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Stephen Braddock

Explore the profile of Stephen Braddock including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 8
Citations 453
Followers 0
Related Specialties
Genetics
Science
General Medicine
Top 10 Co-Authors
Ruthellen H Anderson
Cynthia Curry
Megan Landsverk
David A Sturdevant
Keegan Mechels
Tyler B Johnson
Erin Torti
Hailey Pinz
Kyle J Roux
Mark A Wilson
Published In
Sci Rep
Am J Med Genet A
J Med Genet
Am J Hum Genet
Cytogenet Genome Res
Affiliations
Soon will be listed here.
Recent Articles
1.
Author Correction: Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1
Johnson T, Mechels K, Anderson R, Cain J, Sturdevant D, Braddock S, et al.
Sci Rep . 2020 Apr; 10(1):6635. PMID: 32296074
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
2.
Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1
Johnson T, Mechels K, Anderson R, Cain J, Sturdevant D, Braddock S, et al.
Sci Rep . 2018 Nov; 8(1):16161. PMID: 30385778
Haploinsufficiency of Forkhead box protein P1 (FOXP1), a highly conserved transcription factor, leads to developmental delay, intellectual disability, autism spectrum disorder, speech delay, and dysmorphic features. Most of the reported...
3.
-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Mirzaa G, Timms A, Conti V, Boyle E, Girisha K, Martin B, et al.
JCI Insight . 2016 Sep; 1(9). PMID: 27631024
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of have been associated with the widest spectrum of phenotypes associated...
4.
Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-arm translocation
Pota P, Grammatopoulou V, Torti E, Braddock S, Batanian J
Cytogenet Genome Res . 2015 Jan; 144(4):280-4. PMID: 25632983
Constitutional chromosome instability so far has mainly been associated with ring formation. In addition, isochromosome formation involving the short arm with translocation of the entire long arm is rarely observed....
5.
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Solomon B, Bear K, Wyllie A, Keaton A, Dubourg C, David V, et al.
J Med Genet . 2012 Jul; 49(7):473-9. PMID: 22791840
Background: Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in...
6.
Knowledge and attitudes about fetal alcohol syndrome, fetal alcohol spectrum disorders, and alcohol use during pregnancy by occupational therapists in the Midwest
Rudeen P, Cook K, Mengel M, Ulione M, Wedding D, Braddock S, et al.
J Allied Health . 2009 Sep; 36(3):e203-20. PMID: 19759993
Fetal Alcohol Syndrome (FAS) occurs in approximately 3 of 1,000 live births in the general population of the U.S. and is the leading known cause of mental retardation. The Midwest...
7.
Disruption of neurexin 1 associated with autism spectrum disorder
Kim H, Kishikawa S, Higgins A, Seong I, Donovan D, Shen Y, et al.
Am J Hum Genet . 2008 Jan; 82(1):199-207. PMID: 18179900
Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role. We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display...
8.
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B
Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kaariainen H, Cass D, et al.
Am J Med Genet A . 2003 Jun; 119A(3):257-65. PMID: 12784289
Mutations or deletions involving ZFHX1B (previously SIP1) have recently been found to cause one form of syndromic Hirschsprung disease (HSCR), associated with microcephaly, mental retardation, and distinctive facial features. Patients...