| Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis JA Martignetti, L Tian, D Li, MCM Ramirez, O Camacho-Vanegas, ... The American Journal of Human Genetics 92 (6), 1001-1007, 2013 | 205 | 2013 |
| Genetic diagnosis and testing in clinical practice E McPherson Clinical Medicine and Research 4 (2), 123, 2006 | 145 | 2006 |
| De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ... The American Journal of Human Genetics 96 (3), 462-473, 2015 | 144 | 2015 |
| Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone … U Schwarze, T Cundy, SM Pyott, HE Christiansen, MR Hegde, RA Bank, ... Human molecular genetics 22 (1), 1-17, 2013 | 140 | 2013 |
| Dominantly inherited renal adysplasia E McPherson, J Carey, A Kramer, JG Hall, RM Pauli, RN Schimke, ... American journal of medical genetics 26 (4), 863-872, 1987 | 136 | 1987 |
| Proximal microdeletions and microduplications of 1q21. 1 contribute to variable abnormal phenotypes JA Rosenfeld, RN Traylor, GB Schaefer, EW McPherson, BC Ballif, ... European Journal of Human Genetics 20 (7), 754-761, 2012 | 106 | 2012 |
| An analysis of PAX1 in the development of vertebral malformations PF Giampietro, CL Raggio, CE Reynolds, SK Shukla, E McPherson, ... Clinical genetics 68 (5), 448-453, 2005 | 91 | 2005 |
| Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals BD Solomon, F Lacbawan, S Mercier, NJ Clegg, MR Delgado, ... Journal of medical genetics 47 (8), 513-524, 2010 | 89 | 2010 |
| Renal anomalies in families of individuals with congenital solitary kidney E McPherson Genetics in medicine 9 (5), 298-302, 2007 | 84 | 2007 |
| Single umbilical artery: what does it mean for the fetus? A case-control analysis of pathologically ascertained cases S Prucka, M Clemens, C Craven, E McPherson Genetics in Medicine 6 (1), 54-57, 2004 | 82 | 2004 |
| FMR1 CGG expansions: Prevalence and sex ratios MJ Maenner, MW Baker, KW Broman, J Tian, JK Barnes, A Atkins, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013 | 79 | 2013 |
| Clinical genetics provider real-time workflow study E McPherson, C Zaleski, K Benishek, CA McCarty, PF Giampietro, ... Genetics in Medicine 10 (9), 699-706, 2008 | 76 | 2008 |
| Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case E McPherson, M Clemens American journal of medical genetics 70 (1), 28-31, 1997 | 76 | 1997 |
| A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations N Ghebranious, RD Blank, CL Raggio, J Staubli, E McPherson, L Ivacic, ... Journal of bone and mineral research 23 (10), 1576-1583, 2008 | 74 | 2008 |
| The co-occurrence of early onset Parkinson disease and 22q11. 2 deletion syndrome C Zaleski, AS Bassett, K Tam, AL Shugar, EWC Chow, E McPherson American journal of medical genetics. Part A 149 (3), 525, 2009 | 65 | 2009 |
| Infant with severe penicillamine embryopathy born to a woman with Wilson disease R Pinter, WA Hogge, E McPherson American Journal of Medical Genetics Part A 128 (3), 294-298, 2004 | 63 | 2004 |
| Stillbirth: the heart of the matter M Jorgensen, E McPherson, C Zaleski, P Shivaram, C Cold American Journal of Medical Genetics Part A 164 (3), 691-699, 2014 | 59 | 2014 |
| DLL3 as a candidate gene for vertebral malformations PF Giampietro, CL Raggio, C Reynolds, N Ghebranious, JK Burmester, ... American Journal of Medical Genetics Part A 140 (22), 2447-2453, 2006 | 56 | 2006 |
| Pallister‐Killian and Fryns syndromes: nosology EW McPherson, DM Ketterer, DJ Salsburey American journal of medical genetics 47 (2), 241-245, 1993 | 56 | 1993 |
| Recurrence of stillbirth and second trimester pregnancy loss E McPherson American Journal of Medical Genetics Part A 170 (5), 1174-1180, 2016 | 54 | 2016 |
