Publications by authors named "Angela Pickart"

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Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy.
Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti, William Laxen, Perry R Loken, Angela Pickart

Neurology· December 2025

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Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing.
Qiliang Ding, Jagadheshwar Balan, Noemi Vidal-Folch, Angela M Pickart, Guangchao Sun

Genet Med· October 2025

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Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.
Angela M Pickart, Ann S Martin, Brianna N Gross, Lisa M Dellefave-Castillo, Leslie M McCallen

J Genet Couns· February 2025

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
Melissa S DeRycke, Shanaka Gunawardena, Jessica R Balcom, Angela M Pickart, Lindsey A Waltman

Mol Genet Genomic Med· September 2017

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Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
Bianca Russell, Jennifer J Johnston, Leslie G Biesecker, Nancy Kramer, Angela Pickart

Am J Med Genet A· September 2015

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Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Marjolijn Renard, Tammy Holm, Regan Veith, Bert L Callewaert, Lesley C Adès, Angela Pickart

Eur J Hum Genet· August 2010

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DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
Kevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, Michael T Howard, Jerry Mendell, Angela Pickart

Neuromuscul Disord· November 2009

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A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature.
Pavandeep Ghataorhe, Allison W Kurian, Angela Pickart, Pamela Trapane, Jeffrey A Norton

Cancer Genet Cytogenet· December 2007

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