| Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype A Meyer-Lindenberg, PD Kohn, B Kolachana, S Kippenhan, ... Nature neuroscience 8 (5), 594-596, 2005 | 525 | 2005 |
| Parkinsonism among Gaucher disease carriers O Goker-Alpan, R Schiffmann, ME LaMarca, RL Nussbaum, ... Journal of medical genetics 41 (12), 937-940, 2004 | 439 | 2004 |
| Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease E Rogaeva, J Johnson, AE Lang, C Gulick, K Gwinn-Hardy, T Kawarai, ... Archives of neurology 61 (12), 1898-1904, 2004 | 252 | 2004 |
| Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ... The American Journal of Human Genetics 93 (5), 915-925, 2013 | 237 | 2013 |
| NAD deficiency, congenital malformations, and niacin supplementation H Shi, A Enriquez, M Rapadas, EMMA Martin, R Wang, J Moreau, CK Lim, ... New England Journal of Medicine 377 (6), 544-552, 2017 | 232 | 2017 |
| Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome D Kelberman, J Tyson, D Chandler, A McInerney, J Slee, D Albert, ... Human genetics 109, 638-645, 2001 | 177 | 2001 |
| Turner syndrome: four challenges across the lifespan EJ Sutton, A McInerney‐Leo, CA Bondy, SE Gollust, D King, B Biesecker American journal of medical genetics Part A 139 (2), 57-66, 2005 | 158 | 2005 |
| An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility MJ Green, BB Biesecker, AM McInerney, D Mauger, N Fost American journal of medical genetics 103 (1), 16-23, 2001 | 154 | 2001 |
| Clinical and positron emission tomography of Parkinson's disease caused by LRRK2 DG Hernandez, C Paisán‐Ruíz, A McInerney‐Leo, S Jain, ... Annals of neurology 57 (3), 453-456, 2005 | 135 | 2005 |
| Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy M Schmidts, J Vodopiutz, S Christou-Savina, CR Cortés, ... The American Journal of Human Genetics 93 (5), 932-944, 2013 | 133 | 2013 |
| Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60 AM McInerney-Leo, M Schmidts, CR Cortés, PJ Leo, B Gener, ... The American Journal of Human Genetics 93 (3), 515-523, 2013 | 132 | 2013 |
| SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies J Johnson, SM Hague, M Hanson, A Gibson, KE Wilson, EW Evans, ... Neurology 63 (3), 554-556, 2004 | 97 | 2004 |
| Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6 DB Sparrow, A McInerney-Leo, ZS Gucev, B Gardiner, M Marshall, PJ Leo, ... Human molecular genetics 22 (8), 1625-1631, 2013 | 96 | 2013 |
| Education about genetic testing for breast cancer susceptibility: patient preferences for a computer program or genetic counselor MJ Green, AM McInerney, BB Biesecker, N Fost American journal of medical genetics 103 (1), 24-31, 2001 | 83 | 2001 |
| Prevalence of Parkinson's disease in populations of African ancestry: a review. A McInerney-Leo, K Gwinn-Hardy, RL Nussbaum Journal of the National Medical Association 96 (7), 974, 2004 | 77 | 2004 |
| BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships A McInerney‐Leo, BB Biesecker, DW Hadley, RG Kase, TR Giambarresi, ... American Journal of Medical Genetics Part A 133 (2), 165-169, 2005 | 76 | 2005 |
| Truth-telling and Turner syndrome: the importance of diagnostic disclosure EJ Sutton, J Young, A McInerney-Leo, CA Bondy, SE Gollust, ... The Journal of pediatrics 148 (1), 102-107, 2006 | 75 | 2006 |
| Genetic testing in Parkinson's disease A McInerney‐Leo, DW Hadley, K Gwinn‐Hardy, J Hardy Movement disorders: official journal of the Movement Disorder Society 20 (1 …, 2005 | 75 | 2005 |
| Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia EM Wade, PB Daniel, ZA Jenkins, A McInerney-Leo, P Leo, T Morgan, ... The American Journal of Human Genetics 99 (2), 392-406, 2016 | 71 | 2016 |
| Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia AM McInerney-Leo, C Le Goff, PJ Leo, TJ Kenna, P Keith, JE Harris, ... Journal of medical genetics 53 (7), 457-464, 2016 | 60 | 2016 |
