Works matching AU Dyment, David A.

Results: 85

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 6, p. 1118, doi. 10.1002/acn3.70016

By:

Cuillerier, Alexanne;
Del Gobbo, Giulia F.;
Mackay, Layla;
Wall, Erika;
Couse, Madeline;
McDonell, Laura M.;
Cloutier, Mireille;
Danzi, Matt C.;
Warman‐Chardon, Jodi;
Bourque, Pierre R.;
Suchowersky, Oksana;
Mears, Alan;
Seldenthuis, Luke;
Mears, Wendy;
Larrigan, Laura;
White‐Brown, Alexandre;
Pfeffer, Gerald;
Bulman, Dennis E.;
Dyment, David;
Boycott, Kym M.

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

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 De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria.

Published in:

2023

By:

Thulasirajah, Salini;
Wang, Xueqi;
Sell, Erick;
Dávila, Jorge;
Dyment, David A.;
Kernohan, Kristin D.

Publication type:

Case Study

The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.

Published in:

Genes, 2022, v. 13, n. 5, p. 872, doi. 10.3390/genes13050872

By:

Leduc-Pessah, Heather;
White-Brown, Alexandre;
Hartley, Taila;
Pohl, Daniela;
Dyment, David 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

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

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

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

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cε) impairing TORC2-dependent AKT activation.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 19, p. 3713, doi. 10.1093/hmg/ddx256

By:

Alcantara, Diana;
Elmslie, Frances;
Tetreault, Martine;
Bareke, Eric;
Hartley, Taila;
Majewski, Jacek;
Boycott, Kym;
Innes, A. Micheil;
Dyment, David A.;
O'Driscoll, Mark

Publication type:

Article

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 9, p. 1706, doi. 10.1093/hmg/ddx077

By:

Johnstone, Devon L.;
Nguyen, Thi-Tuyet-Mai;
Yoshiko Murakami;
Kernohan, Kristin D.;
Tétreault, Martine;
Goldsmith, Claire;
Doja, Asif;
Wagner, Justin D.;
Huang, Lijia;
Hartley, Taila;
St-Denis, Anik;
le Deist, Françoise;
Majewski, Jacek;
Bulman, Dennis E.;
Taroh Kinoshita;
Dyment, David A.;
Boycott, Kym M.;
Campeau, Philippe M.

Publication type:

Article

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5109, doi. 10.1093/hmg/ddv229

By:

Sawyer, Sarah L.;
Cheuk-Him Ng, Andy;
Innes, A. Micheil;
Wagner, Justin D.;
Dyment, David A.;
Tetreault, Martine;
Majewski, Jacek;
Boycott, Kym M.;
Screaton, Robert A.;
Nicholson, Garth

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

p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy.

Published in:

Clinical Genetics, 2019, v. 96, n. 5, p. 449, doi. 10.1111/cge.13618

By:

Kernohan, Kristin D.;
McBride, Arran;
Hartley, Taila;
Rojas, Samantha K.;
Dyment, David A.;
Boycott, Kym M.;
Dyack, Sarah

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

A disease‐causing variant in HNRNPH2 inherited from an unaffected mother with skewed X‐inactivation.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 668, doi. 10.1002/ajmg.a.62549

By:

White‐Brown, Alexandre M.;
Lemire, Gabrielle;
Ito, Yoko A.;
Thornburg, Olivia;
Bain, Jennifer M.;
Dyment, David A.

Publication type:

Article

Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 11, p. 3502, doi. 10.1002/ajmg.a.62457

By:

McMillan, Hugh J.;
Davila, Jorge;
Osmond, Matt;
Chakraborty, Pranesh;
Boycott, Kym M.;
Dyment, David A.;
Kernohan, Kristin D.

Publication type:

Article

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 119, doi. 10.1002/ajmg.a.61926

By:

Dyment, David A.;
O'Donnell‐Luria, Anne;
Agrawal, Pankaj B.;
Coban Akdemir, Zeynep;
Aleck, Kyrieckos A.;
Antaki, Danny;
Al Sharhan, Hind;
Au, Ping‐Yee B.;
Aydin, Hatip;
Beggs, Alan H.;
Bilguvar, Kaya;
Boerwinkle, Eric;
Brand, Harrison;
Brownstein, Catherine A.;
Buyske, Steve;
Chodirker, Bernard;
Choi, Jungmin;
Chudley, Albert E.;
Clericuzio, Carol L.;
Cox, Gerald F.

Publication type:

Article

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1688, doi. 10.1002/ajmg.a.38838

By:

Kernohan, Kristin D.;
Hartley, Taila;
Naumenko, Sergey;
Armour, Christine M.;
Graham, Gail E.;
Nikkel, Sarah M.;
Lines, Matthew;
Geraghty, Michael T.;
Richer, Julie;
Mears, Wendy;
Boycott, Kym M.;
Dyment, David A.

Publication type:

Article

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1839, doi. 10.1002/ajmg.a.38250

By:

Malam, Faheem;
Hartley, Taila;
Gillespie, Meredith K.;
Armour, Christine M.;
Bariciak, Erika;
Graham, Gail E.;
Nikkel, Sarah M.;
Richer, Julie;
Sawyer, Sarah L.;
Boycott, Kym M.;
Dyment, David A.

Publication type:

Article

A Novel Mutation in Two Hmong Families Broadens the Range of STRA6-Related Malformations to Include Contractures and Camptodactyly.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 11, doi. 10.1002/ajmg.a.37389

By:

Marcadier, Julien L.;
Mears, Alan J.;
Woods, Elizabeth A.;
Fisher, Jamie;
Airheart, Cory;
Qin, Wen;
Beaulieu, Chandree L.;
Dyment, David A.;
Innes, A. Micheil;
Curry, Cynthia J.

Publication type:

Article

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2867, doi. 10.1002/ajmg.a.37270

By:

Richer, Julie;
Daoud, Hussein;
Geier, Pavel;
Jarinova, Olga;
Carson, Nancy;
Feberova, Jana;
Ben Fadel, Nadya;
Unrau, Jennifer;
Bareke, Eric;
Khatchadourian, Karine;
Bulman, Dennis E.;
Majewski, Jacek;
Boycott, Kym M.;
Dyment, David A.

Publication type:

Article

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1654, doi. 10.1002/ajmg.a.37067

By:

Richer, Julie;
Daoud, Hussein;
Geier, Pavel;
Jarinova, Olga;
Carson, Nancy;
Feberova, Jana;
Nadya, Ben Fadel;
Unrau, Jennifer;
Bareke, Eric;
Khatchadourian, Karine;
Bulman, Dennis E;
Majewski, Jacek;
Boycott, Kym M;
Dyment, David A

Publication type:

Article

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.

Published in:

Current Neurology & Neuroscience Reports, 2015, v. 15, n. 9, p. 1, doi. 10.1007/s11910-015-0584-7

By:

Warman Chardon, Jodi;
Beaulieu, Chandree;
Hartley, Taila;
Boycott, Kym;
Dyment, David

Publication type:

Article

Recent Advances in the Genetic Etiology of Brain Malformations.

Published in:

Current Neurology & Neuroscience Reports, 2013, v. 13, n. 8, p. 1, doi. 10.1007/s11910-013-0364-1

By:

Dyment, David;
Sawyer, Sarah;
Chardon, Jodi;
Boycott, Kym

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

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

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

Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome.

Published in:

Genetics, 2020, v. 215, n. 4, p. 1055, doi. 10.1534/genetics.120.303399

By:

Dyment, David A.;
Schock, Sarah C.;
Deloughery, Kristen;
Minh Hieu Tran;
Ure, Kerstin;
Nutter, Lauryl M. J.;
Creighton, Amie;
Yuan, Julie;
Banderali, Umberto;
Comas, Tanya;
Baumann, Ewa;
Jezierski, Anna;
Consortium, Rare Canada;
Boycott, Kym M.;
Mackenzie, Alex E.;
Martina, Marzia

Publication type:

Article

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

Published in:

Genetics, 2017, v. 207, n. 4, p. 1501, doi. 10.1534/genetics.117.300137

By:

Pena, Izabella A.;
Roussel, Yann;
Daniel, Kate;
Mongeon, Kevin;
Johnstone, Devon;
Mendes, Hellen Weinschutz;
Bosma, Marjolein;
Saxena, Vishal;
Lepage, Nathalie;
Chakraborty, Pranesh;
Dyment, David A.;
van Karnebeek, Clara D. M.;
Verhoeven-Duif, Nanda;
Tuan Vu Bui;
Boycott, Kym M.;
Ekker, Marc;
MacKenzie, Alex

Publication type:

Article

Genetics of Multiple Sclerosis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 10, p. 1693, doi. 10.1093/hmg/6.10.1693

By:

Dyment, David A.;
Sadnovich, A. Dessa;
Ebers, George C.

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

Unsolved recognizable patterns of human malformation: Challenges and opportunities.

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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

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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

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Lloyd, Vett K.;
Dyment, David;
Sinclair, Donald A.R.;
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Publication type:

Article