Phillip Richmond
9PUBLICATIONS
166CO-AUTHORS
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Publications (9)
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|Mar 14, 2026
Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.Kiana Rashidi, Bhavi P Modi, Phillip A Richmond
|Sep 12, 2025
Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome Analysis.Makenna DuBois, Katherine Dixon, Charlotte Sherlaw-Sturrock
|May 20, 2025
A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.Maryam Vaseghi-Shanjani, Mehul Sharma, Pariya Yousefi
|Oct 02, 2024
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju
|Mar 18, 2024
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju
|Mar 08, 2023
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.Mehul Sharma, Daniel Leung, Mana Momenilandi
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Frequent Collaborators
3 joint publications
Stuart E Turvey
2 joint publications
Yu-Lung Lau
2 joint publications
Miranda Pg Zalusky
2 joint publications
Jonas A Gustafson
2 joint publications
Wyeth W Wasserman
2 joint publications
Nikhita Damaraju
2 joint publications
Sophia B Gibson
2 joint publications
Mehul Sharma
2 joint publications
Catherine M Biggs
2 joint publications
Maryam Vaseghi-Shanjani
