Wakeling M - Search Results

1

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.

Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, Crosby AH, Baple EL. Rawlins LE, et al. Among authors: wakeling m. Eur J Hum Genet. 2019 Apr;27(4):657-662. doi: 10.1038/s41431-018-0306-0. Epub 2019 Jan 8. Eur J Hum Genet. 2019. PMID: 30622327 Free PMC article.

2

Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP.

Perera LA, Hattersley AT, Harding HP, Wakeling MN, Flanagan SE, Mohsina I, Raza J, Gardham A, Ron D, De Franco E. Perera LA, et al. EMBO Mol Med. 2023 Mar 8;15(3):e16491. doi: 10.15252/emmm.202216491. Epub 2023 Jan 27. EMBO Mol Med. 2023. PMID: 36704923 Free PMC article.

3

Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.

Amaratunga SA, Hussein Tayeb T, Muhamad Sediq RN, Hama Salih FK, Dusatkova P, Wakeling MN, De Franco E, Pruhova S, Lebl J. Amaratunga SA, et al. Among authors: wakeling mn. Diabetologia. 2024 Jan;67(1):113-123. doi: 10.1007/s00125-023-06030-2. Epub 2023 Oct 28. Diabetologia. 2024. PMID: 37897565 Free PMC article.

4

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

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. Stals KL, et al. Among authors: wakeling e, wakeling m. Prenat Diagn. 2018 Jan;38(1):33-43. doi: 10.1002/pd.5175. Epub 2017 Dec 3. Prenat Diagn. 2018. PMID: 29096039 Free PMC article.

5

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

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. Low KJ, et al. Among authors: wakeling m. Eur J Hum Genet. 2018 Jun;26(6):796-807. doi: 10.1038/s41431-018-0110-x. Epub 2018 Mar 6. Eur J Hum Genet. 2018. PMID: 29511323 Free PMC article.

6

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.

Laver TW, Wakeling MN, Hua JHY, Houghton JAL, Hussain K, Ellard S, Flanagan SE. Laver TW, et al. Clin Endocrinol (Oxf). 2018 Nov;89(5):621-627. doi: 10.1111/cen.13841. Epub 2018 Sep 20. Clin Endocrinol (Oxf). 2018. PMID: 30238501 Free PMC article.

7

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S; DDD Study. Wakeling MN, et al. Genet Med. 2019 Apr;21(4):982-986. doi: 10.1038/s41436-018-0281-4. Epub 2018 Oct 3. Genet Med. 2019. PMID: 30279471 Free PMC article.

8

Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S; DDD Study. Wakeling MN, et al. Genet Med. 2019 Mar;21(3):766. doi: 10.1038/s41436-018-0357-1. Genet Med. 2019. PMID: 30446706 Free PMC article.

9

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series.

Ruark E, Holt E, Renwick A, Münz M, Wakeling M, Ellard S, Mahamdallie S, Yost S, Rahman N. Ruark E, et al. Among authors: wakeling m. Wellcome Open Res. 2018 Oct 31;3:108. doi: 10.12688/wellcomeopenres.14754.2. eCollection 2018. Wellcome Open Res. 2018. PMID: 30483600 Free PMC article.

10

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

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. Van Bergen NJ, et al. Among authors: wakeling m. Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310. Brain. 2019. PMID: 30576410

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