D. Stockton

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation

J. Rosenfeld, P. Stankiewicz, D. Stockton, 2011, American journal of medical genetics. Part A.

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort

D. Stockton, N. Leslie, P. Tanpaiboon, 2022, Journal of neuromuscular diseases.

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

D. Stockton, M. Gambello, N. Leslie, 2019, Genetics in Medicine.

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

D. Stockton, J. Roberson, Kuntal Sen, 2021, AJP reports.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.

P. Patel, M. Justice, D. Tibboel, 2013, Human molecular genetics.

Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.

L. Shaffer, J. Lupski, D. Stockton, 2001, Archives of neurology.

Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.

H. Zoghbi, D. Stockton, C. Bacino, 2000, American journal of human genetics.

A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation.

M. Justice, R. Behringer, D. Stockton, 2005, Molecular endocrinology.

Management of COVID‐19 infection in organic acidemias

D. Stockton, Stephanie Campbell, Shagun Kaur, 2021, American journal of medical genetics. Part A.

Clinical, Radiographic, and Genetic Evaluation of a Novel Form of Autosomal-dominant Oligodontia

P. Patel, D. Stockton, P. Das, 2000, Journal of dental research.

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

L. Shaffer, P. Patel, D. Stockton, 2002, Human Genetics.

Mutation of PAX9 is associated with oligodontia

P. Patel, D. Stockton, P. Das, 2000, Nature Genetics.

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

J. Lupski, P. Gouras, P. Sieving, 2005, Human molecular genetics.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

Steven J. M. Jones, Ryan D. Morin, Richard A. Moore, 2010, American journal of human genetics.

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

J. Lupski, B. Bejjani, D. Stockton, 2000, Human molecular genetics.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

J. Rosenfeld, H. Mefford, E. Eichler, 2010, Genetics in Medicine.

Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

D. Stockton, Brendan H. Lee, R. Mendoza-Londono, 2005, American journal of human genetics.

Functional genetic analysis of mouse chromosome 11

Bin Liu, Allan Bradley, Hisashi Nakamura, 2003, Nature.

Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease.

D. Stockton, R. Kralovics, J. Prchal, 2003, Blood.

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.

L. Shaffer, J. Lupski, D. Stockton, 1997, American journal of medical genetics.

Recurrent Biparental Hydatidiform Mole: Additional Evidence for a 1.1-Mb Locus in 19q13.4 and Candidate Gene Analysis

C. Kashork, D. Stockton, I. B. Van den Veyver, 2005, The Journal of the Society for Gynecologic Investigation: JSGI.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

L. Hudgins, S. Aradhya, D. Stockton, 2012, American journal of medical genetics. Part A.

A novel locus for Leber congenital amaurosis on chromosome 14q24

J. Lupski, R. Lewis, D. Stockton, 1998, Human Genetics.

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.

J. Lupski, M. Leppert, N. Katsanis, 1999, American journal of human genetics.

Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.

D. Stockton, C. Bacino, I. B. Van den Veyver, 2000, American journal of medical genetics.

Deficiency of FRAS 1-related extracellular matrix 1 ( FREM 1 ) causes congenital diaphragmatic hernia in humans and mice

P. Patel, M. Justice, D. Tibboel, 2013 .

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

M. Justice, D. Stockton, Brendan H. Lee, 2013, PloS one.

Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.

J. Lupski, R. Lewis, B. Bejjani, 2006, Investigative ophthalmology & visual science.

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

J. Lupski, M. Justice, S. Wu, 2006, Human Genetics.

The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.

S. Shete, C. Amos, D. Stockton, 2004, Blood.

Search for genetic determinants of individual variability of the erythropoietin response to high altitude.

B. Levine, J. Jelinek, D. Stockton, 2003, Blood cells, molecules & diseases.

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis

J. Lupski, G. Mardon, R. Lewis, 2011, Human Genetics.

Host sanctions and the legume – rhizobium mutualism

Kathryn E. Hentges, M. Justice, A. Bradley, 2014 .

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

David Mole, Kiichi Hirota, Enli Liu, 2002, Nature Genetics.

Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns?

D. Stockton, S. Sundaram, V. Kalra, 2018, Developmental Neuroscience.

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database

Marni J. Falk, Gerard C. P. Schaafsma, R. Kumar, 2012, Human mutation.

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.

B. Byrne, Y. Chien, D. Stockton, 2014, Journal of neuromuscular diseases.

Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion

D. Stockton, M. Callaghan, M. Rajpurkar, 2017, Haemophilia : the official journal of the World Federation of Hemophilia.

D. Stockton, M. Gambello, N. Leslie, 2018, Genetics in Medicine.

The Fibroblast Growth Factor Receptor-4 Arg 388 Allele Is Associated with Prostate Cancer Initiation and Progression

M. Ittmann, Jianghuai Wang, D. Stockton, 2004 .

C. Bishop, M. Justice, D. Stockton, 2013, PloS one.

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.

B. Bejjani, A. Mégarbané, D. Stockton, 2006, Investigative ophthalmology & visual science.

Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn.

D. Stockton, B. Sood, G. Feldman, 2014, Journal of neonatal-perinatal medicine.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Bradley P. Coe, Donna M. Martin, J. Rosenfeld, 2012, The New England journal of medicine.

Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses.

D. Stockton, D. Viskochil, A. Rosenberg, 2016, JCI insight.

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

P. Kaplan, D. Stockton, B. Burton, 2017, The Journal of pediatrics.

Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia.

D. Stockton, P. Prasun, A. Agarwal, 2012, Clinical dysmorphology.