| Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, ... Molecular psychiatry 22 (4), 615-624, 2017 | 248 | 2017 |
| Expanding the genetic heterogeneity of intellectual disability S Anazi, S Maddirevula, V Salpietro, YT Asi, S Alsahli, A Alhashem, ... Human genetics 136, 1419-1429, 2017 | 168 | 2017 |
| The genetic landscape of familial congenital hydrocephalus Ann Neurol., 2017 | 145* | 2017 |
| Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants S Maddirevula, H Alhebbi, A Alqahtani, T Algoufi, HS Alsaif, N Ibrahim, ... Genetics in Medicine 21 (5), 1164-1172, 2019 | 114 | 2019 |
| Genomic and phenotypic delineation of congenital microcephaly R Shaheen, S Maddirevula, N Ewida, S Alsahli, GMH Abdel-Salam, ... Genetics in Medicine 21 (3), 545-552, 2019 | 112 | 2019 |
| Autozygome and high throughput confirmation of disease genes candidacy S Maddirevula, F Alzahrani, M Al-Owain, MA Al Muhaizea, HR Kayyali, ... Genetics in Medicine 21 (3), 736-742, 2019 | 107 | 2019 |
| Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism JJ Reynolds, LS Bicknell, P Carroll, MR Higgs, R Shaheen, JE Murray, ... Nature genetics 49 (4), 537-549, 2017 | 106 | 2017 |
| The gene curation coalition: a global effort to harmonize gene–disease evidence resources MT DiStefano, S Goehringer, L Babb, FS Alkuraya, J Amberger, M Amin, ... Genetics in Medicine 24 (8), 1732-1742, 2022 | 104 | 2022 |
| Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in zebrafish JC Van De Weghe, TDS Rusterholz, B Latour, ME Grout, KA Aldinger, ... The American Journal of Human Genetics 101 (1), 23-36, 2017 | 102 | 2017 |
| Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development MS Nahorski, S Maddirevula, R Ishimura, S Alsahli, AF Brady, ... Brain 141 (7), 1934-1945, 2018 | 96 | 2018 |
| Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract N Patel, D Anand, D Monies, S Maddirevula, AO Khan, T Algoufi, ... Human genetics 136, 205-225, 2017 | 95 | 2017 |
| Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation D Monies, S Maddirevula, W Kurdi, MH Alanazy, H Alkhalidi, M Al-Owain, ... Genetics in Medicine 19 (10), 1144-1150, 2017 | 91 | 2017 |
| A genomics approach to females with infertility and recurrent pregnancy loss S Maddirevula, K Awartani, S Coskun, LF AlNaim, N Ibrahim, ... Human genetics 139, 605-613, 2020 | 88 | 2020 |
| Female infertility caused by mutations in the oocyte-specific translational repressor PATL2 S Maddirevula, S Coskun, S Alhassan, A Elnour, HS Alsaif, N Ibrahim, ... The American Journal of Human Genetics 101 (4), 603-608, 2017 | 81 | 2017 |
| A genomics approach to male infertility N Alhathal, S Maddirevula, S Coskun, H Alali, M Assoum, T Morris, ... Genetics in Medicine 22 (12), 1967-1975, 2020 | 79 | 2020 |
| Increasing the sensitivity of clinical exome sequencing through improved filtration strategy HE Shamseldin, S Maddirevula, E Faqeih, N Ibrahim, M Hashem, ... Genetics in Medicine 19 (5), 593-598, 2017 | 74 | 2017 |
| PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly R Shaheen, M Tasak, S Maddirevula, GMH Abdel-Salam, ISM Sayed, ... Human genetics 138, 231-239, 2019 | 73 | 2019 |
| Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics S Maddirevula, H Kuwahara, N Ewida, HE Shamseldin, N Patel, ... Genome biology 21, 1-21, 2020 | 72 | 2020 |
| The landscape of early infantile epileptic encephalopathy in a consanguineous population M Nashabat, XS Al Qahtani, S Almakdob, W Altwaijri, DM Ba-Armah, ... Seizure 69, 154-172, 2019 | 65 | 2019 |
| Expanding the phenome and variome of skeletal dysplasia S Maddirevula, S Alsahli, L Alhabeeb, N Patel, F Alzahrani, ... Genetics in Medicine 20 (12), 1609-1616, 2018 | 63 | 2018 |
