Gabrielle T Lemire (Gabrielle Lemire)

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 11

Top Venues

American journal of medical genetics. Part A

medRxiv : the preprint server for health sciences

Children's Hospital of Eastern Ontario

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Children's Hospital of Eastern Ontario

Canada

Research Fellow :: Medical Genetics

Publications

Shloka Negi, Sarah L Stenton, Seth I Berger, Brandy McNulty, Ivo Violich, Joshua Gardner, Todd Hillaker, Sara M O'Rourke, Melanie C O'Leary, Elizabeth Carbonell, Christina A Austin-Tse, Gabrielle T Lemire, Jillian Serrano, Brian Mangilog, Grace E VanNoy, Mikhail Kolmogorov, Eric Vilain, Anne H O'Donnell-Luria, Emmanuèle C Délot, Karen H Miga, Jean Monlong, Benedict Paten
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. medRxiv : the preprint server for health sciences (2024)
Gabrielle T Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Moriel Singer-Berk, Emily Groopman, Isaac Wong, Eleina England, Julia Goodrich, Lynn Pais, Christina Austin-Tse, Stephanie DiTroia, Emily O'Heir, Vijay S Ganesh, Monica H Wojcik, Emily Evangelista, Hana Snow, Ikeoluwa Osei-Owusu, Jack Fu, Mugdha Singh, Yulia Mostovoy, Steve Huang, Kiran Garimella, Samantha L Kirkham, Jennifer E Neil, Diane D Shao, Christopher A Walsh, Emanuela Argili, Carolyn Le, Elliott H Sherr, Joseph Gleeson, Shirlee Shril, Ronen Schneider, Friedhelm Hildebrandt, Vijay G Sankaran, Jill A Madden, Casie A Genetti, Alan H Beggs, Pankaj B Agrawal, Kinga M Bujakowska, Emily Place, Eric A Pierce, Sandra Donkervoort, Carsten G Bönnemann, Lyndon Gallacher, Zornitza Stark, Tiong Tan, Susan M White, Ana Töpf, Volker Straub, Mark D Fleming, Martin R Pollak, Katrin Õunap, Sander Pajusalu, Kirsten A Donald, Zandre Bruwer, Gianina Ravenscroft, Nigel G Laing, Daniel G MacArthur, Heidi L Rehm, Michael E Talkowski, Harrison Brand, Anne H O'Donnell-Luria
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv : the preprint server for health sciences (2023)
Aren Elizabeth Marshall, Gabrielle T Lemire, Yijing Liang, Jorge Davila, Madeline Couse, null null, Kym M Boycott, Kristin D Kernohan
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31. American journal of medical genetics. Part A (2023)
Grace Uwaila Ediae, Caitlin Chisholm, Gabrielle T Lemire, Fred Campbell, Kym M Boycott
Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia. American journal of medical genetics. Part A (2023)
Sarah L Stenton, Melanie O'Leary, Gabrielle T Lemire, Grace E VanNoy, Stephanie DiTroia, Vijay S Ganesh, Emily Groopman, Emily O'Heir, Brian Mangilog, Ikeoluwa Osei-Owusu, Lynn S Pais, Jillian G Serrano, Moriel H Singer-Berk, Ben Weisburd, Michael Wilson, Christina Austin-Tse, Marwa Abdelhakim, Azza Thamer Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Hoehndorf Robert, Julius O B Jacobsen, Thomas Joseph, Akash Kamandula, Panagiostis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, Marta Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio S Podda, Aditya Rao, Ettore Rizzo, Vangala G Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda Williams, Elizabeth A Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E Brenner, Stephanie Malia Fullerton, Predrag Radivojac, Michael J Bamshad, Anne H O'Donnell-Luria
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project. medRxiv : the preprint server for health sciences (2023)
Stella K MacDonald, Aren E Marshall, Gabrielle T Lemire, Taila Hartley, null null, Kristin D Kernohan, Kym M Boycott
A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome. American journal of medical genetics. Part A 188 (8) (2022)
Grace Uwaila Ediae, Gabrielle T Lemire, Caitlin Chisholm, Taila Hartley, Alison Eaton, Matthew Osmond, Samantha K Rojas, Lijia Huang, Meredith Gillespie, null null, Sarah L Sawyer, Kym M Boycott
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience. American journal of medical genetics. Part A (2022)
Alexandre M White-Brown, Gabrielle T Lemire, Yoko A Ito, Olivia Thornburg, Jennifer M Bain, David A Dyment
A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation. American journal of medical genetics. Part A (2021)
Gabrielle T Lemire, Bixia Zheng, Grace U Ediae, Ruobing Zou, Priya T Bhola, Caitlin Chisholm, Joseph de Nanassy, Bryan Lo, Chunyan Wang, Shirlee Shril, Sherif El Desoky, Mohammed Shalaby, Jameela A Kari, Xueqi Wang, null null, Kristin D Kernohan, Kym M Boycott, Friedhelm Hildebrandt, Sarah L Sawyer
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia. American journal of medical genetics. Part A 185 (10) (2021)
Gabrielle T Lemire, Stella K MacDonald, Kym M Boycott
SMG9-deficiency syndrome caused by a homozygous missense variant: Expanding the genotypic and phenotypic spectrum of this developmental disorder. American journal of medical genetics. Part A 182 (7) (2020)
Gabrielle T Lemire, Éliane Beauregard-Lacroix, Philippe M Campeau, Stefan Parent, Marjolaine Roy-Beaudry, Dorothée Dal Soglio, Andrée Grignon, Françoise Rypens, Sandrine Wavrant, Anne-Marie Laberge, Marie-Ange Delrue
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome. American journal of medical genetics. Part A 182 (4) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Gabrielle T Lemire (Gabrielle Lemire)