| Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux P Sanyanusin, LA Schimmenti, LA McNoe, TA Ward, MEM Pierpont, ... Nature genetics 9 (4), 358-364, 1995 | 764 | 1995 |
| Mutations in Cypher/ZASPin patients with dilated cardiomyopathy and left ventricular non-compaction M Vatta, B Mohapatra, S Jimenez, X Sanchez, G Faulkner, Z Perles, ... Journal of the American College of Cardiology 42 (11), 2014-2027, 2003 | 681 | 2003 |
| A primer for morpholino use in zebrafish BR Bill, AM Petzold, KJ Clark, LA Schimmenti, SC Ekker Zebrafish, 2022 | 622 | 2022 |
| Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ... Human mutation 39 (11), 1593-1613, 2018 | 356 | 2018 |
| WNT5A mutations in patients with autosomal dominant Robinow syndrome AD Person, S Beiraghi, CM Sieben, S Hermanson, AN Neumann, ... Developmental dynamics: an official publication of the American Association …, 2010 | 274 | 2010 |
| A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy G Silvestri, FM Santorelli, S Shanske, CB Whitley, LA Schimmenti, ... Human mutation 3 (1), 37-43, 1994 | 207 | 1994 |
| Novel mutation in sonic hedgehog in non‐syndromic colobomatous microphthalmia LA Schimmenti, J De la Cruz, RA Lewis, JD Karkera, GS Manligas, ... American journal of medical genetics Part A 116 (3), 215-221, 2003 | 193 | 2003 |
| Renal‐coloboma syndrome: a multi‐system developmental disorder caused by PAX2 mutations MR Eccles, LA Schimmenti Clinical genetics 56 (1), 1-9, 1999 | 179 | 1999 |
| Platelet endothelial cell adhesion molecule, PECAM‐1, modulates cell migration LA Schimmenti, HC Yan, JA Madri, SM Albelda Journal of cellular physiology 153 (2), 417-428, 1992 | 169 | 1992 |
| SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ... Nature genetics 49 (2), 238-248, 2017 | 168 | 2017 |
| Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. LA Schimmenti, HE Cunliffe, LA McNoe, TA Ward, MC French, HH Shim, ... American journal of human genetics 60 (4), 869, 1997 | 155 | 1997 |
| Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database M Bower, R Salomon, J Allanson, C Antignac, F Benedicenti, E Benetti, ... Human mutation 33 (3), 457-466, 2012 | 154 | 2012 |
| Parents’ perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors CG Selkirk, P McCarthy Veach, F Lian, L Schimmenti, BS LeRoy Journal of genetic counseling 18, 507-519, 2009 | 148 | 2009 |
| Axenfeld-Rieger syndrome: new perspectives TC Chang, CG Summers, LA Schimmenti, AL Grajewski British Journal of Ophthalmology 96 (3), 318-322, 2012 | 135 | 2012 |
| Renal coloboma syndrome LA Schimmenti European journal of human genetics 19 (12), 1207-1212, 2011 | 133 | 2011 |
| Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities J Balciuniene, N Feng, K Iyadurai, B Hirsch, L Charnas, BR Bill, ... The American Journal of Human Genetics 80 (5), 938-947, 2007 | 128 | 2007 |
| Expanded newborn screening identifies maternal primary carnitine deficiency LA Schimmenti, EA Crombez, BC Schwahn, BA Heese, TC Wood, ... Molecular genetics and metabolism 90 (4), 441-445, 2007 | 122 | 2007 |
| Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome MA Pickart, EW Klee, AL Nielsen, S Sivasubbu, EM Mendenhall, BR Bill, ... PloS one 1 (1), e104, 2006 | 100 | 2006 |
| TLR9 polymorphisms are associated with altered IFN-γ levels in children with cerebral malaria NA Sam-Agudu, JA Greene, RO Opoka, JW Kazura, MJ Boivin, ... The American journal of tropical medicine and hygiene 82 (4), 548, 2010 | 78 | 2010 |
| ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs MT DiStefano, SE Hemphill, AM Oza, RK Siegert, AR Grant, MY Hughes, ... Genetics in Medicine 21 (10), 2239-2247, 2019 | 77 | 2019 |
Stephen EkkerUniversity of Texas at Austin在 austin.utexas.edu 的电子邮件经过验证
Stephen EkkerUniversity of Texas at Austin在 austin.utexas.edu 的电子邮件经过验证
Brent BillThe University of Texas at Tyler在 uttyler.edu 的电子邮件经过验证