Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ... The American Journal of Human Genetics 86 (5), 749-764, 2010 | 3146 | 2010 |
Structural variation of chromosomes in autism spectrum disorder CR Marshall, A Noor, JB Vincent, AC Lionel, L Feuk, J Skaug, M Shago, ... The American Journal of Human Genetics 82 (2), 477-488, 2008 | 2155 | 2008 |
Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study Q Yang, SA Rasmussen, JM Friedman The Lancet 359 (9311), 1019-1025, 2002 | 1082 | 2002 |
Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children K DeBella, J Szudek, JM Friedman Pediatrics 105 (3), 608-614, 2000 | 735 | 2000 |
Epidemiology of neurofibromatosis type 1 JM Friedman American journal of medical genetics 89 (1), 1-6, 1999 | 690 | 1999 |
A reevaluation of risk of in utero exposure to lithium LS Cohen, JM Friedman, JW Jefferson, EM Johnson, ML Weiner Jama 271 (2), 146-150, 1994 | 676 | 1994 |
Mortality in neurofibromatosis 1: an analysis using US death certificates SA Rasmussen, Q Yang, JM Friedman The American Journal of Human Genetics 68 (5), 1110-1118, 2001 | 618 | 2001 |
Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects S Alwan, J Reefhuis, SA Rasmussen, RS Olney, JM Friedman Obstetrical & Gynecological Survey 62 (11), 702-703, 2007 | 606 | 2007 |
Clinical and genetic aspects of neurofibromatosis 1 K Jett, JM Friedman Genetics in Medicine 12 (1), 1-11, 2010 | 592 | 2010 |
Neurofibromatosis 1 JM Friedman | 576 | 2022 |
Massively parallel sequencing: the next big thing in genetic medicine T Tucker, M Marra, JM Friedman The American Journal of Human Genetics 85 (2), 142-154, 2009 | 531 | 2009 |
Improvement in stroke mortality in Canada and the United States, 1990 to 2002 Q Yang, LD Botto, JD Erickson, RJ Berry, C Sambell, H Johansen, ... Circulation 113 (10), 1335-1343, 2006 | 521 | 2006 |
Population-based analyses of mortality in trisomy 13 and trisomy 18 SA Rasmussen, LYC Wong, Q Yang, KM May, JM Friedman Pediatrics 111 (4), 777-784, 2003 | 516 | 2003 |
NF1 Gene and Neurofibromatosis 1 SA Rasmussen, JM Friedman American journal of epidemiology 151 (1), 33-40, 2000 | 515 | 2000 |
Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients JM Friedman, PH Birch American journal of medical genetics 70 (2), 138-143, 1997 | 512 | 1997 |
Evidence for multi‐site closure of the neural tube in humans MI Van Allen, DK Kalousek, GF Chernoff, D Juriloff, M Harris, ... American journal of medical genetics 47 (5), 723-743, 1993 | 511 | 1993 |
Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force JM Friedman, J Arbiser, JA Epstein, DH Gutmann, SJ Huot, AE Lin, ... Genetics in Medicine 4 (3), 105-111, 2002 | 479 | 2002 |
Prevalence of neurofibromatosis 1 in German children at elementary school enrollment M Lammert, JM Friedman, L Kluwe, VF Mautner Archives of dermatology 141 (1), 71-74, 2005 | 474 | 2005 |
Diagnostic criteria for schwannomatosis M MacCollin, EA Chiocca, DG Evans, JM Friedman, R Horvitz, D Jaramillo, ... Neurology 64 (11), 1838-1845, 2005 | 441 | 2005 |
Evolving knowledge of the teratogenicity of medications in human pregnancy MP Adam, JE Polifka, JM Friedman American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2011 | 431 | 2011 |