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David Wayne Stockton

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Tyler F Beck; Terry K Bertin; Sunju Choi; Annelies de Klein; Hannie Douben; Monica J Justice; Bum Jun Kim; Brendan Lee; Pragna I Patel; Oleg A Shchelochkov; David Wayne Stockton; Dick Tibboel; Yolande van Bever; Danielle Veenma; Zhiyin Yu; Hitisha P Zaveri; Daryl A Scott
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Tyler F Beck; Colin Bishop; Andres Hernandez-Garcia; Monica J Justice; Bum Jun Kim; Paul A Overbeek; Oleg A Shchelochkov; David Wayne Stockton; Zhiyin Yu; Hitisha P Zaveri; Daryl A Scott
Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.
Bum Jun Kim; Brendan Lee; John S Oghalai; Fred A Pereira; Michelle L Seymour; Oleg A Shchelochkov; David Wayne Stockton; Zhiyin Yu; Hitisha P Zaveri; Andres Hernandez-Garcia; Monica J Justice; Daryl A Scott
An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.

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2013: Tyler F Beck; Terry K Bertin; Sunju Choi; Annelies de Klein; Hannie Douben; Monica J Justice; Bum Jun Kim; Brendan Lee; Pragna I Patel; Oleg A Shchelochkov; David Wayne Stockton; Dick Tibboel; Yolande van Bever; Danielle Veenma; Zhiyin Yu; Hitisha P Zaveri; Daryl A Scott
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Human molecular genetics 2013;22(5):1026-38.
2013: Tyler F Beck; Colin Bishop; Andres Hernandez-Garcia; Monica J Justice; Bum Jun Kim; Paul A Overbeek; Oleg A Shchelochkov; David Wayne Stockton; Zhiyin Yu; Hitisha P Zaveri; Daryl A Scott
Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.
PloS one 2013;8(3):e58830.
2013: Bum Jun Kim; Brendan Lee; John S Oghalai; Fred A Pereira; Michelle L Seymour; Oleg A Shchelochkov; David Wayne Stockton; Zhiyin Yu; Hitisha P Zaveri; Andres Hernandez-Garcia; Monica J Justice; Daryl A Scott
An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.
PloS one 2013;8(2):e57460.
2012: Santhosh Girirajan; Amy Goldstein; Gordon C Gowans; Kelly E Jackson; Kisha D Johnson; Robert R Lebel; Kathleen Leppig; Donna M Martin; Judith A Martin; Laura S Martin; Juliann S McConnell; Marianne McGuire; Wendy S Meschino; Marjan M Nezarati; Dmitriy M Niyazov; Sumit Parikh; Lynette S Penney; Salmo Raskin; Jill A Rosenfeld; Rhonda E Schnur; Lisa G Shaffer; Natasha Shur; Kiana Siefkas; Rosemarie Smith; J Edward Spence; David Wayne Stockton; Heidi Thiese; Erika Aberg; Brad Angle; Alexander Asamoah; Susie Ball; Blake C Ballif; Campbell K Brasington; Erin P Carmany; Carol Clericuzio; Bradley P Coe; Dima El-Khechen; Luis F Escobar; Robyn A Filipink; Neil Friedman; Evan E Eichler
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
The New England journal of medicine 2012;367(14):1321-31.
2012: Pankaj Prasun; David Wayne Stockton
Fatal acute encephalopathy in two siblings: a distinct hereditary entity?
Journal of the neurological sciences 2012;314(1-2):155-7.
2012: Matthew Bower; Pierre Cochat; Stephane DeCramer; Joanne Dixon; Regen Drouin; Michael Eccles; Marni J Falk; Holly Feret; Robert Gise; Judith Allanson; Corinne Antignac; Francesco Benedicenti; Elisa Benetti; Gil Binenbaum; Alasdair Hunter; Uffe B Jensen; Kisha Johnson; Rajiv Kumar; Marie Pierre Lavocat; Laura Martin; Vincent Morinière; David Mowat; Luisa Murer; Hiep T Nguyen; Gabriela Peretz-Amit; Eric Pierce; Emily Place; Nancy Rodig; Ann Salerno; Rémi Salomon; Sujatha Sastry; Tadashi Sato; John A Sayer; Gerard C P Schaafsma; Lisa A Schimmenti; Lawrence Shoemaker; David Wayne Stockton; Wen-Hann Tan; Romano Tenconi; Philippe Vanhille; Abhay Vats; Xinjing Wang; Berta Warman; Richard G Weleber; Susan M White; Carolyn Wilson-Brackett; Dina J Zand; Laurence Heidet
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Human mutation 2012;33(3):457-66.
2012: Eric A Muller; Subhadra Ramanathan; David A Stevenson; David Wayne Stockton; Emma Kivuva; Swaroop Aradhya; Joan F Atkin; Erin P Carmany; Albert E Chudley; Robin D Clark; Alison M Elliott; David B Everman; Shannon Garner; Bryan D Hall; Gail E Herman; Louanne Hudgins
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
American journal of medical genetics. Part A 2012;158A(2):391-9.
2012: Pankaj Prasun; Ajay Agarwal; Swati A Karmarkar; David Wayne Stockton
Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia.
Clinical dysmorphology 2012;21(1):24-6.
2011: Anne M Slavotinek; Jill A Rosenfeld; Ryan Chao; Dimitry Niyazov; Marthand Eswara; Patricia I Bader; David Wayne Stockton; Pawel Stankiewicz; Margaret P Adam
A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
American journal of medical genetics. Part A 2011;155A(5):1196-201.
2011: Wojciech Wiszniewski; Richard Alan Lewis; David Wayne Stockton; Jianlan Peng; Graeme Mardon; Rui Chen; James R Lupski
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
Human genetics 2011;129(3):319-27.
2010: Keith W McLarren; Tesa M Severson; Christèle du Souich; David Wayne Stockton; Lisa Kratz; David Cunningham; Glenda Hendson; Ryan D Morin; Diane Wu; Jessica E Paul; Jianghong An; Tanya N Nelson; Athena Chou; Andrea DeBarber; Louise S Merkens; Jacques L Michaud; Paula J Waters; Jingyi Yin; Barbara McGillivray; Michelle Demos; Guy A Rouleau; Karl-Heinz Grzeschik; Raffaella Smith; Patrick S Tarpey; Debbie Shears; Charles E Schwartz; Jozef Gecz; Michael R Stratton; Laura Arbour; Jane Hurlburt; Margot I Van Allen; Gail E Herman; Yongjun Zhao; Richard Moore; Richard I Kelley; Steven J M Jones; Robert D Steiner; F Lucy Raymond; Marco A Marra; Cornelius F Boerkoel
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
American journal of human genetics 2010;87(6):905-14.
2010: Ruxandra Bachmann-Gagescu; Heather C Mefford; Charles Cowan; Gwen M Glew; Anne V Hing; Stephanie Wallace; Patricia I Bader; Aline Hamati; Pamela J Reitnauer; Rosemarie Smith; David Wayne Stockton; Hiltrud Muhle; Ingo Helbig; Evan E Eichler; Blake C Ballif; Jill Rosenfeld; Karen D Tsuchiya
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(10):641-7.
2010: Beata A Nowakowska; Ewa Obersztyn; Krystyna Szymańska; Monika Bekiesińska-Figatowska; Zhilian Xia; Christian B Ricks; Ewa Bocian; David Wayne Stockton; Krzysztof Szczałuba; Magdalena Nawara; Ankita Patel; Daryl A Scott; Sau Wai Cheung; Timothy P Bohan; Pawel Stankiewicz
Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(5):1042-51.
2007: Ayse K Coskun; Marc van Maanen; David Janka; David Wayne Stockton; Pawel Stankiewicz; Pawel Stankiewicsz; Svetlana A Yatsenko; Richard E Sutton
Isolation and characterization of mouse-human microcell hybrid cell clones permissive for infectious HIV particle release.
Virology 2007;362(2):283-93.
2007: Patrick Tarpey; Trevor Pemberton; David Wayne Stockton; Parimal Das; Vasiliki Ninis; Sarah Edkins; P Andrew Futreal; Richard Wooster; Sushanth Kamath; Rabindra Nayak; Michael R Stratton; Pragna I Patel
A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.
American journal of medical genetics. Part A 2007;143(4):390-4.
2006: Erica R Eichers; Muhammad M Abd-El-Barr; Richard Paylor; Richard Alan Lewis; Weimin Bi; Xiaodi Lin; Thomas P Meehan; David Wayne Stockton; Samuel M Wu; Elizabeth Lindsay; Monica J Justice; Philip L Beales; Nicholas Katsanis; James R Lupski
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
Human genetics 2006;120(2):211-26.
2006: Carla Bidinost; Natalie Hernandez; Deepak P Edward; Ali A Al-Rajhi; Richard Alan Lewis; James R Lupski; David Wayne Stockton; Bassem A Bejjani
Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
Investigative ophthalmology & visual science 2006;47(4):1486-90.
2006: Carla Bidinost; Masayuki Matsumoto; Daniel Chung; Nabiha Salem; Kang Zhang; David Wayne Stockton; Antoine Khoury; André Megarbane; Bassem A Bejjani; Elias Traboulsi
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
Investigative ophthalmology & visual science 2006;47(4):1274-80.
2005: Debra A Thompson; Andreas R Janecke; Jessica Lange; Kecia L Feathers; Christian A Hübner; Christina L McHenry; David Wayne Stockton; Gabriele Rammesmayer; James R Lupski; Guillermo Antinolo; Carmen Ayuso; Montserrat Baiget; Peter Gouras; John R Heckenlively; Anneke I den Hollander; Samuel G Jacobson; Richard A Lewis; Paul Sieving; Bernd Wissinger; Suzanne Yzer; Eberhart Zrenner; Gerd Utermann; Andreas Gal
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Human molecular genetics 2005;14(24):3865-75.
2005: Prisana C Panichkul; Tarek K Al-Hussaini; Rebecca Sierra; Catherine D Kashork; Edwina J Popek; David Wayne Stockton; Ignatia B Van den Veyver
Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis.
Journal of the Society for Gynecologic Investigation 2005;12(5):376-83.
2005: Roberto Mendoza-Londono; Edward Lammer; Rosemarie Watson; John Harper; Atsushi Hatamochi; Saori Hatamochi-Hayashi; Dobrawa Napierala; Pia Hermanns; Sinead Collins; Benjamin B Roa; Madhuri R Hedge; Keiko Wakui; Diep Nguyen; David Wayne Stockton; Brendan Lee
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.
American journal of human genetics 2005;77(1):161-8.
2005: Andrew J Pask; Haruhiko Kanasaki; Ursula B Kaiser; P Michael Conn; Jo Ann Janovick; David Wayne Stockton; David L Hess; Monica J Justice; Richard R Behringer
A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation.
Molecular endocrinology (Baltimore, Md.) 2005;19(4):972-81.
2005: Victor Roland Gordeuk; David Wayne Stockton; Josef T Prchal
Congenital polycythemias/erythrocytoses.
Haematologica 2005;90(1):109-16.
2005: Olga M Mejía; Josef T Prchal; Fabiola León-Velarde; Abdias Hurtado; David Wayne Stockton
Genetic association analysis of chronic mountain sickness in an Andean high-altitude population.
Haematologica 2005;90(1):13-9.
2004: Yong-Hui Jiang; Trilochan Sahoo; Ron C Michaelis; Dani Bercovich; Jan Bressler; Catherine D Kashork; Qian Liu; Lisa Shaffer; Richard J Schroer; David Wayne Stockton; Richard S Spielman; Roger E Stevenson; Arthur L Beaudet
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A.
American journal of medical genetics. Part A 2004;131(1):1-10.
2004: Partha Sen; Nivedita Thakur; David Wayne Stockton; Claire Langston; Bassem A Bejjani
Expanding the phenotype of alveolar capillary dysplasia (ACD).
The Journal of pediatrics 2004;145(5):646-51.
2004: Jianghua Wang; David Wayne Stockton; Michael Ittmann
The fibroblast growth factor receptor-4 Arg388 allele is associated with prostate cancer initiation and progression.
Clinical cancer research : an official journal of the American Association for Cancer Research 2004;10(18 Pt 1):6169-78.
2004: Anneke C Blackburn; S Christine McLary; Rizwan C. Naeem; Jason Luszcz; David Wayne Stockton; Lawrence A Donehower; Mansoor Mohammed; John B Mailhes; Tamar Soferr; Stephen P Naber; Christopher N Otis; D Joseph Jerry
Loss of heterozygosity occurs via mitotic recombination in Trp53+/- mice and associates with mammary tumor susceptibility of the BALB/c strain.
Cancer research 2004;64(15):5140-7.
2004: Enli Liu; Melanie J Percy; Christopher I Amos; Yongli Guan; Sanjay Shete; David Wayne Stockton; Mary Frances McMullin; Lydia A Polyakova; Sonny O Ang; Yves D Pastore; Katerina Jedlickova; Terence R J Lappin; Victor Roland Gordeuk; Josef T Prchal
The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.
Blood 2004;103(5):1937-40.
2003: Robert Kralovics; David Wayne Stockton; Josef T Prchal
Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease.
Blood 2003;102(10):3793-6.
2003: Katerina Jedlickova; David Wayne Stockton; Josef T Prchal
Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2.
Blood cells, molecules & diseases 2003;31(3):327-31.
2003: Benjamin T Kile; Kathryn E Hentges; Amander T Clark; Hisashi Nakamura; Andrew P Salinger; Bin Liu; Neil Box; David Wayne Stockton; Randy L Johnson; Richard R Behringer; Allan Bradley; Monica J Justice
Functional genetic analysis of mouse chromosome 11.
Nature 2003;425(6953):81-6.
2003: Katerina Jedlickova; David Wayne Stockton; Hua Chen; James Stray-Gundersen; Sarah Witkowski; Ge Ri-Li; Jaroslav Jelinek; Benjamin D Levine; Josef T Prchal
Search for genetic determinants of individual variability of the erythropoietin response to high altitude.
Blood cells, molecules & diseases 2003;31(2):175-82.
2003: Seema R Lalani; David Wayne Stockton; Carlos A Bacino; Laura M Molinari; Nancy L Glass; Susan D Fernbach; Jeffrey A Towbin; William J Craigen; John M Graham; Margaret A Hefner; Angela E Lin; Kim McBride; Sandra L H Davenport; John W Belmont
Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
American journal of medical genetics. Part A 2003;118A(3):260-6.
2002: Sonny O Ang; Hua Chen; Kiichi Hirota; Victor Roland Gordeuk; Jaroslav Jelinek; Yongli Guan; Enli Liu; Adelina I Sergueeva; Galina Y Miasnikova; David Mole; Patrick H Maxwell; David Wayne Stockton; Gregg L Semenza; Josef T Prchal
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
Nature genetics 2002;32(4):614-21.
2002: Hiroshi Takashima; Cornelius F Boerkoel; Joy John; Gulam Mustafa Saifi; Mustafa A Salih; Dawna Armstrong; Yuxin Mao; Florante A Quiocho; Benjamin B Roa; Masanori Nakagawa; David Wayne Stockton; James R Lupski
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
Nature genetics 2002;32(2):267-72.
2002: Parimal Das; David Wayne Stockton; Christopher Bauer; Lisa Shaffer; Rena N D'Souza; TimothyJ Wright; Pragna I Patel
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.
Human genetics 2002;110(4):371-6.
2002: Erica R Eichers; Jane S Green; David Wayne Stockton; Christopher S Jackman; James Whelan; J Arch McNamara; Gordon J Johnson; James R Lupski; Nicholas Katsanis
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
American journal of human genetics 2002;70(4):955-64.
2002: Cornelius F Boerkoel; Hiroshi Takashima; Joy John; Jiong Yan; Pawel Stankiewicz; Lisa Rosenbarker; Jean-Luc André; Radovan Bogdanovic; Antoine Burguet; Sandra Cockfield; Isabel Cordeiro; Stefan Fründ; Friederike Illies; Mark Joseph; Ilkka Kaitila; Giuliana Lama; Chantal Loirat; D Ross McLeod; David V Milford; Elizabeth Petty; Francisco Rodrigo; Jorge M Saraiva; Beate Schmidt; Graham C Smith; Jürgen Spranger; Anja Stein; Hannelore Thiele; Jane Tizard; Rosanna Weksberg; James R Lupski; David Wayne Stockton
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Nature genetics 2002;30(2):215-20.
2002: Sonny O Ang; Hua Chen; Victor Roland Gordeuk; Adelina I Sergueeva; Lydia A Polyakova; Galina Y Miasnikova; Robert Kralovics; David Wayne Stockton; Josef T Prchal
Endemic polycythemia in Russia: mutation in the VHL gene.
Blood cells, molecules & diseases 2002;28(1):57-62.
2001: David Wayne Stockton; Ricardo Meade; David T Netscher; M J Epstein; Saleh M Shenaq; Lisa Shaffer; James R Lupski
Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.
Archives of neurology 2001;58(10):1635-7.
2001: E Lev-Lehman; Dani Bercovich; Weidong Xu; David Wayne Stockton; Arthur L Beaudet
Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.
Journal of human genetics 2001;46(7):362-6.
2000: Carlos A Bacino; David Wayne Stockton; Rebecca Sierra; Heidi A Heilstedt; R Lewandowski; Ignatia B Van den Veyver
Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.
American journal of medical genetics 2000;94(2):102-12.
2000: M Goldenberg; P Das; M Messersmith; David Wayne Stockton; Pragna I Patel; Rena N D'Souza
Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia.
Journal of dental research 2000;79(7):1469-75.
2000: W Zhang; Ruthie E Amir; David Wayne Stockton; Ignatia B Van den Veyver; Carlos A Bacino; Huda Y Zoghbi
Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.
American journal of human genetics 2000;66(4):1461-4.
2000: Bassem A Bejjani; David Wayne Stockton; R A Lewis; K F Tomey; D K Dueker; MH Jabak; W F Astle; James R Lupski
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Human molecular genetics 2000;9(3):367-74.
2000: David Wayne Stockton; Parimal Das; M Goldenberg; Rena N D'Souza; Pragna I Patel
Mutation of PAX9 is associated with oligodontia.
Nature genetics 2000;24(1):18-9.
1999: Nicholas Katsanis; R A Lewis; David Wayne Stockton; P M Mai; Lisa Baird; Philip L Beales; Mark Leppert; James R Lupski
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
American journal of human genetics 1999;65(6):1672-9.
1998: David Wayne Stockton; R A Lewis; E B Abboud; Ali A Al-Rajhi; MH Jabak; K L Anderson; James R Lupski
A novel locus for Leber congenital amaurosis on chromosome 14q24.
Human genetics 1998;103(3):328-33.
1998: R N de Silva; David Wayne Stockton; Bronya J B Keats; C M Justice; Carolyn S (Sue) Richards; T Ashizawa
Delayed diagnosis of Friedreich's ataxia due to coexisting recessive deaf/blind syndrome.
Neurology 1998;50(6):1924-5.
1997: David Wayne Stockton; HL Ross; Carlos A Bacino; Carolyn A Altman; Lisa Shaffer; James R Lupski
Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
American journal of medical genetics 1997;71(2):189-93.
1997: Olga Zhuchenko; J Bailey; Penelope E Bonnen; Tetsuo Ashizawa; David Wayne Stockton; Christopher I Amos; William B Dobyns; S H Subramony; Huda Y Zoghbi; Cheng Chi Lee
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Nature genetics 1997;15(1):62-9.