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Douglas M Fowler

Showing results (91-100 of 127) with videos related to

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American Journal of Human Genetics|June 6, 2025
Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretationMin Seon Park, Runjun D Kumar, Cristian Ovadiuc, et al.
Biorxiv : the Preprint Server for Biology|May 10, 2023
High-throughput functional mapping of variants in an arrhythmia gene, <i>KCNE1</i>, reveals novel biologyAyesha Muhammad, Maria E Calandranis, Bian Li, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
MaveMD: A functional data resource for genomic medicineAbbye E McEwen, Jeremy Stone, Malvika Tejura, et al.
Nature Cell Biology|August 20, 2024
Retinoic acid induces human gastruloids with posterior embryo-like structuresNobuhiko Hamazaki, Wei Yang, Connor A Kubo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 21, 2025
Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassificationsAndrew Folta, Adriana E Sedeño Cortés, Pankhuri Gupta, et al.
Journal of Molecular and Cellular Cardiology|April 5, 2023
CRaTER enrichment for on-target gene editing enables generation of variant libraries in hiPSCsClayton E Friedman, Shawn Fayer, Sriram Pendyala, et al.
Heart Rhythm|June 12, 2020
High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel K<sub>V</sub>11.1Krystian A Kozek, Andrew M Glazer, Chai-Ann Ng, et al.
Genome Medicine|May 30, 2024
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biologyAyesha Muhammad, Maria E Calandranis, Bian Li, et al.
Molecular Cell|April 9, 2019
A Combined Approach Reveals a Regulatory Mechanism Coupling Src's Kinase Activity, Localization, and Phosphotransferase-Independent FunctionsEthan Ahler, Ames C Register, Sujata Chakraborty, et al.
Genome Biology|June 4, 2026
Evidence for G6PD variant classification from multiplexed functional assaysRenee C Geck, Melinda K Wheelock, Rachel L Powell, et al.
Pageof 13

Showing results (91-100 of 127) with videos related to

Sort By:
Pageof 13
American Journal of Human Genetics|June 6, 2025
Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretationMin Seon Park, Runjun D Kumar, Cristian Ovadiuc, et al.
Biorxiv : the Preprint Server for Biology|May 10, 2023
High-throughput functional mapping of variants in an arrhythmia gene, <i>KCNE1</i>, reveals novel biologyAyesha Muhammad, Maria E Calandranis, Bian Li, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
MaveMD: A functional data resource for genomic medicineAbbye E McEwen, Jeremy Stone, Malvika Tejura, et al.
Nature Cell Biology|August 20, 2024
Retinoic acid induces human gastruloids with posterior embryo-like structuresNobuhiko Hamazaki, Wei Yang, Connor A Kubo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 21, 2025
Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassificationsAndrew Folta, Adriana E Sedeño Cortés, Pankhuri Gupta, et al.
Journal of Molecular and Cellular Cardiology|April 5, 2023
CRaTER enrichment for on-target gene editing enables generation of variant libraries in hiPSCsClayton E Friedman, Shawn Fayer, Sriram Pendyala, et al.
Heart Rhythm|June 12, 2020
High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel K<sub>V</sub>11.1Krystian A Kozek, Andrew M Glazer, Chai-Ann Ng, et al.
Genome Medicine|May 30, 2024
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biologyAyesha Muhammad, Maria E Calandranis, Bian Li, et al.
Molecular Cell|April 9, 2019
A Combined Approach Reveals a Regulatory Mechanism Coupling Src's Kinase Activity, Localization, and Phosphotransferase-Independent FunctionsEthan Ahler, Ames C Register, Sujata Chakraborty, et al.
Genome Biology|June 4, 2026
Evidence for G6PD variant classification from multiplexed functional assaysRenee C Geck, Melinda K Wheelock, Rachel L Powell, et al.
Pageof 13