Works by Dyment, David A.

Results: 84

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 504, doi. 10.1002/mgg3.223

By:

Hamilton, Alison;
Tétreault, Martine;
Dyment, David A.;
Zou, Ruobing;
Kernohan, Kristin;
Geraghty, Michael T.;
Hartley, Taila;
Boycott, Kym M.

Publication type:

Article

Phenotype Spectrum of TRPM3‐Associated Disorders.

Published in:

Annals of Neurology, 2025, v. 97, n. 3, p. 561, doi. 10.1002/ana.27141

By:

Jolitz, Laura;
Helbig, Ingo;
Fitzgerald, Mark P.;
McKeown Ruggiero, Sarah;
Cohen, Stacey;
Angelini, Chloe;
Vallespin, Elena;
Michaud, Vincent;
Gerasimenko, Anna;
Cogne, Benjamin;
Isidor, Bertrand;
Keren, Boris;
Dyment, David;
Heron, Delphine;
Karstensen, Helena Gásdal;
Cuppen, Inge;
Christodoulou, John;
Wilson, Meredith;
Lake, Nicole J.;
Biskup, Saskia

Publication type:

Article

Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.

Published in:

Annals of Neurology, 2022, v. 91, n. 5, p. 730, doi. 10.1002/ana.26275

By:

Estiar, Mehrdad A.;
Lail, Noor;
Dyment, David A.;
Varghaei, Parizad;
Hartley, Taila;
Gillespie, Meredith K.;
Yoon, Grace;
Boycott, Kym M.;
Rouleau, Guy A.;
Gan‐Or, Ziv

Publication type:

Article

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

Published in:

Epilepsia (Series 4), 2014, v. 55, n. 7, p. e75, doi. 10.1111/epi.12663

By:

Venkateswaran, Sunita;
Myers, Ken A.;
Smith, Amanda C.;
Beaulieu, Chandree L.;
Schwartzentruber, Jeremy A.;
Majewski, Jacek;
Bulman, Dennis;
Boycott, Kym M.;
Dyment, David A.

Publication type:

Article

Cover Image, Volume 58, Number 7, July 2023.

Published in:

Pediatric Pulmonology, 2023, v. 58, n. 7, p. i, doi. 10.1002/ppul.26552

By:

Hunter‐Schouela, Julia;
Geraghty, Michael T.;
Hegele, Robert A.;
Dyment, David A.;
St Pierre, David;
Richer, Julie;
Sheffield, Holden;
Zariwala, Maimoona A.;
Knowles, Michael R.;
Lehman, Anna;
Dell, Sharon;
Shapiro, Adam J.;
Kovesi, Thomas A.

Publication type:

Article

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.

Published in:

Pediatric Pulmonology, 2023, v. 58, n. 7, p. 1942, doi. 10.1002/ppul.26414

By:

Hunter‐Schouela, Julia;
Geraghty, Michael T.;
Hegele, Robert A.;
Dyment, David A.;
St Pierre, David;
Richer, Julie;
Sheffield, Holden;
Zariwala, Maimoona A.;
Knowles, Michael R.;
Lehman, Anna;
Dell, Sharon;
Shapiro, Adam J.;
Kovesi, Thomas A.

Publication type:

Article

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66978-8

By:

Evans, Daniel R.;
Green, Jane S.;
Fahiminiya, Somayyeh;
Majewski, Jacek;
Fernandez, Bridget A.;
Deardorff, Matthew A.;
Johnson, Gordon J.;
Whelan, James H.;
Hubmacher, Dirk;
Apte, Suneel S.;
Care4Rare Canada Consortium;
Boycott, Kym;
Bulman, Dennis;
Dyment, David;
McKenzie, Alex;
Brudno, Michael;
Woods, Michael O.

Publication type:

Article

Multiple sclerosis in the Iranian immigrant population of BC, Canada: prevalence and risk factors.

Published in:

Multiple Sclerosis Journal, 2014, v. 20, n. 9, p. 1182, doi. 10.1177/1352458513519179

By:

Guimond, Colleen;
Lee, Joshua D;
Ramagopalan, Sreeram V;
Dyment, David A;
Hanwell, Heather;
Giovannoni, Gavin;
Criscuoli, Maria;
Yee, Irene M;
Vorobeychik, Galina;
Ebers, George C;
Sadovnick, A Dessa

Publication type:

Article

Rare variants in the CYP27B1 gene are associated with multiple sclerosis.

Published in:

Annals of Neurology, 2011, v. 70, n. 6, p. 881, doi. 10.1002/ana.22678

By:

Ramagopalan, Sreeram V.;
Dyment, David A.;
Cader, M. Zameel;
Morrison, Katie M.;
Disanto, Giulio;
Morahan, Julia M.;
Berlanga-Taylor, Antonio J.;
Handel, Adam;
De Luca, Gabriele C.;
Sadovnick, A. Dessa;
Lepage, Pierre;
Montpetit, Alexandre;
Ebers, George C.

Publication type:

Article

HLA- DRB1* 15, low infant sibling exposure, and multiple sclerosis gene-environment interaction.

Published in:

Annals of Neurology, 2010, v. 67, n. 5, p. 694, doi. 10.1002/ana.21900

By:

Ramagopalan, Sreeram V.;
Dyment, David A.;
Giovannoni, Gavin;
Sadovnick, A. Dessa;
Ebers, George C.

Publication type:

Article

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia.

Published in:

Epilepsia (Series 4), 2024, v. 65, n. 11, p. 3303, doi. 10.1111/epi.18115

By:

Symonds, Joseph D.;
Park, Kristen L.;
Mignot, Cyril;
Macleod, Stewart;
Armstrong, Martin;
Ashrafian, Houman;
Bernard, Geneviève;
Brown, Kathleen;
Brunklaus, Andreas;
Callaghan, Mary;
Classen, Georg;
Cohen, Julie S.;
Cutcutache, Ioana;
de Sainte Agathe, Jean‐Madeleine;
Dyment, David;
Elliot, Katherine S.;
Isapof, Arnaud;
Joss, Shelagh;
Keren, Boris;
Marble, Michael

Publication type:

Article

IRF2BPL‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.

Published in:

Movement Disorders, 2024, v. 39, n. 11, p. 2102, doi. 10.1002/mds.29938

By:

Venkateswaran, Sunita;
Michaud, Jean;
Ito, Yoko;
Geraghty, Michael;
Lewis, Evan C.;
Ellezam, Benjamin;
Boycott, Kym M.;
Dyment, David A.;
Kernohan, Kristin D.

Publication type:

Article

Parental transmission of HLA-DRB1*15 in multiple sclerosis.

Published in:

Human Genetics, 2008, v. 122, n. 6, p. 661, doi. 10.1007/s00439-007-0442-z

By:

Ramagopalan, Sreeram V.;
Herrera, Blanca M.;
Bell, Jordana T.;
Dyment, David A.;
DeLuca, Gabriele C.;
Lincoln, Matthew R.;
Orton, Sarah M.;
Chao, Michael J.;
Sadovnick, A. Dessa;
Ebers, George C.

Publication type:

Article

Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation.

Published in:

Child Neurology Open, 2018, v. 5, p. 1, doi. 10.1177/2329048X18787946

By:

Kyriakopoulos, Paulina;
McNiven, Vanda;
Carter, Melissa T.;
Humphreys, Peter;
Dyment, David;
Fantaneanu, Tadeu A.

Publication type:

Article

A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis.

Published in:

Nature Genetics, 2005, v. 37, n. 10, p. 1108, doi. 10.1038/ng1647

By:

Lincoln, Matthew R.;
Montpetit, Alexandre;
Cader, M. Zameel;
Saarela, Janna;
Dyment, David A.;
Tiislar, Milvi;
Ferretti, Vincent;
Tienari, Pentti J.;
Sadovnick, A. Dessa;
Peltonen, Leena;
Ebers, George C.;
Hudson, Thomas J.

Publication type:

Article

Missense variant in SRCAP with distinct DNA methylation signature associated with non‐FLHS SRCAP‐related neurodevelopmental disorder.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2640, doi. 10.1002/ajmg.a.63329

By:

White‐Brown, Alexandre;
Choufani, Sanaa;
Weksberg, Rosanna;
Dyment, David

Publication type:

Article

A 79‐kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver‐Russell syndrome‐like phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2421, doi. 10.1002/ajmg.a.62782

By:

Vincent, Krista Marie;
Stavropoulos, Dimitri J.;
Beaulieu‐Bergeron, Melanie;
Yang, Chen;
Jiang, Mary;
Zuijdwijk, Caroline;
Dyment, David A.;
Graham, Gail E.

Publication type:

Article

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

Published in:

2018

By:

Simons, Cas;
Dyment, David;
van der Knaap, Marjo S.;
Wolf, Nicole I.

Publication type:

Letter

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Published in:

2017

By:

Simons, Cas;
Dyment, David;
Bent, Stephen J.;
Crawford, Joanna;
D'Hooghe, Marc;
Kohlschütter, Alfried;
Venkateswaran, Sunita;
Helman, Guy;
Poll-The, Bwee-Tien;
Makowski, Christine C.;
Yoko Ito;
Kernohan, Kristin;
Hartley, Taila;
Waisfisz, Quinten;
Taft, Ryan J.;
van der Knaap, Marjo S.;
Wolf, Nicole I.;
Ito, Yoko;
Care4Rare Consortium

Publication type:

journal article

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

Published in:

2016

By:

Luco, Stephanie M.;
Pohl, Daniela;
Sell, Erick;
Wagner, Justin D.;
Dyment, David A.;
Daoud, Hussein

Publication type:

Case Study

An extension to a statistical approach for family based association studies provides insights into genetic risk factors for multiple sclerosis in the HLA-DRB1 gene .

Published in:

BMC Medical Genetics, 2009, v. 10, p. 1, doi. 10.1186/1471-2350-10-10

By:

Ramagopalan, Sreeram V.;
McMahon, Roisin;
Dyment, David A.;
Sadovnick, A. Dessa;
Ebers, George C.;
Wittkowski, Knut M.

Publication type:

Article

Methylation of class II transactivator gene promoter IV is not associated with susceptibility to Multiple Sclerosis.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-63

By:

Ramagopalan, Sreeram V.;
Dyment, David A.;
Morrison, Katie M.;
Herrera, Blanca M.;
DeLuca, Gabriele C.;
Lincoln, Matthew R.;
Orton, Sarah M.;
Handunnetthi, Lahiru;
Chao, Michael J.;
Sadovnick, A. Dessa;
Ebers, George C.

Publication type:

Article

Prevalence of MS in Iranian Immigrants to British Columbia, Canada.

Published in:

2010

By:

Guimond, Colleen;
Dyment, David A.;
Ramagopalan, Sreeram V.;
Giovannoni, Gavin;
Criscuoli, Maria;
Yee, Irene M.;
Ebers, George C.;
Sadovnick, A. Dessa

Publication type:

Letter

Mother–child blood group incompatibility and the risk of multiple sclerosis.

Published in:

2010

By:

Ramagopalan, Sreeram V.;
Dyment, David A.;
Guimond, Colleen;
Orton, Sarah-Michelle;
Yee, Irene M.;
Ebers, George C.;
Sadovnick, A. Dessa

Publication type:

Letter

Analysis of 45 candidate genes for disease modifying activity in multiple sclerosis.

Published in:

Journal of Neurology, 2008, v. 255, n. 8, p. 1215, doi. 10.1007/s00415-008-0878-7

By:

Ramagopalan, Sreeram V.;
DeLuca, Gabriele C.;
Morrison, Katie M.;
Herrera, Blanca M.;
Dyment, David A.;
Lincoln, Matthew R.;
Orton, Sarah-Michelle;
Chao, Michael J.;
Degenhardt, Alexandra;
Pugliatti, Maura;
Sadovnick, A. Dessa;
Sotgiu, Stefano;
Ebers, George C.

Publication type:

Article

Atypical Hepatic Mesenchymal Hamartoma: Histologic Appearance, Immunophenotype, and Molecular Findings.

Published in:

Pediatric & Developmental Pathology, 2019, v. 22, n. 4, p. 365, doi. 10.1177/1093526618806750

By:

El Demellawy, Dina;
Lee, James YJ;
McDonell, Laura;
Dyment, David A;
Knisely, AS;
McGowan-Jordan, Jean;
Ngan, Bo;
Finegold, Milton;
Kapur, Raj P;
Nasr, Ahmed

Publication type:

Article

The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria.

Published in:

Human Mutation, 2018, v. 39, n. 11, p. 1476, doi. 10.1002/humu.23632

By:

Helbig, Ingo;
Riggs, Erin Rooney;
Barry, Carrie‐Anne;
Klein, Karl Martin;
Dyment, David;
Thaxton, Courtney;
Sadikovic, Bekim;
Sands, Tristan T.;
Wagnon, Jacy L.;
Liaquat, Khalida;
Cilio, Maria Roberta;
Mirzaa, Ghayda;
Park, Kristen;
Axeen, Erika;
Butler, Elizabeth;
Bardakjian, Tanya M.;
Striano, Pasquale;
Poduri, Annapurna;
Siegert, Rebecca K.;
Grant, Andrew R.

Publication type:

Article

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

Published in:

Human Mutation, 2018, v. 39, n. 2, p. 197, doi. 10.1002/humu.23374

By:

Kernohan, Kristin D.;
Hartley, Taila;
Alirezaie, Najmeh;
Care4Rare Canada Consortium;
Robinson, Peter N.;
Dyment, David A.;
Boycott, Kym M.

Publication type:

Article

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Published in:

Human Mutation, 2017, v. 38, n. 6, p. 611, doi. 10.1002/humu.23211

By:

Kernohan, Kristin D.;
Frésard, Laure;
Zappala, Zachary;
Hartley, Taila;
Smith, Kevin S.;
Wagner, Justin;
Xu, Hongbin;
McBride, Arran;
Bourque, Pierre R.;
Consortium, Care4Rare Canada;
Bennett, Steffany A. L.;
Dyment, David A.;
Boycott, Kym M.;
Montgomery, Stephen B.;
Warman Chardon, Jodi

Publication type:

Article

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.

Published in:

Human Mutation, 2017, v. 38, n. 5, p. 511, doi. 10.1002/humu.23196

By:

Kernohan, Kristin D.;
Dyment, David A.;
Pupavac, Mihaela;
Cramer, Zvi;
McBride, Arran;
Bernard, Genevieve;
Straub, Isabella;
Tetreault, Martine;
Hartley, Taila;
Huang, Lijia;
Sell, Erick;
Majewski, Jacek;
Rosenblatt, David S.;
Shoubridge, Eric;
Mhanni, Aziz;
Myers, Tara;
Proud, Virginia;
Vergano, Samanta;
Spangler, Brooke;
Farrow, Emily

Publication type:

Article

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia.

Published in:

Human Mutation, 2014, v. 35, n. 1, p. 45, doi. 10.1002/humu.22451

By:

Sawyer, Sarah L.;
Schwartzentruber, Jeremy;
Beaulieu, Chandree L.;
Dyment, David;
Smith, Amanda;
Chardon, Jodi Warman;
Yoon, Grace;
Rouleau, Guy A.;
Suchowersky, Oksana;
Siu, Victoria;
Murphy, Lisa;
Hegele, Robert A.;
Marshall, Christian R.;
Bulman, Dennis E.;
Majewski, Jacek;
Tarnopolsky, Mark;
Boycott, Kym M.

Publication type:

Article

Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 667, doi. 10.1002/humu.22290

By:

Lynch, Danielle C.;
Dyment, David A.;
Huang, Lijia;
Nikkel, Sarah M.;
Lacombe, Didier;
Campeau, Philippe M.;
Lee, Brendan;
Bacino, Carlos A.;
Michaud, Jacques L.;
Bernier, Francois P.;
Consortium, FORGE Canada;
Parboosingh, Jillian S.;
Innes, A. Micheil

Publication type:

Article

Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 97, doi. 10.1002/humu.22222

By:

Lynch, Danielle C.;
Dyment, David A.;
Huang, Lijia;
Nikkel, Sarah M.;
Lacombe, Didier;
Campeau, Philippe M.;
Lee, Brendan;
Bacino, Carlos A.;
Michaud, Jacques L.;
Bernier, Francois P.;
Consortium, FORGE Canada;
Parboosingh, Jillian S.;
Innes, A. Micheil

Publication type:

Article

What is Next for the Genetics of Multiple Sclerosis?

Published in:

Autoimmune Diseases (2090-0422), 2011, p. 1, doi. 10.4061/2011/519450

By:

Ramagopalan, Sreeram V.;
Dyment, David A.

Publication type:

Article

Multiple Sclerosis.

Published in:

Autoimmune Diseases (2090-0422), 2011, p. 1, doi. 10.4061/2011/248758

By:

Ramagopalan, Sreeram;
Dyment, David;
Farrell, Rachel;
Isobe, Noriko

Publication type:

Article

Age of Onset in Concordant Twins and Other Relative Pairs With Multiple Sclerosis.

Published in:

American Journal of Epidemiology, 2009, v. 170, n. 3, p. 289, doi. 10.1093/aje/kwp143

By:

Sadovnick, A. Dessa;
Yee, Irene M.;
Guimond, Colleen;
Reis, Jacques;
Dyment, David A.;
Ebers, George C.

Publication type:

Article

Congenital Abnormalities and Multiple Sclerosis.

Published in:

BMC Neurology, 2010, v. 10, p. 115, doi. 10.1186/1471-2377-10-115

By:

Ramagopalan, Sreeram V.;
Guimond, Colleen;
Criscuoli, Maria;
Dyment, David A.;
Orton, Sarah-Michelle;
Yee, Irene M.;
Ebers, George C.;
Sadovnick, Dessa

Publication type:

Article

No effect of preterm birth on the risk of multiple sclerosis: a population based study.

Published in:

BMC Neurology, 2008, v. 8, p. 1, doi. 10.1186/1471-2377-8-30

By:

Ramagopalan, Sreeram V.;
Valdar, William;
Dyment, David A.;
DeLuca, Gabriele C.;
Orton, Sarah-Michelle;
Yee, Irene M.;
Criscuoli, Maria;
Ebers, George C.;
Sadovnick, A. Dessa

Publication type:

Article

Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.

Published in:

Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 940, doi. 10.1002/mdc3.13086

By:

Gauquelin, Laurence;
Hartley, Taila;
Tarnopolsky, Mark;
Dyment, David A.;
Brais, Bernard;
Geraghty, Michael T.;
Tétreault, Martine;
Ahmed, Sohnee;
Rojas, Samantha;
Choquet, Karine;
Majewski, Jacek;
Bernier, François;
Innes, Allan Micheil;
Rouleau, Guy;
Suchowersky, Oksana;
Boycott, Kym M.;
Yoon, Grace

Publication type:

Article

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 629, doi. 10.1002/acn3.51983

By:

Donkervoort, Sandra;
Mohassel, Payam;
O'Leary, Melanie;
Bonner, Devon E.;
Hartley, Taila;
Acquaye, Nicole;
Brull, Astrid;
Mozaffar, Tahseen;
Saporta, Mario A.;
Dyment, David A.;
Sampson, Jacinda B.;
Pajusalu, Sander;
Austin‐Tse, Christina;
Hurth, Kyle;
Cohen, Julie S.;
McWalter, Kirsty;
Warman‐Chardon, Jodi;
Crunk, Amy;
Foley, A. Reghan;
Acosta, Maria T.

Publication type:

Article

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 12, p. 1941, doi. 10.1002/acn3.51687

By:

Lee, Michelle M.;
McDowell, Graeme S. V.;
De Vivo, Darryl C.;
Friedman, Daniel;
Berkovic, Samuel F.;
Spanou, Maria;
Dinopoulos, Argirios;
Grand, Katheryn;
Sanchez‐Lara, Pedro A.;
Allen‐Sharpley, Michelle;
Warman‐Chardon, Jodi;
Solyom, Alexander;
Levade, Thierry;
Schuchman, Edward H.;
Bennett, Steffany A. L.;
Dyment, David A.;
Pearson, Toni S.

Publication type:

Article

A genome-wide scan of male sexual orientation.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 2, p. 131, doi. 10.1038/jhg.2009.135

By:

Ramagopalan, Sreeram V.;
Dyment, David A.;
Handunnetthi, Lahiru;
Rice, George P.;
Ebers, George C.

Publication type:

Article

Parent-of-origin of HLA-DRB1*1501 and age of onset of multiple sclerosis.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 9, p. 547, doi. 10.1038/jhg.2009.69

By:

Ramagopalan, Sreeram V.;
Byrnes, Jake K.;
Dyment, David A.;
Guimond, Colleen;
Handunnetthi, Lahiru;
Disanto, Giulio;
Yee, Irene M.;
Ebers, George C.;
Sadovnick, A. Dessa

Publication type:

Article

A genome-wide scan in forty large pedigrees with multiple sclerosis.

Published in:

Journal of Human Genetics, 2007, v. 52, n. 12, p. 955, doi. 10.1007/s10038-007-0194-6

By:

Willer, Cristen J.;
Dyment, David A.;
Cherny, Stacey;
Ramagopalan, Sreeram V.;
Herrera, Blanca M.;
Morrison, Katie M. E.;
Sadovnick, A. Dessa;
Risch, Neil J.;
Ebers, George C.

Publication type:

Article

Unsolved recognizable patterns of human malformation: Challenges and opportunities.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 382, doi. 10.1002/ajmg.c.31665

By:

Boycott, Kym M.;
Dyment, David A.;
Innes, A. Micheil

Publication type:

Article

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 458, doi. 10.1002/ajmg.c.31662

By:

Hartley, Taila;
Balcı, Tuğçe B.;
Rojas, Samantha K.;
Eaton, Alison;
Canada, Care4Rare;
Dyment, David A.;
Boycott, Kym M.

Publication type:

Article

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 387, doi. 10.1002/ajmg.c.31661

By:

Innes, A. Micheil;
McInnes, Brenda L.;
Dyment, David A.

Publication type:

Article

Different patterns of gene silencing in position-effect variegation.

Published in:

Genome, 2003, v. 46, n. 6, p. 1104, doi. 10.1139/G03-070

By:

Lloyd, Vett K.;
Dyment, David;
Sinclair, Donald A.R.;
Grigliatti, Thomas A.

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

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 10, doi. 10.1111/cge.13746

By:

Ranza, Emmanuelle;
Guimier, Anne;
Verloes, Alain;
Capri, Yline;
Marques, Charles;
Auclair, Martine;
Mathieu‐Dramard, Michèle;
Morin, Gilles;
Thevenon, Julien;
Faivre, Laurence;
Thauvin‐Robinet, Christel;
Innes, A. Micheil;
Dyment, David A.;
Vigouroux, Corinne;
Amiel, Jeanne

Publication type:

Article