Stockton, David
M.D.
Professor
More about David Stockton
Publications & Presentations
Duong T, Kishnani PS, An Haack K, Foster MC, Gibson JB, Wilson C, Hahn SH, Hillman R, Kronn D, Leslie ND, Peña LDM, Sparks SE, Stockton DW, Tanpaiboon P, Day JW, Pompe ADVANCE Study Consortium (2022). Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort. Journal of neuromuscular diseases.
Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, An Haack K, Stockton DW, Peña LDM, Hahn SH, Johnson J, Tanpaiboon PX, Leslie ND, Kronn D, Hillman RE, Wang RY, Pompe ADVANCE Study Consortium (2022). Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Cardiology in the young.
Hutchins K, Rajpurkar M, Stockton DW, Callaghan MU (2021). Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion. Haemophilia : the official journal of the World Federation of Hemophilia.
Kaur S, Campbell SL, Stockton DW (2021). Management of COVID-19 infection in organic acidemias. American journal of medical genetics. Part A.
Sen K, Kaur S, Stockton DW, Nyhuis M, Roberson J (2021). Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy. AJP reports.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA (2020). Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Human molecular genetics.
Gordeuk VR, Miasnikova GY, Sergueeva AI, Lorenzo FR, Zhang X, Song J, Stockton DW, Prchal JT (2020). Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit. Haematologica.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM (2020). Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Human mutation.
Stockton DW, Kishnani P, van der Ploeg A, Llerena J Jr, Boentert M, Roberts M, Byrne BJ, Araujo R, Maruti SS, Thibault N, Verhulst K, Berger KI (2020). Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start. Journal of neurology.
Kishnani PS, Gibson JB, Gambello MJ, Hillman R, Stockton DW, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Day JW, Wang RY, Goldstein JL, An Haack K, Sparks SE, Zhao Y, Hahn SH, Pompe ADVANCE Study Consortium (2019). Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Genetics in medicine : official journal of the American College of Medical Genetics.
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM (2018). Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. American journal of human genetics.
Prasun P, Madan R, Puthuraya S, Subramanian D, Datta I, Kalra V, Thomas R, Stockton DW, Sundaram S, Callaghan J, Callaghan M, Chouthai N (2018). Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns? Developmental neuroscience.
Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS, Pompe ADVANCE Study Consortium (2018). Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. Genetics in medicine : official journal of the American College of Medical Genetics.
Clarke LA, Atherton AM, Burton BK, Day-Salvatore DL, Kaplan P, Leslie ND, Scott CR, Stockton DW, Thomas JA, Muenzer J (2017). Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management. The Journal of pediatrics.
Kazi ZB, Prater SN, Kobori JA, Viskochil D, Bailey C, Gera R, Stockton DW, McIntosh P, Rosenberg AS, Kishnani PS (2016). Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses. JCI insight.
Tan QK, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LD, Deimling MA, Freemark MS, Kishnani PS (2015). Premature pubarche in children with Pompe disease. The Journal of pediatrics.
Chien YH, van der Ploeg A, Jones S, Byrne B, Vellodi A, Leslie N, Mengel E, Shankar SP, Tanpaiboon P, Stockton DW, Hennermann JB, Devecseri Z, Kempf J, Keutzer J, Kishnani P (2015). Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy. Journal of neuromuscular diseases.
Agarwal R, Feldman GL, Poulik J, Stockton DW, Sood BG (2014). Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn. Journal of neonatal-perinatal medicine.
Beck TF, Shchelochkov OA, Yu Z, Kim BJ, Hernández-García A, Zaveri HP, Bishop C, Overbeek PA, Stockton DW, Justice MJ, Scott DA (2013). Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3. PloS one.
Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernández-García A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA (2013). An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions. PloS one.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA (2013). Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Human molecular genetics.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE (2012). Phenotypic heterogeneity of genomic disorders and rare copy-number variants. The New England journal of medicine.
Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L (2012). Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Human mutation.
Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L (2012). Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. American journal of medical genetics. Part A.
Prasun P, Stockton DW (2012). Fatal acute encephalopathy in two siblings: a distinct hereditary entity? Journal of the neurological sciences.
Slavotinek AM, Rosenfeld JA, Chao R, Niyazov D, Eswara M, Bader PI, Stockton DW, Stankiewicz P, Adam MP (2011). 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.
Wiszniewski W, Lewis RA, Stockton DW, Peng J, Mardon G, Chen R, Lupski JR (2011). Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Human genetics.
Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD (2010). 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.
Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P (2010). 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.
McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF (2010). Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American journal of human genetics.
Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Andrew Futreal P, Wooster R, Kamath S, Nayak R, Stratton MR, Patel PI (2007). A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. American journal of medical genetics. Part A.
Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI (2006). Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. Investigative ophthalmology & visual science.
Bidinost C, Hernandez N, Edward DP, Al-Rajhi A, Lewis RA, Lupski JR, Stockton DW, Bejjani BA (2006). Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans. Investigative ophthalmology & visual science.
Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR (2006). Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Human genetics.
Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A (2005). Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Human molecular genetics.
Panichkul PC, Al-Hussaini TK, Sierra R, Kashork CD, Popek EJ, Stockton DW, Van den Veyver IB (2005). 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.
Gordeuk VR, Stockton DW, Prchal JT (2005). Congenital polycythemias/erythrocytoses. Haematologica.
Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B (2005). Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. American journal of human genetics.
Mejía OM, Prchal JT, León-Velarde F, Hurtado A, Stockton DW (2005). Genetic association analysis of chronic mountain sickness in an Andean high-altitude population. Haematologica.
Pask AJ, Kanasaki H, Kaiser UB, Conn PM, Janovick JA, Stockton DW, Hess DL, Justice MJ, Behringer RR (2005). A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation. Molecular endocrinology (Baltimore, Md.).
Jiang YH, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL (2004). A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. American journal of medical genetics. Part A.
Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA (2004). Expanding the phenotype of alveolar capillary dysplasia (ACD). The Journal of pediatrics.
Blackburn AC, McLary SC, Naeem R, Luszcz J, Stockton DW, Donehower LA, Mohammed M, Mailhes JB, Soferr T, Naber SP, Otis CN, Jerry DJ (2004). Loss of heterozygosity occurs via mitotic recombination in Trp53+/- mice and associates with mammary tumor susceptibility of the BALB/c strain. Cancer research.
Liu E, Percy MJ, Amos CI, Guan Y, Shete S, Stockton DW, McMullin MF, Polyakova LA, Ang SO, Pastore YD, Jedlickova K, Lappin TR, Gordeuk V, Prchal JT (2004). The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. Blood.
Wang J, Stockton DW, Ittmann M (2004). 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.
Kile BT, Hentges KE, Clark AT, Nakamura H, Salinger AP, Liu B, Box N, Stockton DW, Johnson RL, Behringer RR, Bradley A, Justice MJ (2003). Functional genetic analysis of mouse chromosome 11. Nature.
Kralovics R, Stockton DW, Prchal JT (2003). Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood.
Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM Jr, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW (2003). Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. American journal of medical genetics. Part A.
Jedlickova K, Stockton DW, Chen H, Stray-Gundersen J, Witkowski S, Ri-Li G, Jelinek J, Levine BD, Prchal JT (2003). Search for genetic determinants of individual variability of the erythropoietin response to high altitude. Blood cells, molecules & diseases.
Jedlickova K, Stockton DW, Prchal JT (2003). Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. Blood cells, molecules & diseases.
Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR (2002). Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nature genetics.
Ang SO, Chen H, Gordeuk VR, Sergueeva AI, Polyakova LA, Miasnikova GY, Kralovics R, Stockton DW, Prchal JT (2002). Endemic polycythemia in Russia: mutation in the VHL gene. Blood cells, molecules & diseases.
Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT (2002). Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nature genetics.
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N (2002). Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. American journal of human genetics.
Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW (2002). Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nature genetics.
Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI (2002). Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Human genetics.
Lev-Lehman E, Bercovich D, Xu W, Stockton DW, Beaudet AL (2001). Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4. Journal of human genetics.
Stockton DW, Meade RA, Netscher DT, Epstein MJ, Shenaq SM, Shaffer LG, Lupski JR (2001). Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome. Archives of neurology.
Bacino CA, Stockton DW, Sierra RA, Heilstedt HA, Lewandowski R, Van den Veyver IB (2000). Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. American journal of medical genetics.
Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HY (2000). Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. American journal of human genetics.
Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR (2000). 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.
Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI (2000). Mutation of PAX9 is associated with oligodontia. Nature genetics.
Goldenberg M, Das P, Messersmith M, Stockton DW, Patel PI, D'Souza RN (2000). Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia. Journal of dental research.
Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR (1999). 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.
de Silva RN, Stockton DW, Keats B, Justice CM, Richards CS, Ashizawa T (1998). Delayed diagnosis of Friedreich's ataxia due to coexisting recessive deaf/blind syndrome. Neurology.
Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR (1998). A novel locus for Leber congenital amaurosis on chromosome 14q24. Human genetics.
Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR (1997). Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review. American journal of medical genetics.
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997). Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nature genetics.
Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, An Haack K, Stockton DW, Peña LDM, Hahn SH, Johnson J, Tanpaiboon PX, Leslie ND, Kronn D, Hillman RE, Wang RY, Pompe ADVANCE Study Consortium (2022). Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort. Cardiology in the young.
Hutchins K, Rajpurkar M, Stockton DW, Callaghan MU (2021). Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion. Haemophilia : the official journal of the World Federation of Hemophilia.
Kaur S, Campbell SL, Stockton DW (2021). Management of COVID-19 infection in organic acidemias. American journal of medical genetics. Part A.
Sen K, Kaur S, Stockton DW, Nyhuis M, Roberson J (2021). Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy. AJP reports.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA (2020). Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Human molecular genetics.
Gordeuk VR, Miasnikova GY, Sergueeva AI, Lorenzo FR, Zhang X, Song J, Stockton DW, Prchal JT (2020). Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit. Haematologica.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM (2020). Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Human mutation.
Stockton DW, Kishnani P, van der Ploeg A, Llerena J Jr, Boentert M, Roberts M, Byrne BJ, Araujo R, Maruti SS, Thibault N, Verhulst K, Berger KI (2020). Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start. Journal of neurology.
Kishnani PS, Gibson JB, Gambello MJ, Hillman R, Stockton DW, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Day JW, Wang RY, Goldstein JL, An Haack K, Sparks SE, Zhao Y, Hahn SH, Pompe ADVANCE Study Consortium (2019). Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Genetics in medicine : official journal of the American College of Medical Genetics.
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM (2018). Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. American journal of human genetics.
Prasun P, Madan R, Puthuraya S, Subramanian D, Datta I, Kalra V, Thomas R, Stockton DW, Sundaram S, Callaghan J, Callaghan M, Chouthai N (2018). Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns? Developmental neuroscience.
Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS, Pompe ADVANCE Study Consortium (2018). Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. Genetics in medicine : official journal of the American College of Medical Genetics.
Clarke LA, Atherton AM, Burton BK, Day-Salvatore DL, Kaplan P, Leslie ND, Scott CR, Stockton DW, Thomas JA, Muenzer J (2017). Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management. The Journal of pediatrics.
Kazi ZB, Prater SN, Kobori JA, Viskochil D, Bailey C, Gera R, Stockton DW, McIntosh P, Rosenberg AS, Kishnani PS (2016). Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses. JCI insight.
Tan QK, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LD, Deimling MA, Freemark MS, Kishnani PS (2015). Premature pubarche in children with Pompe disease. The Journal of pediatrics.
Chien YH, van der Ploeg A, Jones S, Byrne B, Vellodi A, Leslie N, Mengel E, Shankar SP, Tanpaiboon P, Stockton DW, Hennermann JB, Devecseri Z, Kempf J, Keutzer J, Kishnani P (2015). Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy. Journal of neuromuscular diseases.
Agarwal R, Feldman GL, Poulik J, Stockton DW, Sood BG (2014). Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn. Journal of neonatal-perinatal medicine.
Beck TF, Shchelochkov OA, Yu Z, Kim BJ, Hernández-García A, Zaveri HP, Bishop C, Overbeek PA, Stockton DW, Justice MJ, Scott DA (2013). Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3. PloS one.
Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernández-García A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA (2013). An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions. PloS one.
Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA (2013). Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Human molecular genetics.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE (2012). Phenotypic heterogeneity of genomic disorders and rare copy-number variants. The New England journal of medicine.
Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L (2012). Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Human mutation.
Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L (2012). Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. American journal of medical genetics. Part A.
Prasun P, Stockton DW (2012). Fatal acute encephalopathy in two siblings: a distinct hereditary entity? Journal of the neurological sciences.
Slavotinek AM, Rosenfeld JA, Chao R, Niyazov D, Eswara M, Bader PI, Stockton DW, Stankiewicz P, Adam MP (2011). 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.
Wiszniewski W, Lewis RA, Stockton DW, Peng J, Mardon G, Chen R, Lupski JR (2011). Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Human genetics.
Bachmann-Gagescu R, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, Tsuchiya KD (2010). 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.
Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P (2010). 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.
McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF (2010). Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American journal of human genetics.
Tarpey P, Pemberton TJ, Stockton DW, Das P, Ninis V, Edkins S, Andrew Futreal P, Wooster R, Kamath S, Nayak R, Stratton MR, Patel PI (2007). A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. American journal of medical genetics. Part A.
Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI (2006). Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. Investigative ophthalmology & visual science.
Bidinost C, Hernandez N, Edward DP, Al-Rajhi A, Lewis RA, Lupski JR, Stockton DW, Bejjani BA (2006). Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans. Investigative ophthalmology & visual science.
Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR (2006). Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Human genetics.
Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A (2005). Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Human molecular genetics.
Panichkul PC, Al-Hussaini TK, Sierra R, Kashork CD, Popek EJ, Stockton DW, Van den Veyver IB (2005). 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.
Gordeuk VR, Stockton DW, Prchal JT (2005). Congenital polycythemias/erythrocytoses. Haematologica.
Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B (2005). Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. American journal of human genetics.
Mejía OM, Prchal JT, León-Velarde F, Hurtado A, Stockton DW (2005). Genetic association analysis of chronic mountain sickness in an Andean high-altitude population. Haematologica.
Pask AJ, Kanasaki H, Kaiser UB, Conn PM, Janovick JA, Stockton DW, Hess DL, Justice MJ, Behringer RR (2005). A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation. Molecular endocrinology (Baltimore, Md.).
Jiang YH, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL (2004). A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. American journal of medical genetics. Part A.
Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA (2004). Expanding the phenotype of alveolar capillary dysplasia (ACD). The Journal of pediatrics.
Blackburn AC, McLary SC, Naeem R, Luszcz J, Stockton DW, Donehower LA, Mohammed M, Mailhes JB, Soferr T, Naber SP, Otis CN, Jerry DJ (2004). Loss of heterozygosity occurs via mitotic recombination in Trp53+/- mice and associates with mammary tumor susceptibility of the BALB/c strain. Cancer research.
Liu E, Percy MJ, Amos CI, Guan Y, Shete S, Stockton DW, McMullin MF, Polyakova LA, Ang SO, Pastore YD, Jedlickova K, Lappin TR, Gordeuk V, Prchal JT (2004). The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. Blood.
Wang J, Stockton DW, Ittmann M (2004). 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.
Kile BT, Hentges KE, Clark AT, Nakamura H, Salinger AP, Liu B, Box N, Stockton DW, Johnson RL, Behringer RR, Bradley A, Justice MJ (2003). Functional genetic analysis of mouse chromosome 11. Nature.
Kralovics R, Stockton DW, Prchal JT (2003). Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood.
Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM Jr, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW (2003). Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. American journal of medical genetics. Part A.
Jedlickova K, Stockton DW, Chen H, Stray-Gundersen J, Witkowski S, Ri-Li G, Jelinek J, Levine BD, Prchal JT (2003). Search for genetic determinants of individual variability of the erythropoietin response to high altitude. Blood cells, molecules & diseases.
Jedlickova K, Stockton DW, Prchal JT (2003). Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2. Blood cells, molecules & diseases.
Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR (2002). Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nature genetics.
Ang SO, Chen H, Gordeuk VR, Sergueeva AI, Polyakova LA, Miasnikova GY, Kralovics R, Stockton DW, Prchal JT (2002). Endemic polycythemia in Russia: mutation in the VHL gene. Blood cells, molecules & diseases.
Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y, Liu E, Sergueeva AI, Miasnikova GY, Mole D, Maxwell PH, Stockton DW, Semenza GL, Prchal JT (2002). Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nature genetics.
Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N (2002). Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. American journal of human genetics.
Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW (2002). Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nature genetics.
Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI (2002). Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Human genetics.
Lev-Lehman E, Bercovich D, Xu W, Stockton DW, Beaudet AL (2001). Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4. Journal of human genetics.
Stockton DW, Meade RA, Netscher DT, Epstein MJ, Shenaq SM, Shaffer LG, Lupski JR (2001). Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome. Archives of neurology.
Bacino CA, Stockton DW, Sierra RA, Heilstedt HA, Lewandowski R, Van den Veyver IB (2000). Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. American journal of medical genetics.
Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HY (2000). Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. American journal of human genetics.
Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR (2000). 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.
Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI (2000). Mutation of PAX9 is associated with oligodontia. Nature genetics.
Goldenberg M, Das P, Messersmith M, Stockton DW, Patel PI, D'Souza RN (2000). Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia. Journal of dental research.
Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR (1999). 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.
de Silva RN, Stockton DW, Keats B, Justice CM, Richards CS, Ashizawa T (1998). Delayed diagnosis of Friedreich's ataxia due to coexisting recessive deaf/blind syndrome. Neurology.
Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR (1998). A novel locus for Leber congenital amaurosis on chromosome 14q24. Human genetics.
Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR (1997). Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review. American journal of medical genetics.
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997). Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nature genetics.
Education
M.D., University of Michigan Medical School
B.S., University of Michigan-Ann Arbor
M.S., Florida Institute of Technology
B.S., University of Michigan-Ann Arbor
M.S., Florida Institute of Technology