EXETER EXOME PUBLICATIONS

Exeter authors are highlighted in boldAll other Exeter publications are listed here.

Compound heterozygous PKD1L1 variants in a family with two fetuses affected by heterotaxy and complex CHD.
Eur J Med Genet. 2020 Feb;63(2):103657. (PMID: 31026592)

Le Fevre A, Baptista J, Ellard S, Overton T, Oliver A, Gradhand E, Scurr I.

Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors.
J Clin Endocrinol Metab. 2020 Jan 30. (PMID: 31996917)
Marques P, Caimari F, Hernández-Ramírez LC, Collier D, Iacovazzo D, Ronaldson A, Magid K, Lim CT, Stals K, Ellard S, Grossman AB, Korbonits M.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Genet Med. 2020 Jan 17. (PMID: 31949313)
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium, Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S.

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early Onset Diabetes and Transient Hepatic Dysfunction.
Diabetes. 2019 Dec 27. (PMID: 31882561)
De Franco E, Caswell R, Johnson MB, Wakeling MN, Zung A, Dũng VC, Bích Ngọc CT, Goonetilleke R, Jury MV, El-Khateeb M, Ellard S, Flanagan SE, Ron D, Hattersley AT.

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia
Hum Mol Genet. 2019 Nov 1;28(21):3543-3551 (PMID: 31423530)
Rautengarten C, Quarrell OW, Stals K, Caswell RC, De Franco E, Baple E, Burgess N, Jokhi R, Heazlewood JL, Offiah AC, Ebert B, Ellard S.

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Am J Hum Genet. 2019 Dec 5;105(6):1286-1293. Epub 2019 Nov 7. (PMID: 31708116)

Mann N, Kause F, Henze EK, Gharpure A, Shril S, Connaughton DM, Nakayama M, Klämbt V, Majmundar AJ, Wu CW, Kolvenbach CM, Dai R, Chen J, van der Ven AT, Ityel H, Tooley MJ, Kari JA, Bownass L, El Desoky S, De Franco E, Shalaby M, Tasic V, Bauer SB, Lee RS, Beckel JM, Yu W, Mane SM, Lifton RP, Reutter H, Ellard S, Hibbs RE, Kawate T, Hildebrandt F.

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Hum Mutat. 2019 Oct 29. [Epub ahead of print] (PMID: 31660661)

Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O’Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST.

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)

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.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Brain. 2019 Jan 1;142(1):50-58. (PMID: 30576410)

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.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights. 
,Ann Neurol. 2018 Jun;83(6):1105-1124. (PMID: 29691892)
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, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

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)
Burren CP, Caswell R, Castle B, Welch CR, Hilliard TN, Smithson SF, Ellard S.

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)
Low KJ, Baptista J, Babiker M, Caswell R, King C, Ellard S, Scurr I.

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)
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.

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Am J Hum Genet. 2018 Jan 4;102(1):27-43. (PMID: 29276006)
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.

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

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.
Diabetes. 2017 Aug;66(8):2316-2322. (PMID: 28473463)
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.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. (PMID: 28373276)
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.

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. (PMID: 28468959)
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.

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

Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. 
Pediatr Clin North Am. 2015 Aug;62(4):1037-53.  (PMID: 26210631)
De Franco E, Ellard S.

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
Eur J Hum Genet. 2015 Mar;23(3):401-4.  (PMID: 24961629Ellard S, Kivuva E, Turnpenny P, Stals K, Johnson M, Xie W, Caswell R, Lango Allen H.

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Nat Genet. 2014 Aug;46(8):812-814.  (
PMID: 25038750)
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppänen M, Lernmark Å, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT.

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.
J Med Genet. 2014 Apr;51(4):264-7. (
PMID: 24459211)
Lango Allen H, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, Turner CL, Weedon MN, Ellard S.

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
Nat Genet. 2013 Aug;45(8):947-50. (PMID: 23770608)
Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O’Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT.

GATA6 haploinsufficiency causes pancreatic agenesis in humans. 
Nat Genet. 2011 Dec 11;44(1):20-22. (
PMID: 22158542)
Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R; International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, Ellard S.

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
Am J Hum Genet. 2011 Aug 12;89(2):308-12. (
PMID: 21820100)
Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S.