Fatal acute encephalopathy in two siblings: A distinct hereditary entity?PRASUN, Pankaj; STOCKTON, David W.Journal of the neurological sciences. 2012, Vol 314, Num 1-2, pp 155-157, issn 0022-510X, 3 p.Article

The fibroblast growth factor receptor-4 Arg³⁸⁸ allele is associated with prostate cancer initiation and progressionJIANGHUA WANG; STOCKTON, David W; ITTMANN, Michael et al.Clinical cancer research. 2004, Vol 10, Num 18, pp 6169-6178, issn 1078-0432, 10 p.Article

Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the diseaseKRALOVICS, Robert; STOCKTON, David W; PRCHAL, Josef T et al.Blood. 2003, Vol 102, Num 10, pp 3793-3796, issn 0006-4971, 4 p.Article

Congenital polycythemias/erythrocytosesGORDEUK, Victor R; STOCKTON, David W; PRCHAL, Josef T et al.Haematologica (Roma). 2005, Vol 90, Num 1, pp 109-116, issn 0390-6078, 8 p.Article

The worldwide distribution of the VHL 598C>T mutation indicates a single founding eventENLI LIU; PERCY, Melanie J; JEDLICKOVA, Katerina et al.Blood. 2004, Vol 103, Num 5, pp 1937-1940, issn 0006-4971, 4 p.Article

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosisWISZNIEWSKI, Wojciech; LEWIS, Richard Alan; STOCKTON, David W et al.Human genetics. 2011, Vol 129, Num 3, pp 319-327, issn 0340-6717, 9 p.Article

A novel Gln358Glu mutation in ectodysplasin a associated with X-linked dominant incisor hypodontiaTARPEY, Patrick; PEMBERTON, Trevor J; STRATTON, Michael R et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 4, pp 390-394, issn 1552-4825, 5 p.Article

Genetic association analysis of chronic mountain sickness in an Andean high-altitude populationMEJIA, Olga M; PRCHAL, Josef T; LEON-VELARDE, Fabiola et al.Haematologica (Roma). 2005, Vol 90, Num 1, pp 13-18, issn 0390-6078, 6 p.Article

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK SyndromeMCLARREN, Keith W; SEVERSON, Tesa M; JIANGHONG AN et al.American journal of human genetics. 2010, Vol 87, Num 6, pp 905-914, issn 0002-9297, 10 p.Article

Heterozygous and homozygous mutations in PITX3 in a large lebanese family with posterior polar cataracts and neurodevelopmental abnormalitiesBIDINOST, Carla; MATSUMOTO, Masayuki; CHUNG, Daniel et al.Investigative ophthalmology & visual science. 2006, Vol 47, Num 4, pp 1274-1280, issn 0146-0404, 7 p.Article

Recurrent biparental hydatidiform mole : Additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysisPANICHKUL, Prisana C; AL-HUSSAINI, Tarek K; SIERRA, Rebecca et al.Journal of the Society for Gynecologic Investigation. 2005, Vol 12, Num 5, pp 376-383, issn 1071-5576, 8 p.Article

Mutant chromatin remodeling protein SMARCAL1 causes schimke immuno-osseous dysplasiaBOERKOEL, Cornelius F; TAKASHIMA, Hiroshi; CORDEIRO, Isabel et al.Nature genetics. 2002, Vol 30, Num 2, pp 215-220, issn 1061-4036Article

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleTHOMPSON, Debra A; JANECKE, Andreas R; AYUSO, Carmen et al.Human molecular genetics (Print). 2005, Vol 14, Num 24, pp 3865-3875, issn 0964-6906, 11 p.Article

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3AJIANG, Yong-Hui; SAHOO, Trilochan; SPIELMAN, Richard S et al.American journal of medical genetics. 2004, Vol 131A, Num 1, pp 1-10, issn 0148-7299, 10 p.Article

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletionsLALANI, Seema R; STOCKTON, David W; LIN, Angela E et al.American journal of medical genetics. 2003, Vol 118A, Num 3, pp 260-266, issn 0148-7299, 7 p.Article

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontiaDAS, Parimal; STOCKTON, David W; BAUER, Christopher et al.Human genetics. 2002, Vol 110, Num 4, pp 371-376, issn 0340-6717Article

Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndromeSTOCKTON, David W; MEADE, Ricardo A; NETSCHER, David T et al.Archives of neurology (Chicago). 2001, Vol 58, Num 10, pp 1635-1637, issn 0003-9942Article

A De Novo Deletion of CALN1 in a Male With a Bilateral Diaphragmatic Defect Does Not Definitely Cause This MalformationSLAVOTINEK, Anne M; ROSENFELD, Jill A; CHAO, Ryan et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 5, pp 1196-1201, issn 1552-4825, 6 p.Article

Severe Mental Retardation, Seizures, and Hypotonia Due to Deletions of MEF2CNOWAKOWSKA, Beata A; OBERSZTYN, Ewa; PATEL, Ankita et al.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2010, Vol 153, Num 5, pp 1042-1051, issn 1552-4841, 10 p.Article

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivityEICHERS, Erica R; ABD-EL-BARR, Muhammad M; JUSTICE, Monica J et al.Human genetics. 2006, Vol 120, Num 2, pp 211-226, issn 0340-6717, 16 p.Article

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1EICHERS, Erica R; GREEN, Jane S; STOCKTON, David W et al.American journal of human genetics. 2002, Vol 70, Num 4, pp 955-964, issn 0002-9297Article

Microdeletion 9q22.3 Syndrome Includes Metopic Craniosynostosis, Hydrocephalus, Macrosomia, and Developmental DelayMULLER, Eric A; ARADHYA, Swaroop; HERMAN, Gail E et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 2, pp 391-399, issn 1552-4825, 9 p.Article

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number VariantsGIRIRAJAN, Santhosh; ROSENFELD, Jill A; NEZARATI, Marjan M et al.The New England journal of medicine. 2012, Vol 367, Num 14, pp 1321-1331, issn 0028-4793, 11 p.Article

Of mice and men : Tyrosinase modification of congenital glaucoma in mice but not in humansBIDINOST, Carla; HERNANDEZ, Natalie; EDWARD, Deepak P et al.Investigative ophthalmology & visual science. 2006, Vol 47, Num 4, pp 1486-1490, issn 0146-0404, 5 p.Article

Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption : CDAGSMENDOZA-LONDONO, Roberto; LAMMER, Edward; HEDGE, Madhuri R et al.American journal of human genetics. 2005, Vol 77, Num 1, pp 161-168, issn 0002-9297, 8 p.Article