| Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ... Science 370 (6515), eabd4570, 2020 | 2120 | 2020 |
| The UK10K project identifies rare variants in health and disease TUKK Consortium Nature, 2015 | 1080* | 2015 |
| Timing, rates and spectra of human germline mutation R Rahbari, A Wuster, SJ Lindsay, RJ Hardwick, LB Alexandrov, S Al Turki, ... Nature genetics 48 (2), 126-133, 2016 | 908 | 2016 |
| Large-scale discovery of novel genetic causes of developmental disorders TDDD Study Nature, 223–228, 2014 | 740* | 2014 |
| Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ... Nature genetics 48 (9), 1060-1065, 2016 | 401 | 2016 |
| Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ... Nature communications 6 (1), 8111, 2015 | 400 | 2015 |
| Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry H Olbrich, M Schmidts, C Werner, A Onoufriadis, NT Loges, J Raidt, ... The American Journal of Human Genetics 91 (4), 672-684, 2012 | 324 | 2012 |
| An organelle-specific protein landscape identifies novel diseases and molecular mechanisms K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ... Nature communications 7 (1), 11491, 2016 | 243 | 2016 |
| Rare variants in NR2F2 cause congenital heart defects in humans S Al Turki, AK Manickaraj, CL Mercer, SS Gerety, MP Hitz, S Lindsay, ... The American Journal of Human Genetics 94 (4), 574-585, 2014 | 181 | 2014 |
| Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease M Schmidts, V Frank, T Eisenberger, S Al Turki, AA Bizet, D Antony, S Rix, ... Human mutation 34 (5), 714-724, 2013 | 149 | 2013 |
| Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis GV Harlalka, A Lehman, B Chioza, EL Baple, R Maroofian, H Cross, ... Brain 136 (12), 3618-3624, 2013 | 133 | 2013 |
| Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ... Neurology 89 (10), 1035-1042, 2017 | 127 | 2017 |
| Whole-genome sequence-based analysis of thyroid function PN Taylor, E Porcu, S Chew, PJ Campbell, M Traglia, SJ Brown, ... Nature communications 6 (1), 5681, 2015 | 112 | 2015 |
| Defective presynaptic choline transport underlies hereditary motor neuropathy KES Barwick, J Wright, S Al-Turki, MM McEntagart, A Nair, B Chioza, ... The American Journal of Human Genetics 91 (6), 1103-1107, 2012 | 103 | 2012 |
| 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 |
| COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study Group; CoV-Contact Cohort; Amsterdam UMC Covid-19 Biobank; COVID Human Genetic Effort Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ... NIAID-USUHS/TAGC COVID Immunity Group, Inborn errors of type I IFN immunity …, 2020 | 84 | 2020 |
| A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans NJ Timpson, K Walter, JL Min, I Tachmazidou, G Malerba, SY Shin, ... Nature communications 5 (1), 4871, 2014 | 79 | 2014 |
| Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 RN Jinks, EG Puffenberger, E Baple, B Harding, P Crino, AB Fogo, ... Brain 138 (8), 2173-2190, 2015 | 66 | 2015 |
| Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation AN Abou Tayoun, SH Al Turki, AM Oza, MJ Bowser, AL Hernandez, ... Genetics in Medicine 18 (6), 545-553, 2016 | 64 | 2016 |
| Loss of PCLO function underlies pontocerebellar hypoplasia type III MY Ahmed, BA Chioza, A Rajab, K Schmitz-Abe, A Al-Khayat, S Al-Turki, ... Neurology 84 (17), 1745-1750, 2015 | 60 | 2015 |
