A Polymorphism* in the 5′ flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E M Baldini, I Carla Lohman, M Halonen, RP Erickson, PG Holt, FD Martinez American journal of respiratory cell and molecular biology 20 (5), 976-983, 1999 | 1106 | 1999 |
Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing. FD Martinez, PE Graves, M Baldini, S Solomon, R Erickson The Journal of clinical investigation 100 (12), 3184-3188, 1997 | 827 | 1997 |
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome J Fang, SL Dagenais, RP Erickson, MF Arlt, MW Glynn, JL Gorski, ... The American Journal of Human Genetics 67 (6), 1382-1388, 2000 | 697 | 2000 |
A cluster of seven tightly linked polymorphisms in the IL-13 gene is associated with total serum IgE levels in three populations of white children PE Graves, M Kabesch, M Halonen, CJ Holberg, M Baldini, C Fritzsch, ... Journal of Allergy and Clinical Immunology 105 (3), 506-513, 2000 | 598 | 2000 |
The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice L Nonn, RR Williams, RP Erickson, G Powis Molecular and cellular biology 23 (3), 916-922, 2003 | 525 | 2003 |
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP KR Veeramah, JE O'Brien, MH Meisler, X Cheng, SD Dib-Hajj, ... The American Journal of Human Genetics 90 (3), 502-510, 2012 | 491 | 2012 |
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund–Thomson syndrome LL Wang, A Gannavarapu, CA Kozinetz, ML Levy, RA Lewis, ... Journal of the National Cancer Institute 95 (9), 669-674, 2003 | 357 | 2003 |
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies KR Veeramah, L Johnstone, TM Karafet, D Wolf, R Sprissler, ... Epilepsia 54 (7), 1270-1281, 2013 | 339 | 2013 |
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development MA Tischfield, TM Bosley, MAM Salih, IA Alorainy, EC Sener, MJ Nester, ... Nature genetics 37 (10), 1035-1037, 2005 | 322 | 2005 |
Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y … GM Brown, RA Furlong, CA Sargent, RP Erickson, G Longepied, ... Human Molecular Genetics 7 (1), 97-107, 1998 | 278 | 1998 |
Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome J Wolfe, SM Darling, RP Erickson, IW Craig, VJ Buckle, PWJ Rigby, ... Journal of molecular biology 182 (4), 477-485, 1985 | 273 | 1985 |
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11. 23 Williams-Beuren syndrome region JS Berg, N Brunetti-Pierri, SU Peters, SHL Kang, CT Fong, J Salamone, ... Genetics in Medicine 9 (7), 427-441, 2007 | 272 | 2007 |
Microarray‐based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics SW Cheung, CA Shaw, DA Scott, A Patel, T Sahoo, CA Bacino, A Pursley, ... American journal of medical genetics Part A 143 (15), 1679-1686, 2007 | 257 | 2007 |
Cyclodextrins in the treatment of a mouse model of Niemann-Pick C disease F Camargo, RP Erickson, WS Garver, GS Hossain, PN Carbone, ... Life sciences 70 (2), 131-142, 2001 | 252 | 2001 |
Somatic gene mutation and human disease other than cancer: an update RP Erickson Mutation Research/Reviews in Mutation Research 705 (2), 96-106, 2010 | 234 | 2010 |
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. SB Cassidy, LW Lai, RP Erickson, L Magnuson, E Thomas, R Gendron, ... American journal of human genetics 51 (4), 701, 1992 | 212 | 1992 |
Post-meiotic gene expression RP Erickson Trends in Genetics 6, 264-268, 1990 | 211 | 1990 |
FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome BM Kriederman, TL Myloyde, MH Witte, SL Dagenais, CL Witte, ... Human molecular genetics 12 (10), 1179-1185, 2003 | 210 | 2003 |
Defective remodeling and maturation of the lymphatic vasculature in Angiopoietin-2 deficient mice M Dellinger, R Hunter, M Bernas, N Gale, G Yancopoulos, R Erickson, ... Developmental biology 319 (2), 309-320, 2008 | 205 | 2008 |
A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction M Witt, RP Erickson Human genetics 82, 271-274, 1989 | 204 | 1989 |