David R Adams
12PUBLICATIONS
102CO-AUTHORS
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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
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim
|Oct 03, 2023
Spectrum of LYST 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
