| Updated clinical guidelines for diagnosing fetal alcohol spectrum disorders HE Hoyme, WO Kalberg, AJ Elliott, J Blankenship, D Buckley, AS Marais, ... Pediatrics 138 (2), 2016 | 847 | 2016 |
| Prevalence of fetal alcohol spectrum disorders in 4 US communities PA May, CD Chambers, WO Kalberg, J Zellner, H Feldman, D Buckley, ... Jama 319 (5), 474-482, 2018 | 833 | 2018 |
| Prevalence and characteristics of fetal alcohol spectrum disorders PA May, A Baete, J Russo, AJ Elliott, J Blankenship, WO Kalberg, ... Pediatrics 134 (5), 855-866, 2014 | 692 | 2014 |
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 327 | 2017 |
| De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ... Nature genetics 44 (4), 440-444, 2012 | 311 | 2012 |
| Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ... Nature genetics 44 (4), 445-449, 2012 | 280 | 2012 |
| Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ... Nature genetics 47 (8), 926-932, 2015 | 219 | 2015 |
| Phenotype and genotype in 101 males with X-linked creatine transporter deficiency JM van de Kamp, OT Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, ... Journal of medical genetics 50 (7), 463-472, 2013 | 157 | 2013 |
| The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21. 31 microdeletion versus a KANSL1 sequence variant DA Koolen, R Pfundt, K Linda, G Beunders, HE Veenstra-Knol, JH Conta, ... European Journal of Human Genetics 24 (5), 652-659, 2016 | 156 | 2016 |
| 22q11. 2 deletion syndrome in diverse populations P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ... American Journal of Medical Genetics Part A 173 (4), 879-888, 2017 | 150 | 2017 |
| Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome PM Campeau, JC Kim, JT Lu, JA Schwartzentruber, OA Abdul-Rahman, ... The American Journal of Human Genetics 90 (2), 282-289, 2012 | 147 | 2012 |
| BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome LM Reis, RC Tyler, KF Schilter, O Abdul-Rahman, JW Innis, BA Kozel, ... Human genetics 130, 495-504, 2011 | 136 | 2011 |
| 7q11. 23 Duplication syndrome: Physical characteristics and natural history CA Morris, CB Mervis, AP Paciorkowski, O Abdul‐Rahman, SL Dugan, ... American journal of medical genetics Part A 167 (12), 2916-2935, 2015 | 129 | 2015 |
| Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: a randomized clinical trial ID Krantz, L Medne, JM Weatherly, KT Wild, S Biswas, B Devkota, ... JAMA pediatrics 175 (12), 1218-1226, 2021 | 125 | 2021 |
| Down syndrome in diverse populations P Kruszka, AR Porras, AK Sobering, FA Ikolo, S La Qua, V Shotelersuk, ... American Journal of Medical Genetics Part A 173 (1), 42-53, 2017 | 108 | 2017 |
| Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency CW Carr, D Moreno-De-Luca, C Parker, HH Zimmerman, N Ledbetter, ... European Journal of Human Genetics 18 (11), 1216-1220, 2010 | 108 | 2010 |
| FOXP1 mutations cause intellectual disability and a recognizable phenotype AK Le Fevre, S Taylor, NH Malek, D Horn, CW Carr, OA Abdul‐Rahman, ... American journal of medical genetics Part A 161 (12), 3166-3175, 2013 | 104 | 2013 |
| Noonan syndrome in diverse populations P Kruszka, AR Porras, YA Addissie, A Moresco, S Medrano, GTK Mok, ... American Journal of Medical Genetics Part A 173 (9), 2323-2334, 2017 | 93 | 2017 |
| Nicolaides–Baraitser syndrome: delineation of the phenotype SB Sousa, OA Abdul‐Rahman, A Bottani, V Cormier‐Daire, A Fryer, ... American Journal of Medical Genetics Part A 149 (8), 1628-1640, 2009 | 80 | 2009 |
| Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 R Reddy, E Akoury, NM Phuong Nguyen, OA Abdul-Rahman, C Dery, ... European Journal of Human Genetics 21 (9), 957-964, 2013 | 79 | 2013 |
H. Eugene Hoyme, MD, FACMG, FAAPMed Director, Sanford Children's Genomic Med Consortium; Emeritus Professor Univ South DakotaVerified email at sanfordhealth.org
