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Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing KL Stals, M Wakeling, J Baptista, R Caswell, A Parrish, J Rankin, C Tysoe, ... Prenatal diagnosis 38 (1), 33-43, 2018 | 84 | 2018 |
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress E De Franco, M Lytrivi, H Ibrahim, H Montaser, MN Wakeling, F Fantuzzi, ... The Journal of clinical investigation 130 (12), 6338-6353, 2020 | 69 | 2020 |
NAD (P) HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses NJ Van Bergen, Y Guo, J Rankin, N Paczia, J Becker-Kettern, LS Kremer, ... Brain 142 (1), 50-58, 2019 | 56 | 2019 |
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De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction E De Franco, R Caswell, MB Johnson, MN Wakeling, A Zung, VC Dũng, ... Diabetes 69 (3), 477-483, 2020 | 37 | 2020 |
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Annotating high-impact 5′ untranslated region variants with the UTRannotator X Zhang, M Wakeling, J Ware, N Whiffin Bioinformatics 37 (8), 1171-1173, 2021 | 34 | 2021 |
Trisomy 21 is a cause of permanent neonatal diabetes that is autoimmune but not HLA associated MB Johnson, E De Franco, SAW Greeley, LR Letourneau, KM Gillespie, ... Diabetes 68 (7), 1528-1535, 2019 | 34 | 2019 |
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Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease MN Wakeling, TW Laver, CF Wright, E De Franco, KL Stals, AM Patch, ... Genetics in Medicine 21 (4), 982-986, 2019 | 30 | 2019 |
Biallelic PI4KA variants cause neurological, intestinal and immunological disease CG Salter, Y Cai, B Lo, G Helman, H Taylor, A McCartney, JS Leslie, ... Brain 144 (12), 3597-3610, 2021 | 24 | 2021 |
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism MN Wakeling, NDL Owens, JR Hopkinson, MB Johnson, JAL Houghton, ... Nature genetics 54 (11), 1615-1620, 2022 | 20 | 2022 |
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 H Yaghootkar, F Abbasi, N Ghaemi, A Rabbani, MN Wakeling, P Eshraghi, ... Diabetic Medicine 36 (12), 1694-1702, 2019 | 16 | 2019 |
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy KJ Low, K Stals, R Caswell, M Wakeling, J Clayton-Smith, A Donaldson, ... European Journal of Human Genetics 26 (6), 796-807, 2018 | 15 | 2018 |
Primate-specific ZNF808 is essential for pancreatic development in humans E De Franco, NDL Owens, H Montaser, MN Wakeling, J Saarimäki-Vire, ... Nature Genetics 55 (12), 2075-2081, 2023 | 10 | 2023 |
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome E Wakeling, M McEntagart, M Bruccoleri, C Shaw-Smith, KL Stals, ... Human Genetics and Genomics Advances 2 (1), 2021 | 9 | 2021 |