Publications by authors named "Gregory M Findlay"

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Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists.
Sophie Allen, Alice Garrett, Charlie F Rowlands, Miranda Durkie, George J Burghel, Gregory M Findlay

Am J Hum Genet· June 2025

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High-throughput screening of human genetic variants by pooled prime editing.
Michael Herger, Christina M Kajba, Megan Buckley, Ana Cunha, Molly Strom, Gregory M Findlay

Cell Genom· April 2025

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Saturation genome editing of reveals distinct dominant and recessive neurodevelopmental disorders.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Gregory M Findlay

medRxiv· April 2025

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Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Megan Buckley, Chloé Terwagne, Athina Ganner, Laura Cubitt, Reid Brewer, Gregory M Findlay

Nat Genet· July 2024

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spinDrop: a droplet microfluidic platform to maximise single-cell sequencing information content.
Joachim De Jonghe, Tomasz S Kaminski, David B Morse, Marcin Tabaka, Anna L Ellermann, Gregory M Findlay

Nat Commun· August 2023

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Reducing uncertainty in genetic testing with Saturation Genome Editing.
Phoebe Dace, Gregory M Findlay

Med Genet· December 2022

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Linking genome variants to disease: scalable approaches to test the functional impact of human mutations.
Gregory M Findlay

Hum Mol Genet· October 2021

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Concurrent genome and epigenome editing by CRISPR-mediated sequence replacement.
Jes Alexander, Gregory M Findlay, Martin Kircher, Jay Shendure

BMC Biol· November 2019

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Genomic Medicine-Progress, Pitfalls, and Promise.
Jay Shendure, Gregory M Findlay, Matthew W Snyder

Cell· March 2019

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Accurate classification of BRCA1 variants with saturation genome editing.
Gregory M Findlay, Riza M Daza, Beth Martin, Melissa D Zhang, Anh P Leith

Nature· October 2018

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CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.
Molly Gasperini, Gregory M Findlay, Aaron McKenna, Jennifer H Milbank, Choli Lee

Am J Hum Genet· August 2017

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Whole-organism lineage tracing by combinatorial and cumulative genome editing.
Aaron McKenna, Gregory M Findlay, James A Gagnon, Marshall S Horwitz, Alexander F Schier

Science· July 2016

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Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course.
Akash Kumar, Max Dougherty, Gregory M Findlay, Madeleine Geisheker, Jason Klein

PLoS One· December 2015

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Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation.
Ramon Y Birnbaum, Rupali P Patwardhan, Mee J Kim, Gregory M Findlay, Beth Martin

PLoS Genet· October 2014

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Saturation editing of genomic regions by multiplex homology-directed repair.
Gregory M Findlay, Evan A Boyle, Ronald J Hause, Jason C Klein, Jay Shendure

Nature· September 2014

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An siRNA screen for NFAT activation identifies septins as coordinators of store-operated Ca2+ entry.
Sonia Sharma, Ariel Quintana, Gregory M Findlay, Marcel Mettlen, Beate Baust

Nature· July 2013

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Dephosphorylation of the nuclear factor of activated T cells (NFAT) transcription factor is regulated by an RNA-protein scaffold complex.
Sonia Sharma, Gregory M Findlay, Hozefa S Bandukwala, Shalini Oberdoerffer, Beate Baust

Proc Natl Acad Sci U S A· July 2011

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