Carolyn A. Erdman

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

Donna M. Werling, Harrison Brand, Joon‐Yong An, Matthew R. Stone et autres

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Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

Donna M. Werling, Harrison Brand, Joon‐Yong An, Matthew R. Stone et autres

Summary Genomic studies to date in autism spectrum disorder (ASD) have largely focused on newly arising mutations that disrupt protein coding sequence and strongly influence risk. We evaluate the contribution of noncoding regulatory variation across the size and frequency spectrum through whole …

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A Rare Variant in CACNA1D Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree

J Cosbie Ross, Erika Gedvilaite, Judith A. Badner, Carolyn A. Erdman et autres

, a gene implicated by genome-wide association studies, a G to C nucleotide transversion at 53,835,340 base pairs (bps) was found predicting the substitution of proline for alanine at amino acid position 1751 (A1751P). Using Sanger sequencing, the DNA variant was shown …

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Supplementary Material for: A Rare Variant in CACNA1D Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree

John P. Ross, Erika Gedvilaite, Judith A. Badner, Carolyn A. Erdman et autres

Whole-genome sequencing was performed on 3 bipolar I disorder (BPI) cases from a multiplex pedigree of European ancestry with 7 BPI cases. Within CACNA1D, a gene implicated by genome-wide association studies, a G to C nucleotide transversion at 53,835,340 base pairs (bps) …

Supplementary Material for: A Rare Variant in CACNA1D Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree

Jaime M. Ross, Erika Gedvilaite, Judith A. Badner, Carolyn A. Erdman et autres

Whole-genome sequencing was performed on 3 bipolar I disorder (BPI) cases from a multiplex pedigree of European ancestry with 7 BPI cases. Within CACNA1D, a gene implicated by genome-wide association studies, a G to C nucleotide transversion at 53,835,340 base pairs (bps) …

Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats

Leslie A. Lyons, Carolyn A. Erdman, Robert A. Grahn, Michael Hamilton et autres

Frontonasal dysplasia (FND) can have severe presentations that are medically and socially debilitating. Several genes are implicated in FND conditions, including Aristaless-Like Homeobox 1 (ALX1), which is associated with FND3. Breeds of cats are selected and bred for extremes in craniofacial morphologies. …

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NPAS1 Represses the Generation of Specific Subtypes of Cortical Interneurons

Amelia Stanco, Ramón Pla, Daniel L. Vogt, Yiran Chen et autres

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A rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation

P-M Martin, Xiaoyong Yang, Nick C. Robin, Ernest T. Lam et autres

Wnt signaling, which encompasses multiple biochemical pathways that regulate neural development downstream of extracellular Wnt glycoprotein ligands, has been suggested to contribute to major psychiatric disorders including autism spectrum disorders (ASD). We used next-generation sequencing and Sequenom genotyping technologies to resequence 10 …

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A pilot study evaluating genetic and environmental factors for postpartum depression.

Shareen Y. El‐Ibiary, Steven P. Hamilton, Rebecca Abel, Carolyn A. Erdman et autres

OBJECTIVE: To assess the influence of genetic and environmental risk factors upon postpartum depression. DESIGN: Case-control, prospective study. SETTING: The University of California at San Francisco Obstetric and Gynecology Clinic. PARTICIPANTS: Mothers screened for postpartum depression six weeks after delivery with the …

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Variation in Genes Related to Cochlear Biology Is Strongly Associated with Adult-Onset Deafness in Border Collies

Jennifer S. Yokoyama, Ernest T. Lam, Alison L. Ruhe, Carolyn A. Erdman et autres

Domestic dogs can suffer from hearing losses that can have profound impacts on working ability and quality of life. We have identified a type of adult-onset hearing loss in Border Collies that appears to have a genetic cause, with an earlier age …

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Array-Based Whole-Genome Survey of Dog Saliva DNA Yields High Quality SNP Data

Jennifer S. Yokoyama, Carolyn A. Erdman, Steven P. Hamilton

BACKGROUND: Genome-wide association scans for genetic loci underlying both Mendelian and complex traits are increasingly common in canine genetics research. However, the demand for high-quality DNA for use on such platforms creates challenges for traditional blood sample ascertainment. Though the use of …

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The Tabby cat locus maps to feline chromosome B1

Leslie A. Lyons, S. J. Bailey, Kathleen C. Baysac, Glen Byrns et autres

The Tabby markings of the domestic cat are unique coat patterns for which no causative candidate gene has been inferred from other mammals. In this study, a genome scan was performed on a large pedigree of cats that segregated for Tabby coat …

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