William K Seltzer
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Explore the profile of William K Seltzer including associated specialties, affiliations and a list of published articles.
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9
Citations
445
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Recent Articles
1.
Pertile M, Halks-Miller M, Flowers N, Barbacioru C, Kinnings S, Vavrek D, et al.
Sci Transl Med
. 2017 Sep;
9(405).
PMID: 28855395
Whole-genome sequencing (WGS) of maternal plasma cell-free DNA (cfDNA) can potentially evaluate all 24 chromosomes to identify abnormalities of the placenta, fetus, or pregnant woman. Current bioinformatics algorithms typically only...
2.
Lazarin G, Haque I, Nazareth S, Iori K, Scott Patterson A, Jacobson J, et al.
Genet Med
. 2012 Sep;
15(3):178-86.
PMID: 22975760
Purpose: Recent developments in genomics have led to expanded carrier screening panels capable of assessing hundreds of causal mutations for genetic disease. This new technology enables simultaneous measurement of carrier...
3.
Putcha G, Bejjani B, Bleoo S, Booker J, Carey J, Carson N, et al.
Genet Med
. 2007 Aug;
9(7):413-26.
PMID: 17666888
Purpose: The aim of the study was to determine the actual GJB2 and GJB6 mutation frequencies in North America after several years of generalized testing for autosomal recessive nonsyndromic sensorineural...
4.
Reddy P, Seltzer W, Grewal R
Can J Neurol Sci
. 2007 Jun;
34(2):208-10.
PMID: 17598599
Objective: We report a multigenerational family with uncomplicated hereditary spastic paraplegia type 4 and apparent anticipation. Genetic analysis of the proband revealed a frame shift mutation (5 base pair deletion)...
5.
Garcia-Gonzalez M, Jones J, Allen S, Palatucci C, Batish S, Seltzer W, et al.
Mol Genet Metab
. 2007 Jun;
92(1-2):160-7.
PMID: 17574468
Autosomal dominant polycystic kidney disease (ADPKD) is estimated to affect 1/600-1/1000 individuals worldwide. The disease is characterized by age dependent renal cyst formation that results in kidney failure during adulthood....
6.
Harkin L, McMahon J, Iona X, Dibbens L, Pelekanos J, Zuberi S, et al.
Brain
. 2007 Mar;
130(Pt 3):843-52.
PMID: 17347258
The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is...
7.
Margolis R, Holmes S, Rosenblatt A, Gourley L, OHearn E, Ross C, et al.
Ann Neurol
. 2004 Oct;
56(5):670-4.
PMID: 15468075
Huntington's Disease-like 2 (HDL2) is a progressive, autosomal dominant, neurodegenerative disorder with marked clinical and pathological similarities to Huntington's disease (HD). The causal mutation is a CTG/CAG expansion mutation on...
8.
Ikeda Y, Dalton J, Moseley M, Gardner K, Bird T, Ashizawa T, et al.
Am J Hum Genet
. 2004 May;
75(1):3-16.
PMID: 15152344
We reported elsewhere that an untranslated CTG expansion causes the dominantly inherited neurodegenerative disorder spinocerebellar ataxia type 8 (SCA8). SCA8 shows a complex inheritance pattern with extremes of incomplete penetrance,...
9.
Payami H, Nutt J, Gancher S, Bird T, McNeal M, Seltzer W, et al.
Mov Disord
. 2003 Apr;
18(4):425-9.
PMID: 12671950
Some kindreds with familial parkinsonism exhibit genetic anticipation, suggesting possible involvement of trinucleotide repeat expansion. Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in...