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Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'Obstetrique Et Gynecologie Du Canada : JOGC|November 27, 2018
Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac AnomaliesRyan E Lamont, Yanwei Xi, Claire Popko, et al.
American Journal of Medical Genetics. Part A|September 28, 2016
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite populationRyan E Lamont, Chandree L Beaulieu, Francois P Bernier, et al.
Developmental Biology|April 30, 2016
The LIM-homeodomain transcription factor Islet2a promotes angioblast migrationRyan E Lamont, Chang-Yi Wu, Jae-Ryeon Ryu, et al.
Neurogenetics|February 8, 2026
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritanceEmma H Gillesse, Miranda Wan, Setareh Ashtiani, et al.
G3 (Bethesda, Md.)|March 24, 2022
Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivoDanielle L Blackwell, Sherri D Fraser, Oana Caluseriu, et al.
International Journal of Neonatal Screening|November 29, 2021
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular TestingJanet R Zhou, Ross Ridsdale, Lauren MacNeil, et al.
American Journal of Human Genetics|December 3, 2014
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiencyRebecca Buchert, Hasan Tawamie, Christopher Smith, et al.
Frontiers in Cardiovascular Medicine|October 8, 2016
An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient GenotypingPaul M K Gordon, Aneal Khan, Umair Sajid, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
American Journal of Human Genetics|May 26, 2009
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndromeJoy Armistead, Sunita Khatkar, Britta Meyer, et al.
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