Publications by authors named "Ryan Lamont"

34Publications

When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.

Clin Genet 2020 06 30;97(6):835-843. Epub 2020 Mar 30.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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June 2020

is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.

Life Sci Alliance 2019 04 11;2(2). Epub 2019 Mar 11.

Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

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April 2019

Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.

J Obstet Gynaecol Can 2018 11;40(11):1417-1423

Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB; Alberta Children's Hospital Research Institute, Calgary, AB. Electronic address:

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November 2018

Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.

Am J Med Genet A 2018 11 23;176(11):2487-2493. Epub 2018 Sep 23.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta.

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November 2018

Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.

Am J Med Genet A 2017 May 28;173(5):1452. Epub 2017 Mar 28.

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan.

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May 2017

Two De Novo Mutations in an Autistic Child Who Had Previously Undergone Transplantation for Dilated Cardiomyopathy: The Importance of Keeping an Open Mind.

Can J Cardiol 2017 02 26;33(2):292.e5-292.e7. Epub 2016 Sep 26.

Department of Paediatrics, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada; Department of Cardiac Sciences and Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, Alberta, Canada. Electronic address:

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February 2017

An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping.

Front Cardiovasc Med 2016 22;3:33. Epub 2016 Sep 22.

Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada; Department of Paediatrics, University of Calgary, Calgary, AB, Canada; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB, Canada; Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, AB, Canada.

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September 2016

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.

Am J Med Genet A 2017 Mar 27;173(3):596-600. Epub 2016 Sep 27.

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, SK, Canada.

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March 2017

The LIM-homeodomain transcription factor Islet2a promotes angioblast migration.

Dev Biol 2016 06 25;414(2):181-92. Epub 2016 Apr 25.

Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, 3330 Hospital Drive NW, Calgary AB, Canada, T2N 4N1. Electronic address:

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June 2016

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.

Am J Med Genet A 2016 Mar 22;170(3):760-5. Epub 2015 Dec 22.

Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

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March 2016

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

Am J Hum Genet 2015 Dec 19;97(6):862-8. Epub 2015 Nov 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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December 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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August 2015