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Communications Biology|January 8, 2024
A revised nomenclature for the lemur family of protein kinasesGábor M Mórotz, Neil A Bradbury, Oana Caluseriu, et al.
Human Molecular Genetics|January 7, 2023
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndromeMidhat Rizvi, Tina K Truong, Janet Zhou, et al.
Human Mutation|July 13, 2019
The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndromeMayukh Banerjee, Denis Arutyunov, Daniel Brandwein, 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.
Genes|November 11, 2022
Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian ExperienceAsra Almubarak, Dan Zhang, Mackenzie Kosak, et al.
American Journal of Medical Genetics. Part A|November 19, 2022
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinicsApurba Mainali, Taryn Athey, Shalini Bahl, et al.
Human Mutation|July 16, 2015
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPKP Y Billie Au, Jing You, Oana Caluseriu, et al.
Journal of Medical Genetics|September 21, 2021
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical GeneticistsJoanna Lazier, Taila Hartley, Jo-Ann Brock, et al.
Human Molecular Genetics|May 23, 2002
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndromeRosanna Weksberg, Cheryl Shuman, Oana Caluseriu, et al.
American Journal of Human Genetics|April 22, 2023
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosisAndrew T Timberlake, Stephen McGee, Garrett Allington, et al.
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