Exeter-based authors are highlighted in bold.

Männistö JME, Hopkins JJ, Hewat TI, Nasser F, Burrage J, Dastamani A, Mirante A, Murphy N, Rzasa J, Kerkhof J, Relator R, Johnson MB, Laver TW, Weymouth L, Houghton JAL, Wakeling MN, Sadikovic B, Dempster EL, Flanagan SE.
Congenital hyperinsulinism and novel KDM6A duplications – resolving pathogenicity with genome and epigenetic analyses.
J Clin Endocrinol Metab. 2024 Jul 30. Epub ahead of print. (PMID: 39078990)

Kind L, Molnes J, Tjora E, Raasakka A, Myllykoski M, Colclough K, Saint-Martin C, Adelfalk C, Dusatkova P, Pruhova S, Valtonen-André C, Bellanné-Chantelot C, Arnesen T, Kursula P, Njølstad PR.
Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.
JCI Insight. 2024 Jun 10;9(11):e175278. (PMID:38855865)

Johnson MB, Ogishi M, Domingo-Vila C, De Franco E, Wakeling MN, Imane Z, Resnick B, Williams E, Galão RP, Caswell R, Russ-Silsby J, Seeleuthner Y, Rinchai D, Fagniez I, Benson B, Dufort MJ, Speake C, Smithmyer ME, Hudson M, Dobbs R; EXE-T1D consortium; Quandt Z, Hattersley AT, Zhang P, Boisson-Dupuis S, Anderson MS, Casanova JL, Tree TI, Oram RA.
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
J Exp Med. 2024 Jun 3;221(6):e20231704. Epub 2024 Apr 18. (PMID: 38634869)

Shields BM, Carlsson A, Patel K, Knupp J, Kaur A, Johnston D, Colclough K, Larsson HE, Forsander G, Samuelsson U, Hattersley A, Ludvigsson J.
Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis.
Sci Rep. 2024 May 8;14(1):10589. (PMID: 38719926)

Kaci A, Solheim MH, Silgjerd T, Hjaltadottir J, Hornnes LH, Molnes J, Madsen A, Sjøholt G, Bellanné-Chantelot C, Caswell R, Sagen JV, Njølstad PR, Aukrust I, Bjørkhaug L.
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
Hum Mol Genet. 2024 May 4;33(10):894-904. (PMID: 38433330)

Beaumont RN, Hawkes G, Gunning AC, Wright CF.
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.
Genome Med. 2024 Apr 26;16(1):64. (PMID: 38671509)

Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, Kershaw M, Honey EM, Murphy N, Giri D, Nath S, Tangari Saredo A, Banerjee I, Hussain K, Owens NDL, Flanagan SE.
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.
Eur J Hum Genet. 2024 Apr 11. Epub ahead of print. (PMID: 38605124)

Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, Maree M, Gunning A, Zayed DZ, Voutsina N, McGavin L, Sawafta R, Owens M, Baker W, Turnpenny P, Al-Hijawi F, Baple EL, Crosby AH, Rawlins LE.
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Am J Med Genet A. 2024 Mar 4:e63579. Epub ahead of print. (PMID: 38436550)

De Sousa SMC, Wu KHC, Colclough K, Rawlings L, Dubowsky A, Monnik M, Poplawski N, Scott HS, Horowitz M, Torpy DJ.
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing
Acta Diabetol. 2024 Feb;61(2):181-188. (PMID: 37812285)

Amaratunga SA, Hussein Tayeb T, Muhamad Sediq RN, Hama Salih FK, Dusatkova P, Wakeling MN, De Franco E, Pruhova S, Lebl J.
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq
Diabetologia. 2024 Jan;67(1):113-123. Epub 2023 Oct 28. (PMID: 37897565)

Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, Callaway A, Robinson R, Burghel GJ, Hanson H, Field J, McDevitt T, McVeigh TP, Bedenham T, Bowles C, Bradshaw K, Brooks C, Butler S, Del Rey Jimenez JC, Hawkes L, Stinton V, MacMahon S, Owens M, Palmer-Smith S, Smith K, Tellez J, Valganon-Petrizan M, Waskiewicz E, Yau M, Eccles DM, Tischkowitz M, Goel S, McRonald F, Antoniou AC, Morris E, Hardy S, Turnbull C.
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey
J Med Genet. 2023 Dec 22:jmg-2023-109645. Online ahead of print. (PMID: 38154813)

Gunning AC, Wright CF.
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification
Genome Med. 2023 Dec 12;15(1):110. ( PMID: 38087376)

De Franco E, Owens NDL, Montaser H, Wakeling MN, Saarimäki-Vire J, Triantou A, Ibrahim H, Balboa D, Caswell RC, Jennings RE, Kvist JA, Johnson MB, Muralidharan S, Ellard S, Wright CF, Maddirevula S, Alkuraya FS; Pancreatic Agenesis Gene Discovery Consortium; Hanley NA, Flanagan SE, Otonkoski T, Hattersley AT, Imbeault M.
Primate-specific ZNF808 is essential for pancreatic development in humans
Nat Genet. 2023 Dec;55(12):2075-2081. Epub 2023 Nov 16. (PMID: 37973953)

Cannon SJ, Hall T, Hawkes G, Colclough K, Boggan RM, Wright CF, Pickett SJ, Hattersley AT, Weedon MN, Patel KA.
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population
Hum Mol Genet. 2023 Nov 21:ddad194. Online ahead of print. (PMID: 37988592)

Petrie I, Knox Cartwright N, Roberts H, Kyrodimou E, Moudiotis C, Owens M, Cleaver R, Smith J, Vaidya B.
Multiple endocrine neoplasia type 2A syndrome presenting with corneal nerve thickening
QJM. 2023 Nov 15:hcad259. Online ahead of print. (PMID: 37966915)

Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K; Undiagnosed Diseases Network; Eyre D, Krakow D, Schedl T, Pak SC, Lee BH.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling
PLoS Genet. 2023 Nov 7;19(11):e1011005. (PMID: 37934770)

Russ-Silsby J, Patel KA, Laver TW, Hawkes G, Johnson MB, Wakeling MN, Patil PP, Hattersley AT, Flanagan SE, Weedon MN, De Franco E.
The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus
Diabetes. 2023 Nov 1;72(11):1729-1734. (PMID: 37639628)

Hughes AE, Houghton JAL, Bunce B, Chakera AJ, Spyer G, Shepherd MH, Flanagan SE, Hattersley AT.
Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing
Diabetologia. 2023 Nov;66(11):1997-2006. Epub 2023 Aug 31. (PMID: 37653058)

Toffoli M, Chohan H, Mullin S, Jesuthasan A, Yalkic S, Koletsi S, Menozzi E, Rahall S, Limbachiya N, Loefflad N, Higgins A, Bestwick J, Lucas-Del-Pozo S, Fierli F, Farbos A, Mezabrovschi R, Lee-Yin C, Schrag A, Moreno-Martinez D, Hughes D, Noyce A, Colclough K, Jeffries AR, Proukakis C, Schapira AHV.
Phenotypic effect of GBA1 variants in individuals with and without Parkinson’s disease: The RAPSODI study
Neurobiol Dis. 2023 Nov;188:106343. doi: 10.1016/j.nbd.2023.106343. Epub 2023 Nov 3. (PMID: 37926171)

Shaikh MG, Lucas-Herald AK, Dastamani A, Salomon Estebanez M, Senniappan S, Abid N, Ahmad S, Alexander S, Avatapalle B, Awan N, Blair H, Boyle R, Chesover A, Cochrane B, Craigie R, Cunjamalay A, Dearman S, De Coppi P, Erlandson-Parry K, Flanagan SE, Gilbert C, Gilligan N, Hall C, Houghton J, Kapoor R, McDevitt H, Mohamed Z, Morgan K, Nicholson J, Nikiforovski A, O’Shea E, Shah P, Wilson K, Worth C, Worthington S, Banerjee I.
Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus
Front Endocrinol (Lausanne). 2023 Oct 30;14:1231043. (PMID: 38027197)

Tobias DK, Merino J, Ahmad A, Aiken C, Benham JL, Bodhini D, Clark AL, Colclough K, Corcoy R, Cromer SJ, Duan D, Felton JL, Francis EC, Gillard P, Gingras V, Gaillard R, Haider E, Hughes A, Ikle JM, Jacobsen LM, Kahkoska AR, Kettunen JLT, Kreienkamp RJ, Lim LL, Männistö JME, Massey R, Mclennan NM, Miller RG, Morieri ML, Most J, Naylor RN, Ozkan B, Patel KA, Pilla SJ, Prystupa K, Raghavan S, Rooney MR, Schön M, Semnani-Azad Z, Sevilla-Gonzalez M, Svalastoga P, Takele WW, Tam CH, Thuesen ACB, Tosur M, Wallace AS, Wang CC, Wong JJ, Yamamoto JM, Young K, Amouyal C, Andersen MK, Bonham MP, Chen M, Cheng F, Chikowore T, Chivers SC, Clemmensen C, Dabelea D, Dawed AY, Deutsch AJ, Dickens LT, DiMeglio LA, Dudenhöffer-Pfeifer M, Evans-Molina C, Fernández-Balsells MM, Fitipaldi H, Fitzpatrick SL, Gitelman SE, Goodarzi MO, Grieger JA, Guasch-Ferré M, Habibi N, Hansen T, Huang C, Harris-Kawano A, Ismail HM, Hoag B, Johnson RK, Jones AG, Koivula RW, Leong A, Leung GKW, Libman IM, Liu K, Long SA, Lowe WL Jr, Morton RW, Motala AA, Onengut-Gumuscu S, Pankow JS, Pathirana M, Pazmino S, Perez D, Petrie JR, Powe CE, Quinteros A, Jain R, Ray D, Ried-Larsen M, Saeed Z, Santhakumar V, Kanbour S, Sarkar …
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
Nat Med. 2023 Oct;29(10):2438-2457. Epub 2023 Oct 5. (PMID: 37794253)

Murphy R, Colclough K, Pollin TI, Ikle JM, Svalastoga P, Maloney KA, Saint-Martin C, Molnes J; ADA/EASD PMDI; Misra S, Aukrust I, de Franco E, Flanagan SE, Njølstad PR, Billings LK, Owen KR, Gloyn AL.
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion
Commun Med (Lond). 2023 Oct 5;3(1):136. (PMID: 37794142)

Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M.
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Genet Med. 2023 Sep 4:100971. Online ahead of print. (PMID: 37675773)

Dias KR, Carlston CM, Blok LER, De Hayr L, Nawaz U, Evans CA, Bayrak-Toydemir P, Htun S, Zhu Y, Ma A, Lynch SA, Moorwood C, Stals K, Ellard S, Bainbridge MN, Friedman J, Pappas JG, Rabin R, Nowak CB, Douglas J, Wilson TE, Guillen Sacoto MJ, Mullegama SV, Palculict TB, Kirk EP, Pinner JR, Edwards M, Montanari F, Graziano C, Pippucci T, Dingmann B, Glass I, Mefford HC, Shimoji T, Suzuki T, Yamakawa K, Streff H, Schaaf CP, Slavotinek AM, Voineagu I, Carey JC, Buckley MF, Schenck A, Harvey RJ, Roscioli T.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med. 2022 Sep;24(9):1952-1966. Epub 2022 Aug 1. (PMID: 35916866)

Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM.
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition.
Brain. 2023 Sep 1;146(9):3885-3897. (PMID: 37006128)

Turnpenny PD, Sloman M, Dunwoodie S.
Spondylocostal Dysostosis, Autosomal Recessive. 2009 Aug 25 [updated 2023 Aug 17]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors.
GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. (PMID: 20301771.)

Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Eur J Hum Genet. 2023 Jul 27. Epub ahead of print. (PMID: 37500725.)

Chen W, Rehsi P, Thompson K, Yeo M, Stals K, He L, Schimmel P, Chrzanowska-Lightowlers ZMA, Wakeling E, Taylor RW, Kuhle B.
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Mol Genet Metab. 2023 Jul 24;140(3):107657.  Epub ahead of print. (PMID: 37523899.)

Murphy R, Colclough K, Pollin TI, Ikle JM, Svalastoga P, Maloney KA, Saint-Martin C, Molnes J; ADA/EASD Precision Medicine Diabetes Initiative; Misra S, Aukrust I, de Franco A, Flanagan SE, Njølstad PR, Billings LK, Owen KR, Gloyn AL.
A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.
medRxiv [Preprint]. 2023 Apr 19:2023.04.15.23288269.  (PMID: 37131594)

Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedláčková L, Štěrbová K, Vlčková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Neurology. 2023 Feb 7;100(6):e603-e615. Epub 2022 Oct 28. (PMID: 36307226)

Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Allen HL, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, Nicolas G, Goldenberg A, Saugier-Veber P, Lecoquierre F, Dabaj I, Meddaugh H, Marble M, Keppler-Noreuil KM, Drayson L, Barañano KW, Chassevent A, Agre K, Létard P, Bilan F, Le Guyader G, Laquerrière A, Ramsey K, Henderson L, Brady L, Tarnopolsky M, Bainbridge M, Friedman J, Capri Y, Athayde L, Kok F, Gurgel-Giannetti J, Ramos LLP, Blaser S, Dowling JJ, Weksberg R.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain. 2023 Jun 1;146(6):2285-2297. (PMID: 36477332)

Wyatt RC, Olek S, De Franco E, Samans B, Patel K, Houghton J, Walter S, Schulze J, Bacchetta R, Hattersley AT, Flanagan SE, Johnson MB.
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.
J Clin Immunol. 2023 Apr;43(3):662-669. Epub 2023 Jan 5. (PMID: 36600150)

Thomas NJ, Walkey HC, Kaur A, Misra S, Oliver NS, Colclough K, Weedon MN, Johnston DG, Hattersley AT, Patel KA.
The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes.
Diabetologia. 2023 Feb;66(2):310-320. Epub 2022 Nov 10. (PMID: 36355183)

Caswell RC, Baptista J, Cairns LM, Wilson K, Stewart H.
Clinical findings and structural analysis involving a patient with a novel KLHL15 variant.
Eur J Med Genet. 2023 Jun;66(6):104768. Epub 2023 Apr 12. (PMID: 37059329)

Harrington F, Greenslade M, Colclough K, Paul R, Jefferies C, Murphy R.
Monogenic diabetes in New Zealand – An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand.
Front Endocrinol (Lausanne). 2023 Mar 24;14:1116880. (PMID: 37033247)

Hopkins JJ, Childs AJ, Houghton JAL, Hewat TI, Atapattu N, Johnson MB, Patel KA, Laver TW, Flanagan SE.
Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic
J Clin Endocrinol Metab. 2023 Feb 15;108(3):680-687. (PMID: 36239000)

Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Hum Mol Genet. 2023 Jan 27;32(4):580-594. (PMID: 36067010)

Guimier A, de Pontual L, Braddock SR, Torti E, Pérez-Jurado LA, Muñoz-Cabello P, Arumí M, Monaghan KG, Lee H, Wang LK, Pluym ID, Lynch SA, Stals K, Ellard S, Muller C, Houyel L, Cohen L, Lyonnet S, Bajolle F, Amiel J, Gordon CT.
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Hum Mol Genet. 2023 Jan 13;32(3):353-356. (PMID: 35396997)

Şıklar Z, Kontbay T, Colclough K, Patel KA, Berberoğlu M.
Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases
J Clin Res Pediatr Endocrinol. 2023 Feb 27;15(1):90-96. (PMID: 34541035)

Perera LA, Hattersley AT, Harding HP, Wakeling MN, Flanagan SE, Mohsina I, Raza J, Gardham A, Ron D, De Franco E.
Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP.
EMBO Mol Med. 2023 Mar 8;15(3):e16491. Epub 2023 Jan 27. (PMID: 36704923)

S, Gubaeva D, Houghton JAL, Dastamani A, Sotiridou E, Gilbert C, Flanagan SE, Tiulpakov A, Melikyan M, Shah P.
Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1
Endocr Connect. 2023 Mar 7;12(4):e220008. (PMID: 35951311)

Cannon S, Williams M, Gunning AC, Wright CF.
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels
BMC Med Genomics. 2023 Feb 28;16(1):36. (PMID: 36855133)

Izatt L, Owens MM, Pierce H, Wilcox S, Park SM.
A practical guide to genetic testing in endocrinology.
Clin Endocrinol (Oxf). 2022 Oct;97(4):388-399. (PMID: 34528717)

Colclough K, Patel K.
How do I diagnose Maturity Onset Diabetes of the Young in my patients?
Clin Endocrinol (Oxf). 2022 Oct;97(4):436-447. (PMID: 35445424), (PMCID: PMC9308257)

Caswell RC, Gunning AC, Owens MM, Ellard S, Wright CF
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Genome Med. 2022 Jul 22;14(1):77. (PMID: 35869530), (PMCID: 35869530)

Pang L, Colclough KC, Shepherd MH, McLean J, Pearson ER, Ellard S, Hattersley AT, Shields BM.
Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.
Diabetes Care. 2022 Mar 1;45(3):642-649. (PMID: 35061023), (PMCID: PMC7612472)

Patel KA, Ozbek MN, Yildiz M, Guran T, Kocyigit C, Acar S, Şıklar Z, Atar M, Colclough K, Houghton J, Johnson MB, Ellard S, Flanagan SE, Cizmecioglu F, Berberoğlu M, Demir K, Catli G, Bas S, Akcay T, Demirbilek H, Weedon MN, Hattersley AT.
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Diabetologia. 2022 Feb;65(2):336-342. (PMID: 34686905)

Locke JM, Dusatkova P, Colclough K, Hughes AE, Dennis JM, Shields B, Flanagan SE, Shepherd MH, Dempster EL, Hattersley AT, Weedon MN, Pruhova S, Patel KA.
Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.
Diabetologia. 2022 Jan;65(1):246-249. (PMID: 34618178)

Colclough K, Ellard S, Hattersley A, Patel K.
Syndromic Monogenic Diabetes Genes Should be Tested in Patients With a Clinical Suspicion of MODY.
Diabetes. 2021 Nov 17. Epub ahead of print. ( PMID: 34789499)

100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, Robinson PN, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O’Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O’Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Németh AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care – Preliminary Report.
N Engl J Med. 2021 Nov 11;385(20):1868-1880. (PMID: 34758253)

Hewat TI, Yau D, Jerome JCS, Laver TW, Houghton JAL, Shields BM, Flanagan SE, Patel KA.
Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.
Eur J Endocrinol. 2021 Oct 30;185(6):813-818. (PMID: 34633981)

Lin S, Fasham J, Al-Hijawi F, Qutob N, Gunning A, Leslie JS, McGavin L, Ubeyratna N, Baker W, Zeid R, Turnpenny PD, Crosby AH, Baple EL, Khalaf-Nazzal R.
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Eur J Hum Genet. 2021 Oct;29(10):1570-1576. (PMID: 34012134)

Jackson A, Banka S, Stewart H; Genomics England Research Consortium, Robinson , Lovell S, Clayton-Smith J.
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
Am J Med Genet A. 2021 Oct;185(10):3083-3091. ( PMID: 34061450)

Williams ST, Chatzikyriakou P, Carroll PV, McGowan BM, Velusamy A, White G, Obholzer R, Akker S, Tufton N, Casey RT, Maher ER, Park SM, Porteous M, Dyer R, Tan T, Wernig F, Brady AF, Kosicka-Slawinska M, Whitelaw BC, Dorkins H, Lalloo F, Brennan P, Carlow J, Martin R, Mitchell AL, Harrison R, Hawkes L, Newell-Price J, Kelsall A, Igbokwe R, Adlard J, Schirwani S, Davidson R, Morrison PJ, Chung TT, Bowles C, Izatt L.
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Clin Endocrinol (Oxf). 2021 Sep 24. Epub ahead of print. (PMID: 34558728)

McDermott H, Robinson HK, Caswell R, Gowda H, Offiah A, Naik S
Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.
Am J Med Genet A. 2021 Sep 24. Epub ahead of print. (PMID: 34558814)

Sasaki E, Phelan E, O’Regan M, Kassim AH, Miletin J, McMahon C, O’Sullivan MJ, Baptista J, Lynch SA.
HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.
Clin Genet. 2021 Sep 16. Epub ahead of print. PMID: 34532855)

von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faltera F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG, Thorstensen WM.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A. 2021 Sep 13. Epub ahead of print. PMID: 34515416)

Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, Lemke JR, Bernat JA, Bombei HM, Foulds N, Hunt D, Kuechler A, Beygo J, Stöbe P, Bouman A, Palomares-Bralo M, Santos-Simarro F, Garcia-Minaur S, Pacio-Miguez M, Popp B, Vasileiou G, Hebebrand M, Reis A, Schuhmann S, Krumbiegel M, Brown NJ, Sparber P, Melikyan L, Bessonova L, Cherevatova T, Sharkov A, Shcherbakova N, Dabir T, Kini U, Schwaibold EMC, Haack TB, Bertoli M, Hoffjan S, Falb R, Shinawi M, Sticht H, Zweier C.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet. 2021 Sep 9. Epub ahead of print. (PMID: 34505148)

Stolz JR, Foote KM, Veenstra-Knol HE, Pfundt R, Ten Broeke SW, de Leeuw N, Roht L, Pajusalu S, Part R, Rebane I, Õunap K, Stark Z, Kirk EP, Lawson JA, Lunke S, Christodoulou J, Louie RJ, Rogers RC, Davis JM, Innes AM, Wei XC, Keren B, Mignot C, Lebel RR, Sperber SM, Sakonju A, Dosa N, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Ruivenkamp CAL, van Bon BW, Kennedy J, Low KJ, Ellard S, Pang L, Junewick JJ, Mark PR, Carvill GL, Swanson GT.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet. 2021 Sep 2;108(9):1692-1709. (PMID: 34375587)

Hegarty R, Gibson P, Sambrotta M, Strautnieks S, Foskett P, Ellard S, Baptista J, Lillis S, Bansal S, Vara R, Dhawan A, Grammatikopoulos T, Thompson RJ.
Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology.
J Pediatr. 2021 Sep;236:124-130. (PMID: 34023347)

Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Amy Pizzino, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA.
Expanded phenotype of AARS1-related white matter disease.
Genet Med. 2021 Aug 27. (PMID: 34446925)

Danne Guimier, Melanie T. Achleitner, Anne Moreau de Bellaing, Matthew Edwards, Loïc de Pontual, Kirti Mittal, Kyla E. Dunn, Megan E. Grove, Carolyn J. Tysoe, Clémantine Dimartino, Jessie Cameron, Anil Kanthi, Anju Shukla, Florence van den Broek, Diptendu Chatterjee, Charlotte L. Alston, Charlotte V. Knowles, Laura Brett, Jan A. Till, Tessa Homfray, Paul French, Georgia Spentzou, Noha A. Elserafy, Kate S. Lichkus, Bindu P. Sankaran, Hannah L. Kennedy, Peter M. George, Alexa Kidd, Saskia B. Wortmann, Dianna G. Fisk, Tamara T. Koopmann, Muhammad A. Rafiq, Jason D. Merker, Sumith Parikh, Priyanka Ahimaz, Robert G. Weintraub, Alan S. Ma, Christian Turner, Carolyn J. Ellaway, Liza K. Phillips, David R. Thorburn, Wendy K. Chung, Sajel L. Kana, Ona M. Faye-Petersen, Michelle L. Thompson, Alexandre Janin, Karen McLeod, Ruth McGowan, Robert McFarland, Katta M. Girisha, Deborah J. Morris-Rosendahl, Anna C. E. Hurst, Claire L. S. Turner, Robert M. Hamilton, Robert W. Taylor, Fanny Bajolle, Christopher T. Gordon, Jeanne Amiel, Johannes A. Mayr & Kit Doudney.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Genet Med. 2021 Aug 16 (PMID: 34400813)

Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium, Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med. 2021 Aug 3. (PMID: 34345025)

Gunning AC, Fryer V, Fasham J, Crosby AH, Ellard S, Baple EL, Wright CF.
Assessing performance of pathogenicity predictors using clinically relevant variant datasets.
J Med Genet. 2021 Aug;58(8):547-555. (PMID: 32843488)

Fussey JM, Smith JA, Cleaver R, Bowles C, Ellard S, Vaidya B, Owens M.
Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective.
Clin Endocrinol (Oxf). 2021 Aug;95(2):295-302. (PMID: 33340421)

McDermott H, Henderson A, Robinson HK, Heaver R, Halahakoon C, Cox H, Naik S.
Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing.
Neuromuscul Disord. 2021 Aug;31(8):783-787. (PMID: 34303570)

Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A; CAUSES Study, Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM.
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
Am J Hum Genet. 2021 Jul 1;108(7):1342-1349. (PMID: 34143952)

Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK.
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
J Med Genet. 2021 Jul;58(7):453-464. (PMID: 32631816)

Schänzer A, Achleitner MT, Trümbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schöneborn S, Ruiz A, Gabau E, Sánchez JP, Ellard S, Homfray T, Stals KL, Wurst W, Neubauer BA, Acker T, Bohlander SK, Asensio C, Besmond C, Alkuraya FS, AlSayed MD, Hahn A, Weber A.
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Ann Neurol. 2021 Jul;90(1):143-158. (PMID: 33999436)

Williamson SL, Rasanayagam CN, Glover KJ, Baptista J, Naik S, Satodia P, Gowda H.
Rapid exome sequencing: revolutionises the management of acutely unwell neonates.
Eur J Pediatr. 2021 Jun 18:1-5. (PMID: 34143244)

Tremblay-Laganière C, Maroofian R, Nguyen TTM, Karimiani EG, Kirmani S, Akbar F, Ibrahim S, Afroze B, Doosti M, Ashrafzadeh F, Babaei M, Efthymiou S, Christoforou M, Sultan T, Ladda RL, McLaughlin HM, Truty R, Mahida S, Cohen JS, Baranano K, Ismail FY, Patel MS, Lehman A, Edmondson AC, Nagy A, Walker MA, Mercimek-Andrews S, Maki Y, Sachdev R, Macintosh R, Palmer EE, Mancini GMS, Barakat TS, Steinfeld R, Rüsch CT, Stettner GM, Wagner M, Wortmann SB, Kini U, Brady AF, Stals KL, Ismayilova N, Ellard S, Bernardo D, Nugent K, McLean SD, Antonarakis SE, Houlden H, Kinoshita T, Campeau PM, Murakami Y.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med. 2021 Jun 10. (PMID: 34113002)

May HJ, Jeong J, Revah-Politi A, Cohen JS, Chassevent A, Baptista J, Baugh EH, Bier L, Bottani A, Carminho A Rodrigues MT, Conlon C, Fluss J, Guipponi M, Kim CA, Matsumoto N, Person R, Primiano M, Rankin J, Shinawi M, Smith-Hicks C, Telegrafi A, Toy S, Uchiyama Y, Aggarwal V, Goldstein DB, Roche KW, Anyane-Yeboa K.
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Genet Med. 2021 Jun 10. (PMID: 34113010)

MacPherson MJ, Erickson SL, Kopp D, Wen P, Aghanoori MR, Kedia S, Burns KML, Vitobello A, Tran Mau-Them F, Thomas Q, Gold NB, Brucker W, Amlie-Wolf L, Gripp KW, Bodamer O, Faivre L, Muona M, Menzies L, Baptista J, Guegan K, Male A, Wei XC, He G, Long Q, Innes AM, Yang G.
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.
Cell Rep. 2021 Jun 8;35(10):109226. (PMID: 34107259)

López Tinoco C, Sánchez Lechuga B, Bacon S, Colclough K, Ng N, Wong E, Goulden EL, Edwards J, Fleming A, Byrne B, Byrne MM.
Evaluation of pregnancy outcomes in women with GCK-MODY.
Diabet Med. 2021 Jun;38(6):e14488. (PMID: 33277730)

Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK.
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
J Med Genet. 2021 May;58(5):297-304. (PMID: 33208383)

Akerman I, Maestro MA, De Franco E, Grau V, Flanagan S, García-Hurtado J, Mittler G, Ravassard P, Piemonti L, Ellard S, Hattersley AT, Ferrer J.
Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene.
Cell Rep. 2021 Apr 13;35(2):108981. (PMID: 33852861)

Islam S, Tekman M, Flanagan SE, Guay-Woodford L, Hussain K, Ellard S, Kleta R, Bockenhauer D, Stanescu H, Iancu D.
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Mol Genet Genomic Med. 2021 Apr 3;e1674. (PMID: 33811480)
Yap ZY, Park YH, Wortmann SB, Gunning AC, Ezer S, Lee S, Duraine L, Wilichowski E, Wilson K, Mayr JA, Wagner M, Li H, Kini U, Black ED, Monaghan KG, Lupski JR, Ellard S, Westphal DS, Harel T, Yoon WH.
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Genome Med. 2021 Apr 12;13(1):55. (PMID: 33845882)

Sabir AH, Singh A, Elley G, Wassemer E, Foster K, Sloman M, Lim D.
A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant.
Clin Dysmorphol. 2021 Apr 1;30(2):115-119. (PMID: 33491999)

Montaser H, Patel KA, Balboa D, Ibrahim H, Lithovius V, Näätänen A, Chandra V, Demir K, Acar S, Ben-Omran T, Colclough K, Locke JM, Wakeling M, Lindahl M, Hattersley AT, Saarimäki-Vire J, Otonkoski T.
Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress.
Diabetes. 2021 Apr;70(4):1006-1018. (PMID: 33500254)

Sachse G, Haythorne E, Proks P, Stewart M, Cater H, Ellard S, Davies B, Ashcroft FM.
Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in mice.
Wellcome Open Res. 2021 Mar 15;5:15. (PMID: 34368464)

Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet. 2021 Mar 4;108(3):502-516. (PMID: 33596411)

Denkboy Öngen Y, Eren E, Demirbaş Ö, Sobu E, Ellard S, De Franco E, Tarım Ö.
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey.
J Clin Res Pediatr Endocrinol. 2021 Feb 26;13(1):80-87. (PMID: 32820876)

Shangaris P, Ho A, Marnerides A, George S, AlAdnani M, Yau S, Jansson M, Hoyle J, Ahn JW, Ellard S, Irving M, Wellesley D, Pasupathy D, Holder-Espinasse M.
A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.
BMC Med Genomics. 2021 Feb 26;14(1):58. (PMID: 33637067)

Macken WL, Godwin A, Wheway G, Stals K, Nazlamova L, Ellard S, Alfares A, Aloraini T, AlSubaie L, Alfadhel M, Alajaji S, Wai HA, Self J, Douglas AGL, Kao AP, Guille M, Baralle D.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Genome Med. 2021 Feb 25;13(1):34. (PMID: 33632302)

Zhang H, Colclough K, Gloyn AL, Pollin TI.
Monogenic diabetes: a gateway to precision medicine in diabetes.
J Clin Invest. 2021 Feb 1;131(3):e142244. (PMID: 33529164)

Carty DM, Harte R, Drummond RS, Ward R, Magid K, Collier D, Owens M, Korbonits M.
AIP variant causing familial prolactinoma.
Pituitary. 2021 Feb;24(1):48-52. (PMID: 33010004 )

Bowman P, Mathews F, Barbetti F, Shepherd MH, Sanchez J, Piccini B, Beltrand J, Letourneau-Freiberg LR, Polak M, Greeley SAW, Rawlins E, Babiker T, Thomas NJ, De Franco E, Ellard S, Flanagan SE, Hattersley AT; Neonatal Diabetes International Collaborative Group.
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.
Diabetes Care. 2021 Jan;44(1):35-42. (PMID: 33184150)

Bowman P, Mathews F, Barbetti F, Shepherd MH, Sanchez J, Piccini B, Beltrand J, Letourneau-Freiberg LR, Polak M, Greeley SAW, Rawlins E, Babiker T, Thomas NJ, De Franco E, Ellard S, Flanagan SE, Hattersley AT; Neonatal Diabetes International Collaborative Group.
Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.
Diabetes Care. 2021 Jan;44(1):35-42 (PMID: 33184150)

Wakeling E, McEntagart M, Bruccoleri M, Shaw-Smith C, Stals KL, Wakeling M, Barnicoat A, Beesley C; DDD Study, Hanson-Kahn AK, Kukolich M, Stevenson DA, Campeau PM, Ellard S, Elsea SH, Yang XJ, Caswell RC.
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.
HGG Adv. 2021 Jan 14;2(1):100015. (PMID: 34143952)

Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B; Undiagnosed Diseases Network, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. (PMID: 33232675)

De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling MN, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, Cosentino C, Lithovius V, Vihinen H, Jokitalo E, Laver TW, Johnson MB, Sawatani T, Shakeri H, Pachera N, Haliloglu B, Ozbek MN, Unal E, Yıldırım R, Godbole T, Yildiz M, Aydin B, Bilheu A, Suzuki I, Flanagan SE, Vanderhaeghen P, Senée V, Julier C, Marchetti P, Eizirik DL, Ellard S, Saarimäki-Vire J, Otonkoski T, Cnop M, Hattersley AT.
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
J Clin Invest. 2020 Dec 1;130(12):6338-6353 (PMID: 33164986)

Johnson MB, Patel KA, De Franco E, Hagopian W, Killian M, McDonald TJ, Tree TIM, Domingo-Vila C, Hudson M, Hammersley S, Dobbs R; EXE-T1D Consortium, Ellard S, Flanagan SE, Hattersley AT, Oram RA.
Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.
Diabetologia. 2020 Dec;63(12):2605-2615. (PMID: 33029656)

Sethi A, Foulds N, Ehtisham S, Ahmed SH, Houghton J, Colclough K, Didi M, Flanagan SE, Senniappan S.
Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series.
J Clin Res Pediatr Endocrinol. 2020 Nov 25;12(4):420-426. (PMID: 31989990)

Althari S, Najmi LA, Bennett AJ, Aukrust I, Rundle JK, Colclough K, Molnes J, Kaci A, Nawaz S, van der Lugt T, Hassanali N, Mahajan A, Molven A, Ellard S, McCarthy MI, Bjørkhaug L, Njølstad PR, Gloyn AL.
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Am J Hum Genet. 2020 Oct 1;107(4):670-682. (PMID: 32958621)

Misra S, Hassanali N, Bennett AJ, Juszczak A, Caswell R, Colclough K, Valabhji J, Ellard S, Oliver NS, Gloyn AL.
Response to Comment on Misra et al. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes.
Diabetes Care 2020 Oct;43:909-912. (PMID: 32958621)

Ashraf T, Vaina C, Giri D, Burren CP, James M, Offiah AC, Overton T, Baptista J, Ellard S, Smithson SF.
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
Am J Med Genet A. 2020 Oct;182(10):2403-2408. (PMID: 32783357)

Banerjee I, Senniappan S, Laver TW, Caswell R, Zenker M, Mohnike K, Cheetham T, Wakeling MN, Ismail D, Lennerz B, Splitt M, Berberoğlu M, Empting S, Wabitsch M, Pötzsch S, Shah P, Siklar Z, Verge CF, Weedon MN, Ellard S, Hussain K, Flanagan SE.
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome.
Wellcome Open Res. 2020 Aug 4;4:149. (PMID: 32832699)

Reichert SC, Li R, A Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodríguez-Palmero A, Fourcade S, Schlüter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R.
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Clin Genet. 2020 Jul;98(1):91-98. (PMID: 32335897)

Caswell RC, Snowsill T, Houghton JAL, Chakera AJ, Shepherd MH, Laver TW, Knight BA, Wright D, Hattersley AT, Ellard S.
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.
Clin Chem. 2020 Jul 1;66(7):958-965. (PMID: 32533152)

Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group.
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genet Med. 2020 Jun;22(6):1129. (PMID: 32123317)

Yau D, Colclough K, Natarajan A, Parikh R, Canham N, Didi M, Senniappan S, Banerjee I.
Congenital hyperinsulinism due to mutations in HNF1A.
Eur J Med Genet. 2020 Jun;63(6):103928. (PMID: 32325224)

De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE.
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
Hum Mutat. 2020 May;41(5):884-905. (PMID: 32027066)

Aghababaie AS, Ford-Adams M, Buchanan CR, Arya VB, Colclough K, Kapoor RR.
A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome.
J Pediatr Endocrinol Metab. 2020 May 22;33(6):809-812. (PMID: 32441669)

Misra S, Hassanali N, Bennett AJ, Juszczak A, Caswell R, Colclough K, Valabhji J, Ellard S, Oliver NS, Gloyn AL.
Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes.
Diabetes Care. 2020 Apr;43(4):909-912. (PMID: 32001615)

Andoni T, Ellard S, Kapadia J, Wakeling E.
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype.
Clin Dysmorphol. 2020 Apr;29(2):114-117. (PMID: 31688097)

Yau D, Laver TW, Dastamani A, Senniappan S, Houghton JAL, Shaikh G, Cheetham T, Mushtaq T, Kapoor RR, Randell T, Ellard S, Shah P, Banerjee I, Flanagan SE.
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.
PLoS One. 2020 Feb 6;15(2) (PMID: 32027664)

Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Fernandez Pelayo U, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Am J Hum Genet. 2020 Jan 20. (PMID: 32004445)

Ellard S, Colclough K, Patel KA, Hattersley AT.
Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes.
J Clin Invest. 2020 Jan 2;130(1):14-16. (PMID: 31815736)

Carlsson A, Shepherd M, Ellard S, Weedon M, Lernmark Å, Forsander G, Colclough K, Brahimi Q, Valtonen-Andre C, Ivarsson SA, Elding Larsson H, Samuelsson U, Örtqvist E, Groop L, Ludvigsson J, Marcus C, Hattersley AT.
Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study.
Diabetes Care. 2020 Jan;43(1):82-89. (PMID: 31704690)

Oakley-Hannibal E, Ghali N, Pope FM, De Franco E, Ellard S, van Dijk FS, Brady AF.
A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.
Clin Dysmorphol. 2020 Jan;29(1):69-72. (PMID: 31609726)

Fussey JM, Vaidya B, Kim D, Clark J, Ellard S, Smith JA.
The role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma: A systematic review.
Clin Endocrinol (Oxf). 2019 Dec;91(6):697-707. (PMID: 31301229)

Caswell RC, Owens MM, Gunning AC, Ellard S, Wright CF.
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1.
J Endocr Soc. 2019 Sep 27;3(12):2258-2275. (PMID: 31737856)

Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet. 2019 Aug 01;105(2):384-394. (PMID: 31256876)

Yaghootkar H, Abbasi F, Ghaemi N, Rabbani A, Wakeling MN, Eshraghi P, Enayati S, Vakili S, Heidari S, Patel K, Sayarifard F, Borhan-Dayani S, McDonald TJ, Ellard S, Hattersley AT, Amoli MM, Vakili R, Colclough K.
Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population.
Diabet Med. 2019 Jul 5. (PMID: 31276222)

Adalat S, Hayes WN, Bryant WA, Booth J, Woolf AS, Kleta R, Subtil S, Clissold R, Colclough K, Ellard S, Bockenhauer D.
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.
Kidney Int Rep. 2019 May 29;4(9):1304-1311. (PMID: 31517149)

De Franco E, Watson RA, Weninger WJ, Wong CC, Flanagan SE, Caswell R, Green A, Tudor C, Lelliott CJ, Geyer SH, Maurer-Gesek B, Reissig LF, Lango Allen H, Caliebe A, Siebert R, Holterhus PM, Deeb A, Prin F, Hilbrands R, Heimberg H, Ellard S, Hattersley AT, Barroso I.
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
Am J Hum Genet. 2019 Apr 10. 104(5):985-989. (PMID: 31006513)

Johnson MB, De Franco E, Atma W, Greeley S, Letourneau LR, Gillespie K; International DS-PNDM consortium, Wakeling MN, Ellard S, Flanagan SE, Patel KA, Hattersley AT.
Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated.
Diabetes. 2019 Jul;68(7):1528-1535. (PMID: 30962220)

Annamalai AK, Ellard S, Shanmugam M, Juganya TPJ, De Franco E.
Juvenile Diabetes & Visual Impairment: Wolfram Syndrome.
QJM. 2019 Mar 19. (PMID: 30888424)

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S, DDD Study.
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
Genet Med. 2019 Mar;21(3):766. (PMID: 30279471)

Kiff S, Babb C, Guemes M, Dastamani A, Gilbert C, Flanagan SE, Ellard S, Barton J, Dattani M, Shah P.
Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation.
Endocrinol Diabetes Metab Case Rep. 2019 Feb 11;2019. (PMID: 30753133)

Işık E, Demirbilek H, Houghton JA, Ellard S, Flanagan SE, Hussain K.
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation.
J Clin Res Pediatr Endocrinol. 2019 Feb 20;11(1):82-87. Epub 2018 Mar 29. (PMID: 29739729)

Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, Crosby AH, Baple EL.
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.
Eur J Hum Genet. 2019 Jan 8. (4):657-662. (PMID: 30622327)

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, et al.
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.
Genet Med. 2019 Jan;21(1):233-242. (PMID: 29907798)

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Brain. 2019 Jan 1;142(1):50-58. (PMID: 30576410)

Shepherd MH, Shields BM, Hudson M, Pearson ER, Hyde C, Ellard S, Hattersley AT, Patel KA; UNITED study.
UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.
Diabetologia. 2018 Dec;61(12):2520-2527 (PMID: 30229274)

Hattersley AT, Greeley SAW, Polak M, Rubio-Cabezas O, Njølstad PR, Mlynarski W, Castano L, Carlsson A, Raile K, Chi DV, Ellard S, Craig ME.
ISPAD 2018 Consensus Guidelines: The diagnosis and management of monogenic diabetes in children and adolescents.
Pediatr Diabetes. 2018 Oct;19 Suppl 27:47-63. (PMID: 30225972)

Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, Kansu A, Berberoğlu M.
Monogenic Diabetes Not Caused By Mutations in MODY Genes: A Very Heterogenous Group of Diabetes.
Exp Clin Endocrinol Diabetes. 2018 Nov;126(10):612-618. (PMID: 29183106)

Laver TW, Wakeling MN, Hua JHY, Houghton JAL, Hussain K, Ellard S, Flanagan SE.
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
Clin Endocrinol (Oxf). 2018 Nov;89(5):621-627. (PMID: 29183106)

Craigie RJ, Salomon-Estebanez M, Yau D, Han B, Mal W, Newbould M, Cheesman E, Bitetti S, Mohamed Z, Sajjan R, Padidela R, Skae M, Flanagan S, Ellard S, Cosgrove KE, Banerjee I, Dunne MJ.
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.
Front Endocrinol (Lausanne). 2018 Oct 17;9:619. (PMID: 29183106)

Ruark E, Holt E, Renwick A, Münz M, Wakeling M, Ellard S, Mahamdallie S, Yost S, Rahman N.
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.Version 2.
Wellcome Open Res. 2018 Oct 31 [revised 2018 Jan 1];3:108. (PMID: 30483600)

Patel KA, Knight B, Aziz A, Babiker T, Tamar A, Findlay J, Cox S, Dimitropoulos I, Tysoe C, Panicker V, Vaidya B.
Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.
Clin Endocrinol (Oxf). 2018 Oct 29 (PMID: 30372544)

Burren CP, Caswell R, Castle B, Welch CR, Hilliard TN, Smithson SF, Ellard S.
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.
Am J Med Genet A. 2018 Sep;176(9):1950-1955. (PMID: 30144375)

Locke JM, Saint-Martin C, Laver TW, Patel KA, Wood AR, Sharp SA, Ellard S, Bellanné-Chantelot C, Hattersley AT, Harries LW, Weedon MN.
The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.
Diabetes. 2018 Sep;67(9):1903-1907. (PMID: 29895593)

Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, Weedon MN.
PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.
J Clin Endocrinol Metab. 2018 Sep 1;103(9):3225-3230.(PMID: 30020498)

Mangla P, Hussain K, Ellard S, Flanagan SE, Bhatia V.
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis.
J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):943-945. (PMID: 29958183)

Clissold RL, Fulford J, Hudson M, Shields BM, McDonald TJ, Ellard S, Hattersley AT, Bingham C.
Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic.
Clin Kidney J. 2018 Aug;11(4):453-458. (PMID: 30094008)

Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR.
Neonatal Diabetes International Collaborative Group.
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. (PMID: 29880308)

Berek JS, Matulonis UA, Peen U, Ghatage P, Mahner S, Redondo A, Lesoin A, Colombo N, Vergote I, Rosengarten O, Ledermann J, Pineda M, Ellard S, Sehouli J, Gonzalez-Martin A, Berton-Rigaud D, Madry R, Reinthaller A, Hazard S, Guo W, Mirza MR.
Safety and dose modification for patients receiving niraparib.
Ann Oncol. 2018 Aug 1;29(8):1784-1792. (PMID: 29767688)

Demirbilek H, Hatipoglu N, Gul U, Tatli ZU, Ellard S, Flanagan SE, De Franco E, Kurtoglu S.
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.
Pediatr Diabetes. 2018 Aug;19(5):898-904. (PMID: 29521454)

Haliloğlu B, Tüzün H, Flanagan SE, Çelik M, Kaya A, Ellard S, Özbek MN.
Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia.
J Clin Res Pediatr Endocrinol. 2018 Jul 31;10(3):279-283. (PMID: 29217498)

Francis PA, Pagani O, Fleming GF, Walley BA, Colleoni M, Láng I, Gómez HL, Tondini C, Ciruelos E, Burstein HJ, Bonnefoi HR, Bellet M, Martino S, Geyer CE Jr, Goetz MP, Stearns V, Pinotti G, Puglisi F, Spazzapan S, Climent MA, Pavesi L, Ruhstaller T, et al.
Tailoring Adjuvant Endocrine Therapy for Premenopausal Breast Cancer.
N Engl J Med. 2018 Jul 12;379(2):122-137. (PMID: 29863451)

Davis WA, Peters KE, Makepeace A, Griffiths S, Bundell C, Grant SFA, Ellard S, Hattersley AT, Paul Chubb SA, Bruce DG, Davis TME.
Prevalence of diabetes in Australia: insights from the Fremantle Diabetes Study Phase II.
Intern Med J. 2018 Jul;48(7):803-809. (PMID: 29512259)

Low KJ, Baptista J, Babiker M, Caswell R, King C, Ellard S, Scurr I.
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.
Eur J Med Genet. 2019 Feb;62(2):97-102. (PMID: 29902590)

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O’Grady GL, et al.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol. 2018 Jun;83(6):1105-1124. (PMID: 29691892)

Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J, Donaldson A, Foulds N, Norman A, Splitt M, Urankar K, Vijayakumar K, Majumdar A, Study D, Ellard S, Smithson SF.
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
Eur J Hum Genet. 2018 Jun;26(6):796-807. (PMID: 29511323)

Gole E, Oikonomou S, Ellard S, De Franco E, Karavanaki K.
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes.
J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):175-178. (PMID: 28943514)

Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S.
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.
J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):168-174. (PMID: 28943513)

Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, Setoodeh A, Haghighi A, Haghighi A, Shaalan Y; International Neonatal Diabetes Consortium, Hattersley AT, Ellard S, De Franco E.
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Diabetologia. 2018 May;61(5):1027-1036. (PMID: 29450569)

Caimari F, Hernández-Ramírez LC, Dang MN, Gabrovska P, Iacovazzo D, Stals K, Ellard S, Korbonits M; International FIPA consortium.
Risk category system to identify pituitary adenoma patients with AIP mutations.
J Med Genet. 2018 Apr;55(4):254-260. (PMID: 29440248)

Johnson MB, Patel KA, De Franco E, Houghton JAL, McDonald TJ, Ellard S, Flanagan SE, Hattersley AT.
A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.
Diabetologia. 2018 Apr;61(4):862-869. (PMID: 29417186)

Loveday C, Josephs K, Chubb D, Gunning A, Izatt L, Tischkovitz M, Ellard S, Turnbull C.
p.Val804Met, the most frequent pathogenic mutation in RET, confers a very low lifetime risk of medullary thyroid cancer.
J Clin Endocrinol Metab. 2018 Nov 1;103(11):4275-4282. (PMID: 29590403)

Al Senani A, Hamza N, Al Azkawi H, Al Kharusi M, Al Sukaiti N, Al Badi M, Al Yahyai M, Johnson M, De Franco E, Flanagan S, Hattersley A, Ellard S, Mula-Abed WA.
Genetic mutations associated with neonatal diabetes mellitus in Omani patients. 
J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):195-204. (PMID: 29329106)

D Iacovazzo, SE Flanagan, E Walker, R Quezado, F Antonio de Sousa Barros, R Caswell, MB Johnson, M Wakeling, M Brändle, M Guo, MN Dang, P Gabrovska, B Niederle, E Christ, S Jenni, B Sipos, M Nieser, A Frilling, K Dhatariya, P Chanson, WW de Herder, B Konukiewitz, G Klöppel, R Stein, M Korbonits, and S Ellard.
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus
Proc Natl Acad Sci USA. 2018 Jan 30;115(5):1027-1032. (PMID: 29339498)

Yildiz M, Akcay T, Aydin B, Akgun A, Dogan BB, De Franco E, Ellard S, Onal H. Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation.
J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):345-348. (PMID: 29305569)

JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, A Hoischen, BWM van Bon, A Gezdirici, EY Gulec, F Ramond, R Touraine, J Thevenon, M Shinawi, E Beaver, J Heeley, J Hoover-Fong, CD Durmaz, HG Karabulut, E Marzioglu-Ozdemir, A Cayir, MB Duz, M Seven, S Price, BM Ferreira, AM Vianna-Morgante, S Ellard, A Parrish, K Stals, J Flores-Daboub, SN Jhangiani, RA Gibbs; Baylor-Hopkins Center for Mendelian Genomics, HG Brunner, VR Sutton, JR Lupski, CMB Carvalho. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Am J Hum Genet. 2017 Jan 4;102(1):27-43. (PMID: 29276006)

KL Stals, M Wakeling, J Baptista, R Caswell, A Parrish, J Rankin, C Tysoe, G Jones, AC Gunning, H Lango Allen, L Bradley, AF Brady, H Carley, J Carmichael, B Castle, D Cilliers, H Cox, C Deshpande, A Dixit, J Eason, F Elmslie, AE Fry, A Fryer, M Holder, T Homfray, E Kivuva, V McKay, R Newbury-Ecob, M Parker, R Savarirayan, C Searle, N Shannon, D Shears, S Smithson, E Thomas, PD Turnpenny, V Varghese, P Vasudevan, E Wakeling, EL Baple, S Ellard. Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn. 2018 Jan;38(1):33-43. (PMID: 29096039)

R Salvatori, S Radian, Y Diekmann, D Iacovazzo, A David, P Gabrovska, G Grassi, AM Bussell, K Stals, A Weber, R Quinton, EC Crowne, V Corazzini, L Metherell, T Kearney, D Du Plessis, AK Sinha, A Baborie, AL Lecoq, P Chanson, O Ansorge, S Ellard, PJ Trainer, D Balding, MG Thomas, M Korbonits. In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.
Eur J Endocrinol. 2017 Sep;177(3):257-266. Epub 2017 Jun 20. (PMID: 28634279)

S Radian, Y Diekmann, P Gabrovska, B Holland, L Bradley, H Wallace, K Stals, AM Bussell, K McGurren, M Cuesta, AW Ryan, M Herincs, LC Hernández-Ramírez, A Holland, J Samuels, ED Aflorei, S Barry, J Dénes, I Pernicova, CE Stiles, G Trivellin, R McCloskey, M Ajzensztejn, N Abid, SA Akker, M Mercado, M Cohen, RV Thakker, S Baldeweg, A Barkan, M Musat, M Levy, SM Orme, M Unterländer, J Burger, AV Kumar, S Ellard, J McPartlin, R McManus, GJ Linden, B Atkinson, DJ Balding, A Agha, CJ Thompson, SJ Hunter, MG Thomas, PJ Morrison, M Korbonits. Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland. Hum Mutat. 2017 Jan;38(1):78-85. Epub 2016 Oct 4. (PMID: 27650164)

C Ramírez-Rentería, LC Hernández-Ramírez, L Portocarrero-Ortiz, G Vargas, V Melgar, E Espinosa, AL Espinosa-de-Los-Monteros, E Sosa, B González, S Zúñiga, M Unterländer, J Burger, K Stals, AM Bussell, S Ellard, M Dang, D Iacovazzo, S Kapur, P Gabrovska, S Radian, F Roncaroli, M Korbonits, M Mercado. AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience. Endocrine. 2016 Aug;53(2):402-11. Epub 2016 Mar 31. (PMID: 27033541)

TW Laver, RC Caswell, KA Moore, J Poschmann, MB Johnson, MM Owens, S Ellard, KH Paszkiewicz, MN Weedon. Pitfalls of haplotype phasing from amplicon-based long-read sequencing. Sci Rep. 2016 Feb 17;6:21746. (PMID: 26883533)

A Güven, AN Cebeci, S Ellard, SE Flanagan. Clinical, genetic characteristics, management and long-term follow up of Turkish patients with congenital hyperinsulinism. J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):197-204. Epub 2015 Dec 18. (PMID: 26758964)

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN. 

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Nat Commun. 2017 Oct 12;8(1):888. (PMID: 29026101)

Globa E, Zelinska N, Elblova L, Dusatkova P, Cinek O, Lebl J, Colclough K, Ellard S, Pruhova S. MODY in Ukraine: genes, clinical phenotypes and treatment. J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1095-1103. (PMID: 28862987)

McDonald TJ, Besser RE, Perry M, Babiker T, Knight BA, Shepherd MH, Ellard S, Flanagan SE, Hattersley AT. Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement. Diabetologia. 2017 Nov;60(11):2168-2173.  Epub 2017 Aug 5. (PMID: 28779213)

Shields BM, Shepherd M, Hudson M, McDonald TJ, Colclough K, Peters J, Knight B, Hyde C, Ellard S, Pearson ER, Hattersley AT; UNITED study team. Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients. Diabetes Care. 2017 Aug;40(8):1017-1025. (PMID: 28701371)

Laver TW, Weedon MN, Caswell R, Hussain K, Ellard S, Flanagan SE. Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia. Hum Mutat. 2017 Oct;38(10):1442-1444.  Epub 2017 Aug 1. (PMID: 28681398)

Jain V, Satapathy A, Yadav J, Sharma R, Radha V, Mohan V, De Franco E, Ellard S. Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India. Indian Pediatr. 2017 Jun 15;54(6):467-471. (PMID: 28667717)

Gabbay M, Ellard S, De Franco E, Moisés RS. Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):274-277. Epub 2017 Jun 30. (PMID: 28663161)

Flanagan SE, Dũng VC, Houghton JAL, De Franco E, Ngoc CTB, Damhuis A, Ashcroft FM, Harries LW, Ellard S. An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression. J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):260-264. Epub 2017 Jun 30. (PMID: 28663158)

Han B, Mohamed Z, Estebanez MS, Craigie RJ, Newbould M, Cheesman E, Padidela R, Skae M, Johnson M, Flanagan S, Ellard S, Cosgrove KE, Banerjee I, Dunne MJ. Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267. (PMID: 28605545)

Reinauer C, Rosenbauer J, Bächle C, Herder C, Roden M, Ellard S, De Franco E, Karges B, Holl RW, Enczmann J, Meissner T. The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype. Genes (Basel). 2017 May 19;8(5). pii: E146. (PMID: 28534863)

Elouej S, Beleza-Meireles A, Caswell R, Colclough K, Ellard S, Desvignes JP, Béroud C, Lévy N, Mohammed S, De Sandre-Giovannoli A. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). Metabolism. 2017 Jun;71:213-225. Epub 2017 Mar 28. (PMID: 28521875)

Katanic D, Vorgučin I, Hattersley A, Ellard S, Houghton JAL, Obreht D, Knežević Pogančev M, Vlaški J, Pavkov D. A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up. Diabetes Res Clin Pract. 2017 Jul;129:59-61. Epub 2017 May 3. (PMID: 28511139)

Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, Ullah I, Alyaarubi S, Gardner D, Ellard S, Hattersley AT, Flanagan SE. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes. 2017 Aug;66(8):2316-2322. Epub 2017 May 4. (PMID: 28473463)

De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT. Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes. 2017 Jul;66(7):2044-2053. Epub 2017 May 3. (PMID: 28468959)

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D. Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. Epub 2017 Apr 3. (PMID: 28373276)

Galcheva S, Iotova V, Ellard S, Flanagan SE, Halvadzhiyan I, Petrova C, Hussain K. Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation. J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):471-474. (PMID: 28328534)

Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S. A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pediatr Diabetes. 2017 Jun;18(4):320-323. Epub 2017 Mar 20. (PMID: 28318089)

Yau D, De Franco E, Flanagan SE, Ellard S, Blumenkrantz M, Mitchell JJ. Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. Diagn Pathol. 2017 Jan 3;12(1):1. (PMID: 28049534)

Salomon-Estebanez M, Flanagan SE, Ellard S, Rigby L, Bowden L, Mohamed Z, Nicholson J, Skae M, Hall C, Craigie R, Padidela R, Murphy N, Randell T, Cosgrove KE, Dunne MJ, Banerjee I. Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. Orphanet J Rare Dis. 2016 Dec 1;11(1):163. (PMID: 27908292)

Satapathy AK, Jain V, Ellard S, Flanagan SE. Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings. Indian Pediatr. 2016 Oct 8;53(10):912-913. (PMID: 27771675)

Besser RE, Flanagan SE, Mackay DG, Temple IK, Shepherd MH, Shields BM, Ellard S, Hattersley AT. Prematurity and Genetic Testing for Neonatal Diabetes. Pediatrics. 2016 Sep;138(3). Epub 2016 Aug 18. (PMID: 27540106)

Laver TW, Colclough K, Shepherd M, Patel K, Houghton JA, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, Ellard S, Hattersley AT, Weedon MN. The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. Diabetes. 2016 Oct;65(10):3212-7. Epub 2016 Aug 2. (PMID: 27486234)

Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N. Erratum to: Fanconi-Bickel Syndrome – Mutation in SLC2A2 Gene. Indian J Pediatr. 2016 Nov;83(11):1362. (PMID: 27477478)

De Franco E, Caswell R, Houghton JA, Iotova V, Hattersley AT, Ellard S. Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes. Diabet Med. 2017 Apr;34(4):582-585. Epub 2016 Jul 31. (PMID: 27477181)

Misra S, Shields B, Colclough K, Johnston DG, Oliver NS, Ellard S, Hattersley AT. South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people. Diabetologia. 2016 Oct;59(10):2262-5. Epub 2016 Jul 19. (PMID: 27435864)

Thomas ER, Brackenridge A, Kidd J, Kariyawasam D, Carroll P, Colclough K, Ellard S. Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center. J Diabetes Investig. 2016 May;7(3):332-7. Epub 2015 Oct 26. (PMID: 27330718)

Taberner P, Flanagan SE, Mackay DJ, Ellard S, Taverna MJ, Ferraro M. Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea. Diabetes Res Clin Pract. 2016 Jul;117:104-10. Epub 2016 Apr 26. (PMID: 27329029)

Houghton JA, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, MacDonald RJ, Ellard S. Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes. 2016 Sep;65(9):2810-5. Epub 2016 Jun 9. (PMID: 27284104)

Shepherd M, Shields B, Hammersley S, Hudson M, McDonald TJ, Colclough K, Oram RA, Knight B, Hyde C, Cox J, Mallam K, Moudiotis C, Smith R, Fraser B, Robertson S, Greene S, Ellard S, Pearson ER, Hattersley AT; UNITED Team. Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes. Diabetes Care. 2016 Nov;39(11):1879-1888. Epub 2016 Jun 6. (PMID: 27271189)

Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M.
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.
Acta Neuropathol Commun. 2016 Jun 1;4(1):56. (PMID: 27245663)

Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, Hattersley AT, Bingham C.
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.Kidney Int. 2016 Jul;90(1):203-11. Epub 2016 May 24. (PMID: 27234567)

Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT.
Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes.
Diabetes. 2016 Jul;65(7):2094-2099. Epub 2016 Apr 5.(PMID: 27207547)

Ünal S, Gönülal D, Uçaktürk A, Siyah Bilgin B, Flanagan SE, Gürbüz F, Tayfun M, Elmaoğulları S, Araslı A, Demirel F, Ellard S, Hussain K.
A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.
J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):478-481. Epub 2016 May 16. (PMID: 27181099)

Kocaay P, Şiklar Z, Ellard S, Yagmurlu A, Çamtosun E, Erden E, Berberoglu M, Flanagan SE.
Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy.
Horm Res Paediatr. 2016;85(6):421-5. Epub 2016 May 14. (PMID: 27173951)

Vedovato N, Cliff E, Proks P, Poovazhagi V, Flanagan SE, Ellard S, Hattersley AT, Ashcroft FM.
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.
Diabetologia. 2016 Jul;59(7):1430-1436. Epub 2016 Apr 27. (PMID: 27118464)

Fendler W, Madzio J, Kozinski K, Patel K, Janikiewicz J, Szopa M, Tracz A, Borowiec M, Jarosz-Chobot P, Mysliwiec M, Szadkowska A, Hattersley AT, Ellard S, Malecki MT, Dobrzyn A, Mlynarski W.
Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. Diabetologia. 2016 Jul;59(7):1463-1473.Epub 2016 Apr 8. (PMID: 27059371)

Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, Ashcroft FM, Hattersley AT.
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Diabetologia. 2016 Jun;59(6):1162-6. Epub 2016 Mar 31. (PMID: 27033559)

Rodd C, Millette M, Iacovazzo D, Stiles CE, Barry S, Evanson J, Albrecht S, Caswell R, Bunce B, Jose S, Trouillas J, Roncaroli F, Sampson J, Ellard S, Korbonits M.
Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management.
J Clin Endocrinol Metab. 2016 May;101(5):1927-30. Epub 2016 Mar 16. (PMID: 26982009)

M Owens, E Kivuva, A Quinn, P Brennan, R Caswell, HL Allen, B Vaidya, S Ellard.
SOS1 frameshift mutations cause Pure Mucosal Neuroma Syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.
Clin Endocrinol (Oxf). 2016 May;84(5):715-9. Epub 2016 Feb 4. (PMID: 26708403)

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