| Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions GB Schaefer, NJ Mendelsohn, ... Genetics in Medicine 15 (5), 399-407, 2013 | 575 | 2013 |
| Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations JJ Johnston, I Olivos-Glander, C Killoran, E Elson, JT Turner, KF Peters, ... The American Journal of Human Genetics 76 (4), 609-622, 2005 | 302 | 2005 |
| WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta SM Pyott, TT Tran, DF Leistritz, MG Pepin, NJ Mendelsohn, RT Temme, ... The American Journal of Human Genetics 92 (4), 590-597, 2013 | 234 | 2013 |
| Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease YH Messinger, NJ Mendelsohn, W Rhead, D Dimmock, E Hershkovitz, ... Genetics in medicine 14 (1), 135-142, 2012 | 226 | 2012 |
| Genetics evaluation for the etiologic diagnosis of autism spectrum disorders GB Schaefer, NJ Mendelsohn Genetics in Medicine 10 (1), 4-12, 2008 | 221 | 2008 |
| Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ... The American Journal of Human Genetics 102 (1), 69-87, 2018 | 193 | 2018 |
| Genetic testing for dilated cardiomyopathy in clinical practice NK Lakdawala, BH Funke, S Baxter, AL Cirino, AE Roberts, DP Judge, ... Journal of cardiac failure 18 (4), 296-303, 2012 | 193 | 2012 |
| Elimination of antibodies to recombinant enzyme in Pompe's disease NJ Mendelsohn, YH Messinger, AS Rosenberg, PS Kishnani New England Journal of Medicine 360 (2), 194-195, 2009 | 171 | 2009 |
| Clinical genetics evaluation in identifying the etiology of autism spectrum disorders GB Schaefer, NJ Mendelsohn, ... Genetics in Medicine 10 (4), 301-305, 2008 | 168 | 2008 |
| Genotype differences in cognitive functioning in Noonan syndrome EI Pierpont, ME Pierpont, NJ Mendelsohn, AE Roberts, E Tworog‐Dube, ... Genes, Brain and Behavior 8 (3), 275-282, 2009 | 129 | 2009 |
| Validity of hospital discharge data for identifying infants with cardiac defects BK Frohnert, RC Lussky, MA Alms, NJ Mendelsohn, DM Symonik, ... Journal of Perinatology 25 (11), 737-742, 2005 | 129 | 2005 |
| Professional P, Guidelines C GB Schaefer, NJ Mendelsohn Clinical genetics evaluation in identifying the etiology of autism spectrum …, 2013 | 127 | 2013 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 120 | 2014 |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in … M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ... Human mutation 41 (1), 299-315, 2020 | 109 | 2020 |
| The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management PS Kishnani, AA Beckemeyer, NJ Mendelsohn American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2012 | 102 | 2012 |
| POGZ truncating alleles cause syndromic intellectual disability J White, CR Beck, T Harel, JE Posey, SN Jhangiani, S Tang, KD Farwell, ... Genome Medicine 8, 1-11, 2016 | 95 | 2016 |
| Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey NJ Mendelsohn, P Harmatz, O Bodamer, BK Burton, R Giugliani, ... Genetics in Medicine 12 (12), 816-822, 2010 | 84 | 2010 |
| Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation M Koczkowska, T Callens, A Gomes, A Sharp, Y Chen, AD Hicks, ... Genetics in Medicine 21 (4), 867-876, 2019 | 82 | 2019 |
| Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing H Yu, VW Zhang, A Stray-Pedersen, IC Hanson, LR Forbes, ... Journal of allergy and clinical immunology 138 (4), 1142-1151. e2, 2016 | 75 | 2016 |
| Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome JM Milunsky, TM Maher, G Zhao, Z Wang, JB Mulliken, D Chitayat, ... American Journal of Medical Genetics Part A 155 (1), 22-32, 2011 | 73 | 2011 |
