| Clinical exome sequencing for genetic identification of rare Mendelian disorders H Lee, JL Deignan, N Dorrani, SP Strom, S Kantarci, F Quintero-Rivera, ... Jama 312 (18), 1880-1887, 2014 | 1075 | 2014 |
| American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants HM Kearney, EC Thorland, KK Brown, F Quintero-Rivera, ST South, ... Genetics in Medicine 13 (7), 680-685, 2011 | 915 | 2011 |
| Working Group of the American College of Medical Genetics Laboratory Quality Assurance C. American College of Medical Genetics standards and guidelines for interpretation and … HM Kearney, EC Thorland, KK Brown, F Quintero-Rivera, ST South Genet Med 13 (7), 680-5, 2011 | 253 | 2011 |
| Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia BL Fogel, H Lee, JL Deignan, SP Strom, S Kantarci, X Wang, ... JAMA neurology 71 (10), 1237-1246, 2014 | 251 | 2014 |
| Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux W Lu, AM Van Eerde, X Fan, F Quintero-Rivera, S Kulkarni, H Ferguson, ... The American Journal of Human Genetics 80 (4), 616-632, 2007 | 244 | 2007 |
| Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome RL Collins, H Brand, CE Redin, C Hanscom, C Antolik, MR Stone, ... Genome biology 18, 1-21, 2017 | 197 | 2017 |
| Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 177 | 2014 |
| Rescue of a human mRNA splicing defect by the plant cytokinin kinetin SA Slaugenhaupt, J Mull, M Leyne, MP Cuajungco, SP Gill, MM Hims, ... Human molecular genetics 13 (4), 429-436, 2004 | 170 | 2004 |
| Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project AW Higgins, FS Alkuraya, AF Bosco, KK Brown, GAP Bruns, DJ Donovan, ... The American Journal of Human Genetics 82 (3), 712-722, 2008 | 138 | 2008 |
| NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects W Lu, F Quintero-Rivera, Y Fan, FS Alkuraya, DJ Donovan, Q Xi, ... PLoS genetics 3 (5), e80, 2007 | 136 | 2007 |
| De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay VA Arboleda, H Lee, N Dorrani, N Zadeh, M Willis, CF Macmurdo, ... The American Journal of Human Genetics 96 (3), 498-506, 2015 | 135 | 2015 |
| DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies J Ji, H Lee, B Argiropoulos, N Dorrani, J Mann, JA Martinez-Agosto, ... European Journal of Human Genetics 23 (11), 1473-1481, 2015 | 126 | 2015 |
| MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus F Quintero-Rivera, QJ Xi, KM Keppler-Noreuil, JH Lee, AW Higgins, ... Human molecular genetics 24 (8), 2375-2389, 2015 | 114 | 2015 |
| Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review F Quintero‐Rivera, P Sharifi‐Hannauer, JA Martinez‐Agosto American journal of medical genetics Part A 152 (10), 2459-2467, 2010 | 108 | 2010 |
| Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases US Melo, R Schöpflin, R Acuna-Hidalgo, MA Mensah, B Fischer-Zirnsak, ... The American Journal of Human Genetics 106 (6), 872-884, 2020 | 103 | 2020 |
| Structural chromosomal rearrangements require nucleotide-level resolution: lessons from next-generation sequencing in prenatal diagnosis Z Ordulu, T Kammin, H Brand, V Pillalamarri, CE Redin, RL Collins, ... The American Journal of Human Genetics 99 (5), 1015-1033, 2016 | 63 | 2016 |
| De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing SP Strom, R Lozano, H Lee, N Dorrani, J Mann, PF O’Lague, N Mans, ... BMC Medical Genetics 15, 1-8, 2014 | 63 | 2014 |
| Mandibulofacial dysostosis with microcephaly: mutation and database update L Huang, MR Vanstone, T Hartley, M Osmond, N Barrowman, J Allanson, ... Human mutation 37 (2), 148-154, 2016 | 62 | 2016 |
| Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect IE Amarillo, KM Dipple, F Quintero‐Rivera American Journal of Medical Genetics Part A 161 (5), 1167-1172, 2013 | 54 | 2013 |
| Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. F Quintero-Rivera, CD Robson, RE Reiss, D Levine, CB Benson, ... American journal of medical genetics. Part A 140 (12), 1337-1338, 2006 | 50 | 2006 |
