| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 409 | 2017 |
| Whole-genome sequencing of patients with rare diseases in a national health system E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ... Nature 583 (7814), 96-102, 2020 | 393 | 2020 |
| Rare variant contribution to human disease in 281,104 UK Biobank exomes Q Wang, RS Dhindsa, K Carss, AR Harper, A Nag, I Tachmazidou, ... Nature 597 (7877), 527-532, 2021 | 245 | 2021 |
| Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan KJ Carss, E Stevens, AR Foley, S Cirak, M Riemersma, S Torelli, ... The American Journal of Human Genetics 93 (1), 29-41, 2013 | 239 | 2013 |
| Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ... Nature genetics 49 (2), 223-237, 2017 | 214 | 2017 |
| Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans P Tuijnenburg, HL Allen, SO Burns, D Greene, MH Jansen, E Staples, ... Journal of allergy and clinical immunology 142 (4), 1285-1296, 2018 | 209 | 2018 |
| Targeted next‐generation sequencing analysis of 1,000 individuals with intellectual disability D Grozeva, K Carss, O Spasic‐Boskovic, MI Tejada, J Gecz, M Shaw, ... Human mutation 36 (12), 1197-1204, 2015 | 194 | 2015 |
| Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound KJ Carss, SC Hillman, V Parthiban, DJ McMullan, ER Maher, MD Kilby, ... Human molecular genetics 23 (12), 3269-3277, 2014 | 191 | 2014 |
| Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan E Stevens, KJ Carss, S Cirak, AR Foley, S Torelli, T Willer, DE Tambunan, ... The American Journal of Human Genetics 92 (3), 354-365, 2013 | 191 | 2013 |
| Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides R Sangermano, A Garanto, M Khan, EH Runhart, M Bauwens, NM Bax, ... Genetics in Medicine 21 (8), 1751-1760, 2019 | 170 | 2019 |
| Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short-and long-read genome sequencing A Sanchis-Juan, J Stephens, CE French, N Gleadall, K Mégy, C Penkett, ... Genome medicine 10, 1-10, 2018 | 148 | 2018 |
| ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic … M Bauwens, A Garanto, R Sangermano, S Naessens, N Weisschuh, ... Genetics in Medicine 21 (8), 1761-1771, 2019 | 142 | 2019 |
| Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, DL Polla, Y Song, ... Molecular psychiatry 22 (11), 1604-1614, 2017 | 132 | 2017 |
| Phenotypic insights into ADCY5‐associated disease FCF Chang, A Westenberger, RC Dale, M Smith, HS Pall, ... Movement Disorders 31 (7), 1033-1040, 2016 | 131 | 2016 |
| Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa G Arno, SA Agrawal, A Eblimit, J Bellingham, M Xu, F Wang, C Chakarova, ... The American Journal of Human Genetics 99 (6), 1305-1315, 2016 | 130 | 2016 |
| De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability D Grozeva, K Carss, O Spasic-Boskovic, MJ Parker, H Archer, HV Firth, ... The American Journal of Human Genetics 94 (4), 618-624, 2014 | 118 | 2014 |
| De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ... The American Journal of Human Genetics 103 (5), 666-678, 2018 | 111 | 2018 |
| GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome FR Danti, S Galosi, M Romani, M Montomoli, KJ Carss, FL Raymond, ... Neurology: Genetics 3 (2), e143, 2017 | 102 | 2017 |
| Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ... Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020 | 97 | 2020 |
| Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations J Rainger, D Pehlivan, S Johansson, H Bengani, L Sanchez-Pulido, ... The American Journal of Human Genetics 94 (6), 915-923, 2014 | 89 | 2014 |
