Publications by authors named "Ryan Lamont"

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Genome Sequencing Identifies a Heterozygous Deletion of RBFOX2 in a Family With Congenital Heart Disease: A Case Report.
Francesca Jean, Amanda Stuart, Julien Marcadier, Francois P Bernier, Ryan E Lamont

Am J Med Genet A· October 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Ryan Lamont

Nat Genet· June 2025

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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
François Lecoquierre, A Mattijs Punt, Frédéric Ebstein, Ilse Wallaard, Rob Verhagen, Ryan Lamont

Genet Med· June 2024

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Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
Ryan Lamont, Malcolm King, Alexandra King, Kerri Schellenberg, Gerald Pfeffer

Brain· May 2024

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Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Vandana Shashi, Kelly Schoch, Rebecca Ganetzky, Peter G Kranz, Neal Sondheimer, Ryan E Lamont

Genet Med· September 2023

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Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Chloe Mighton, Amanda C Smith, Justin Mayers, Robert Tomaszewski, Sherryl Taylor, Ryan E Lamont

J Med Genet· June 2022

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Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo.
Danielle L Blackwell, Sherri D Fraser, Oana Caluseriu, Claudia Vivori, Amanda V Tyndall, Ryan E Lamont

G3 (Bethesda)· May 2022

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The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.
Janet R Zhou, Ross Ridsdale, Lauren MacNeil, Margaret Lilley, Stephanie Hoang, Ryan E Lamont

Int J Neonatal Screen· November 2021

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De novo variants in MPP5 cause global developmental delay and behavioral changes.
Noelle Sterling, Anna R Duncan, Raehee Park, David A Koolen, Jiahai Shi, Ryan E Lamont

Hum Mol Genet· December 2020

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When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.
Alison Eaton, Taila Hartley, Kristin Kernohan, Yoko Ito, Ryan Lamont

Clin Genet· June 2020

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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Jaya Punetha, Ender Karaca, Alper Gezdirici, Ryan E Lamont, Davut Pehlivan

Ann Clin Transl Neurol· August 2019

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Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.
Max Krall, Stephanie Htun, Rhonda E Schnur, Alice S Brooks, Laura Baker, Ryan E Lamont

Eur J Hum Genet· April 2019

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is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.
Tian Zhao, Caitlin M Goedhart, Pingdewinde N Sam, Rasha Sabouny, Susanne Lingrell, Ryan E Lamont

Life Sci Alliance· April 2019

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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
Tessa van Dijk, Sacha Ferdinandusse, Jos P N Ruiter, Mariëlle Alders, Inge B Mathijssen, Ryan E Lamont

Eur J Hum Genet· December 2018

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Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.
Alison Eaton, Francois P Bernier, Caitlin Goedhart, Oana Caluseriu, Ryan E Lamont

Am J Med Genet A· November 2018

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Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.
Ryan E Lamont, Yanwei Xi, Claire Popko, Joanna Lazier, Francois P Bernier

J Obstet Gynaecol Can· November 2018

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Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Matthew S Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha D Speevak, John S Waye, Ryan E Lamont

Genet Med· March 2018

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Advancing Concussion Assessment in Pediatrics (A-CAP): a prospective, concurrent cohort, longitudinal study of mild traumatic brain injury in children: protocol study.
Keith Owen Yeates, Miriam Beauchamp, William Craig, Quynh Doan, Roger Zemek, Ryan Lamont

BMJ Open· July 2017

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Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.
Ryan E Lamont, Chandree L Beaulieu, Francois P Bernier, Rebecca Sparkes, A Micheil Innes

Am J Med Genet A· May 2017

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A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Ryan E Lamont, Chandree L Beaulieu, Francois P Bernier, Rebecca Sparkes, A Micheil Innes

Am J Med Genet A· March 2017

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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, Babak Oskouian, Honnappa Srinivas, Ryan E Lamont

J Clin Invest· March 2017

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Two De Novo Mutations in an Autistic Child Who Had Previously Undergone Transplantation for Dilated Cardiomyopathy: The Importance of Keeping an Open Mind.
Umair Sajid, Bob Argiropoulos, Xing-Chang Wei, Jillian S Parboosingh, Ryan E Lamont

Can J Cardiol· February 2017

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Expansion of phenotype and genotypic data in CRB2-related syndrome.
Ryan E Lamont, Wen-Hann Tan, A Micheil Innes, Jillian S Parboosingh, Dina Schneidman-Duhovny

Eur J Hum Genet· October 2016

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An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping.
Paul M K Gordon, Aneal Khan, Umair Sajid, Nicholas Chang, Varun Suresh, Ryan E Lamont

Front Cardiovasc Med· September 2016

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The LIM-homeodomain transcription factor Islet2a promotes angioblast migration.
Ryan E Lamont, Chang-Yi Wu, Jae-Ryeon Ryu, Wendy Vu, Paniz Davari

Dev Biol· June 2016

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