Introduction to Genomic Analysis Workshop: A catalyst for engaging life-science researchers in high throughput analysis [version 1; peer review: 2 approved]

by Phillip A. Richmond, Wyeth W. Wasserman
Published 2019-07-01

A trans-acting Variant within the Transcription Factor RIM101 Interacts with Genetic Background to Determine its Regulatory Capacity.

by Timothy Read, Phillip A Richmond, Robin D Dowell
Published 2016-01-01

Systems genetics analysis of the LXS recombinant inbred mouse strains:Genetic and molecular insights into acute ethanol tolerance.

by Richard A Radcliffe, Robin Dowell, Aaron T Odell, Phillip A Richmond, Beth Bennett, Colin Larson, Katerina Kechris, Laura M Saba, Pratyaydipta Rudra, Shi Wen
Published 2020-01-01

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

by Bhavi P. Modi, Kate L. Del Bel, Susan Lin, Mehul Sharma, Phillip A. Richmond, Clara D. M. van Karnebeek, Edmond S. Chan, Vishal Avinashi, Wingfield E. Rehmus, Catherine M. Biggs, Wyeth W. Wasserman, Stuart E. Turvey
Published 2021-01-01

Adult GAMT deficiency: A literature review and report of two siblings

by Bhavi P. Modi, Haq Nawaz Khan, Robin van der Lee, Muhammad Wasim, Charlotte A. Haaxma, Phillip A. Richmond, Britt Drögemöller, Suleman Shah, Gajja Salomons, Frans M. van der Kloet, Fred M. Vaz, Saskia N. van der Crabben, Colin J. Ross, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Fazli Rabbi Awan
Published 2021-06-01

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

by Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J. F. A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew M. Gross, Bryan R. Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan H. Veldink, David R. Bentley, Ryan K. C. Yuen, Melanie Bahlo, Michael A. Eberle
Published 2020-04-01

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

by Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J. F. A. van Vugt, Ramona R. A. J. Zwamborn, Genomics England Research Consortium, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle
Published 2022-08-01

Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy

by Phillip A. Richmond, Frans van der Kloet, Frans van der Kloet, Frederic M. Vaz, Frederic M. Vaz, David Lin, Anuli Uzozie, Anuli Uzozie, Emma Graham, Michael Kobor, Sara Mostafavi, Perry D. Moerland, Philipp F. Lange, Philipp F. Lange, Antoine H. C. van Kampen, Antoine H. C. van Kampen, Wyeth W. Wasserman, Marc Engelen, Marc Engelen, Stephan Kemp, Stephan Kemp, Stephan Kemp, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek
Published 2020-06-01