| JASPAR 2020: update of the open-access database of transcription factor binding profiles O Fornes, JA Castro-Mondragon, A Khan, R Van der Lee, X Zhang, ... Nucleic acids research 48 (D1), D87-D92, 2020 | 1953 | 2020 |
| Polyploidy can drive rapid adaptation in yeast AM Selmecki, YE Maruvka, PA Richmond, M Guillet, N Shoresh, ... Nature 519 (7543), 349-352, 2015 | 489 | 2015 |
| ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data E Dolzhenko, MF Bennett, PA Richmond, B Trost, S Chen, JJFA Van Vugt, ... Genome biology 21, 1-14, 2020 | 167 | 2020 |
| Prolonged Cre expression driven by the α-myosin heavy chain promoter can be cardiotoxic EK Pugach, PA Richmond, JG Azofeifa, RD Dowell, LA Leinwand Journal of molecular and cellular cardiology 86, 54-61, 2015 | 133 | 2015 |
| Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS ABP van Kuilenburg, M Tarailo-Graovac, PA Richmond, BI Drögemöller, ... New England Journal of Medicine 380 (15), 1433-1441, 2019 | 96 | 2019 |
| Genome-wide dose-dependent inhibition of histone deacetylases studies reveal their roles in enhancer remodeling and suppression of oncogenic super-enhancers GJ Sanchez, PA Richmond, EN Bunker, SS Karman, J Azofeifa, ... Nucleic acids research 46 (4), 1756-1776, 2018 | 78 | 2018 |
| Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease M Sharma, D Leung, M Momenilandi, LCW Jones, L Pacillo, AE James, ... Journal of Experimental Medicine 220 (5), e20221755, 2023 | 76 | 2023 |
| Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data TH Webster, M Couse, BM Grande, E Karlins, TN Phung, PA Richmond, ... Gigascience 8 (7), giz074, 2019 | 73 | 2019 |
| The influence of polyploidy on the evolution of yeast grown in a sub-optimal carbon source AL Scott, PA Richmond, RD Dowell, AM Selmecki Molecular biology and evolution 34 (10), 2690-2703, 2017 | 39 | 2017 |
| REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats E Dolzhenko, B Weisburd, K Ibañez, IS Rajan-Babu, C Anyansi, ... Genome medicine 14 (1), 84, 2022 | 36 | 2022 |
| Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation JA Gustafson, SB Gibson, N Damaraju, MPG Zalusky, K Hoekzema, ... medRxiv, 2024 | 23 | 2024 |
| Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study AM Elliott, S Adam, C du Souich, A Lehman, TN Nelson, C van Karnebeek, ... Human Genetics and Genomics Advances 3 (3), 2022 | 22 | 2022 |
| Multi-omic approach to identify phenotypic modifiers underlying cerebral demyelination in X-linked adrenoleukodystrophy PA Richmond, F Van der Kloet, FM Vaz, D Lin, A Uzozie, E Graham, ... Frontiers in cell and developmental biology 8, 520, 2020 | 22 | 2020 |
| metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes EJ Graham Linck, PA Richmond, M Tarailo-Graovac, U Engelke, ... NPJ genomic medicine 5 (1), 25, 2020 | 16 | 2020 |
| MANTA2, update of the Mongo database for the analysis of transcription factor binding site alterations O Fornes, M Gheorghe, PA Richmond, DJ Arenillas, WW Wasserman, ... Scientific Data 5 (1), 1-7, 2018 | 16 | 2018 |
| High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation JA Gustafson, SB Gibson, N Damaraju, MPG Zalusky, K Hoekzema, ... Genome Research 34 (11), 2061-2073, 2024 | 15 | 2024 |
| Quantitative trait locus mapping of acute functional tolerance in the LXS recombinant inbred strains B Bennett, C Larson, PA Richmond, AT Odell, LM Saba, B Tabakoff, ... Alcoholism: Clinical and Experimental Research 39 (4), 611-620, 2015 | 12 | 2015 |
| Adult GAMT deficiency: a literature review and report of two siblings BP Modi, HN Khan, R van der Lee, M Wasim, CA Haaxma, PA Richmond, ... Molecular Genetics and Metabolism Reports 27, 100761, 2021 | 11 | 2021 |
| A trans-acting Variant within the Transcription Factor RIM101 Interacts with Genetic Background to Determine its Regulatory Capacity T Read, PA Richmond, RD Dowell PLoS Genetics 12 (1), e1005746, 2016 | 11 | 2016 |
| Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region XC Ye, NM Roslin, AD Paterson, CJ Lyons, V Pegado, P Richmond, ... Journal of Medical Genetics 59 (1), 46-55, 2022 | 6 | 2022 |
Wyeth WassermanProfessor of Medical Genetics, University of British ColumbiaEmail verificata su cmmt.ubc.ca