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David R Adams

12PUBLICATIONS

102CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesMetabolic medicineGenetic immunologyOptical technology

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Publications (12)

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|Dec 25, 2025

Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data.

Kaushik Ram Ganapathy, Martin Broly, Sarah Silverstein

|Aug 11, 2025

BK channel activity in skin fibroblasts from patients with neurological disorder.

Ria L Dinsdale, Thomas R Middendorf, Deborah Disilvestre

|Dec 26, 2024

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Thomas Cassini, Sarah Silverstein, Molly Behan

|Apr 22, 2024

<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Oct 03, 2023

Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon

|Jul 10, 2021

A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.

Stacie K Loftus, Linnea Lundh, Dawn E Watkins-Chow

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Frequent Collaborators

3 joint publications

Cynthia J Tifft

2 joint publications

May Christine V Malicdan

2 joint publications

Gareth S Baynam

2 joint publications

Sarah Silverstein

2 joint publications

Camilo Toro

2 joint publications

Ellen F Macnamara

2 joint publications

William Gahl

1 joint publications

Leigh Carmody

1 joint publications

Kayli Rageth

1 joint publications

Peter N Robinson

Frequent Collaborators

3 joint publications

Cynthia J Tifft

2 joint publications

May Christine V Malicdan

2 joint publications

Gareth S Baynam

2 joint publications

Sarah Silverstein

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