Characterization of Potocki-Lupski syndrome (dup (17)(p11. 2p11. 2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype L Potocki, W Bi, D Treadwell-Deering, CMB Carvalho, A Eifert, ... The American Journal of Human Genetics 80 (4), 633-649, 2007 | 451 | 2007 |
X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men AN Yatsenko, AP Georgiadis, A Röpke, AJ Berman, T Jaffe, M Olszewska, ... New England Journal of Medicine 372 (22), 2097-2107, 2015 | 364 | 2015 |
Development and validation of a CGH microarray for clinical cytogenetic diagnosis SW Cheung, CA Shaw, W Yu, J Li, Z Ou, A Patel, SA Yatsenko, ... Genetics in Medicine 7 (6), 422-432, 2005 | 313 | 2005 |
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases X Lu, CA Shaw, A Patel, J Li, ML Cooper, WR Wells, CM Sullivan, ... PloS one 2 (3), e327, 2007 | 258 | 2007 |
Noninvasive prenatal diagnosis of a fetal microdeletion syndrome D Peters, T Chu, SA Yatsenko, N Hendrix, WA Hogge, U Surti, K Bunce, ... New England Journal of Medicine 365 (19), 1847-1848, 2011 | 252 | 2011 |
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability S AlAsiri, S Basit, MA Wood-Trageser, SA Yatsenko, EP Jeffries, U Surti, ... The Journal of clinical investigation 125 (1), 258-262, 2015 | 235 | 2015 |
Hormad1 Mutation Disrupts Synaptonemal Complex Formation, Recombination, and Chromosome Segregation in Mammalian Meiosis YH Shin, Y Choi, SU Erdin, SA Yatsenko, M Kloc, F Yang, PJ Wang, ... PLoS genetics 6 (11), e1001190, 2010 | 219 | 2010 |
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability MA Wood-Trageser, F Gurbuz, SA Yatsenko, EP Jeffries, LD Kotan, ... The American Journal of Human Genetics 95 (6), 754-762, 2014 | 214 | 2014 |
Genetics of human female infertility SA Yatsenko, A Rajkovic Biology of reproduction 101 (3), 549-566, 2019 | 198 | 2019 |
Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development M Tannour-Louet, S Han, ST Corbett, JF Louet, S Yatsenko, L Meyers, ... PloS one 5 (10), e15392, 2010 | 178 | 2010 |
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases L Shao, CA Shaw, XY Lu, T Sahoo, CA Bacino, SR Lalani, P Stankiewicz, ... American journal of medical genetics Part A 146 (17), 2242-2251, 2008 | 164 | 2008 |
Med12 gain-of-function mutation causes leiomyomas and genomic instability P Mittal, Y Shin, SA Yatsenko, CA Castro, U Surti, A Rajkovic The Journal of clinical investigation 125 (8), 3280-3284, 2015 | 139 | 2015 |
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia M Leipoldt, M Erdel, GA Bien‐Willner, M Smyk, M Theurl, SA Yatsenko, ... Clinical genetics 71 (1), 67-75, 2007 | 123 | 2007 |
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins P Szafranski, T Gambin, AV Dharmadhikari, KC Akdemir, SN Jhangiani, ... Human genetics 135, 569-586, 2016 | 105 | 2016 |
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders J Hu, J Liao, M Sathanoori, S Kochmar, J Sebastian, SA Yatsenko, U Surti Journal of neurodevelopmental disorders 7, 1-9, 2015 | 100 | 2015 |
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34. 3 microdeletion syndrome SA Yatsenko, EK Brundage, EK Roney, SW Cheung, AC Chinault, ... Human molecular genetics 18 (11), 1924-1936, 2009 | 93 | 2009 |
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies MF Portnoi, MC Dumargne, S Rojo, SF Witchel, AJ Duncan, C Eozenou, ... Human molecular genetics 27 (7), 1228-1240, 2018 | 86 | 2018 |
Comprehensive 5-year study of cytogenetic aberrations in 668 infertile men AN Yatsenko, SA Yatsenko, JW Weedin, AE Lawrence, A Patel, ... The Journal of urology 183 (4), 1636-1642, 2010 | 81 | 2010 |
Importance of complete phenotyping in prenatal whole exome sequencing M Aarabi, O Sniezek, H Jiang, DN Saller, D Bellissimo, SA Yatsenko, ... Human genetics 137, 175-181, 2018 | 75 | 2018 |
Deletion 9q34. 3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly SA Yatsenko, SW Cheung, DA Scott, MJM Nowaczyk, M Tarnopolsky, ... Journal of medical genetics 42 (4), 328-335, 2005 | 74 | 2005 |