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RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2247
By:
- Marshall, Aren E.;
- MacDonald, Stella K.;
- Liang, Yijing;
- Couse, Madeline;
- Boycott, Kym M.;
- Richer, Julie;
- Kernohan, Kristin D.
Publication type:
Article
Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63590
By:
- Marshall, Aren E.;
- Brady, Lauren;
- Yeh, Ed;
- Mears, Alan J.;
- Lacaria, Melanie;
- Chakraborty, Pranesh;
- Tarnopolsky, Mark A.;
- Kernohan, Kristin D.
Publication type:
Article
Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63522
By:
- Del Gobbo, Giulia F.;
- Wang, Xueqi;
- Couse, Madeline;
- Mackay, Layla;
- Goldsmith, Claire;
- Marshall, Aren E.;
- Liang, Yijing;
- Lambert, Christine;
- Zhang, Siyuan;
- Dhillon, Harsharan;
- Fanslow, Cairbre;
- Rowell, William J.;
- Marshall, Christian R.;
- Kernohan, Kristin D.;
- Boycott, Kym M.
Publication type:
Article
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63485
By:
- Marshall, Aren E.;
- Lemire, Gabrielle;
- Liang, Yijing;
- Davila, Jorge;
- Couse, Madeline;
- Boycott, Kym M.;
- Kernohan, Kristin D.
Publication type:
Article
RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12‐related disorder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1664, doi. 10.1002/ajmg.a.63184
By:
- Bhola, Priya T.;
- Marshall, Aren E.;
- Liang, Yijing;
- Couse, Madeline;
- Wang, Xueqi;
- Miller, Elka;
- Morel, Chantal F.;
- Boycott, Kym M.;
- Kernohan, Kristin D.
Publication type:
Article
A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin‐Siris syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2493, doi. 10.1002/ajmg.a.62849
By:
- MacDonald, Stella K.;
- Marshall, Aren E.;
- Lemire, Gabrielle;
- Hartley, Taila;
- Kernohan, Kristin D.;
- Boycott, Kym M.
Publication type:
Article
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Published in:
Clinical Genetics, 2023, v. 103, n. 3, p. 288, doi. 10.1111/cge.14262
By:
- Hartley, Taila;
- Soubry, Élisabeth;
- Acker, Meryl;
- Osmond, Matthew;
- Couse, Madeline;
- Gillespie, Meredith K.;
- Ito, Yoko;
- Marshall, Aren E.;
- Lemire, Gabrielle;
- Huang, Lijia;
- Chisholm, Caitlin;
- Eaton, Alison J.;
- Price, E. Magda;
- Dowling, James J.;
- Ramani, Arun K.;
- Mendoza‐Londono, Roberto;
- Costain, Gregory;
- Axford, Michelle M.;
- Szuto, Anna;
- McNiven, Vanda
Publication type:
Article
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
Published in:
Clinical Genetics, 2021, v. 99, n. 5, p. 746, doi. 10.1111/cge.13935
By:
- McMillan, Hugh J.;
- Marshall, Aren E.;
- Venkateswaran, Sunita;
- Hartley, Taila;
- Warman‐Chardon, Jodi;
- Ramani, Arun K.;
- Marshall, Christian R.;
- Michaud, Jean;
- Boycott, Kym M.;
- Dyment, David A.;
- Kernohan, Kristin D.
Publication type:
Article
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Published in:
Annals of Neurology, 2022, v. 92, n. 2, p. 304, doi. 10.1002/ana.26381
By:
- Calame, Daniel G.;
- Herman, Isabella;
- Maroofian, Reza;
- Marshall, Aren E.;
- Donis, Karina Carvalho;
- Fatih, Jawid M.;
- Mitani, Tadahiro;
- Du, Haowei;
- Grochowski, Christopher M.;
- Sousa, Sergio B.;
- Gijavanekar, Charul;
- Bakhtiari, Somayeh;
- Ito, Yoko A.;
- Rocca, Clarissa;
- Hunter, Jill V.;
- Sutton, V. Reid;
- Emrick, Lisa T.;
- Boycott, Kym M.;
- Lossos, Alexander;
- Fellig, Yakov
Publication type:
Article
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 4, p. 614, doi. 10.1093/hmg/ddab247
By:
- Sleiman, Sophie;
- Marshall, Aren E;
- Dong, Xiaomin;
- Mhanni, Aziz;
- Alidou-D'Anjou, Ismaël;
- Frosk, Patrick;
- Marin, Samantha E;
- Stark, Zornitza;
- Bigio, Marc R Del;
- McBride, Arran;
- Sadedin, Simon;
- Gallacher, Lyndon;
- Consortium, Care4Rare Canada;
- Christodoulou, John;
- Boycott, Kym M;
- Dragon, François;
- Kernohan, Kristin D
Publication type:
Article

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