| A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome MJ Lindhurst, JC Sapp, JK Teer, JJ Johnston, EM Finn, K Peters, J Turner, ... New England Journal of Medicine 365 (7), 611-619, 2011 | 979 | 2011 |
| A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ... Nature genetics 42 (3), 203-209, 2010 | 665 | 2010 |
| HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle MA Deardorff, M Bando, R Nakato, E Watrin, T Itoh, M Minamino, K Saitoh, ... Nature 489 (7415), 313-317, 2012 | 650 | 2012 |
| Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation MA Deardorff, M Kaur, D Yaeger, A Rampuria, S Korolev, J Pie, ... The American Journal of Human Genetics 80 (3), 485-494, 2007 | 605 | 2007 |
| Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis LK Conlin, BD Thiel, CG Bonnemann, L Medne, LM Ernst, EH Zackai, ... Human molecular genetics 19 (7), 1263-1275, 2010 | 538 | 2010 |
| Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases R Chen, L Shi, J Hakenberg, B Naughton, P Sklar, J Zhang, H Zhou, ... Nature biotechnology 34 (5), 531-538, 2016 | 356 | 2016 |
| Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis U Rothbächer, MN Laurent, MA Deardorff, PS Klein, KWY Cho, SE Fraser The EMBO journal 19 (5), 1010-1022, 2000 | 353 | 2000 |
| Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement AD Kline, JF Moss, A Selicorni, AM Bisgaard, MA Deardorff, PM Gillett, ... Nature Reviews Genetics 19 (10), 649-666, 2018 | 348 | 2018 |
| RAD21 mutations cause a human cohesinopathy MA Deardorff, JJ Wilde, M Albrecht, E Dickinson, S Tennstedt, ... The American Journal of Human Genetics 90 (6), 1014-1027, 2012 | 322 | 2012 |
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 321 | 2017 |
| Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ... Nature genetics 44 (4), 445-449, 2012 | 277 | 2012 |
| Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells J Liu, Z Zhang, M Bando, T Itoh, MA Deardorff, D Clark, M Kaur, S Tandy, ... PLoS biology 7 (5), e1000119, 2009 | 265 | 2009 |
| Frizzled-8 is expressed in the Spemann organizer and plays a role in early morphogenesis MA Deardorff, C Tan, LJ Conrad, PS Klein Development 125 (14), 2687-2700, 1998 | 194 | 1998 |
| Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 181 | 2014 |
| A role for frizzled 3 in neural crest development MA Deardorff, C Tan, JP Saint-Jeannet, PS Klein Oxford University Press for The Company of Biologists Limited 128 (19), 3655 …, 2001 | 181 | 2001 |
| Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss AJ Tanaka, MT Cho, F Millan, J Juusola, K Retterer, C Joshi, D Niyazov, ... The American Journal of Human Genetics 97 (3), 457-464, 2015 | 176 | 2015 |
| Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine RC Green, KAB Goddard, GP Jarvik, LM Amendola, PS Appelbaum, ... The American Journal of Human Genetics 98 (6), 1051-1066, 2016 | 171 | 2016 |
| Regulation of glycogen synthase kinase 3β and downstream Wnt signaling by axin CM Hedgepeth, MA Deardorff, K Rankin, PS Klein Molecular and cellular biology, 1999 | 167 | 1999 |
| CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease KA Strauss, RN Jinks, EG Puffenberger, S Venkatesh, K Singh, I Cheng, ... The American Journal of Human Genetics 96 (1), 121-135, 2015 | 158 | 2015 |
| Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions E Aref-Eshghi, EG Bend, S Colaiacovo, M Caudle, R Chakrabarti, ... The American Journal of Human Genetics 104 (4), 685-700, 2019 | 157 | 2019 |
Laura K ConlinAssistant Professor, Department of Pathology and Laboratory Medicine, University of Pennsylvania在 email.chop.edu 的电子邮件经过验证
