David A Dyment (D A Dyment, David Dyment)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 31

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Genes

Annals of clinical and translational neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
Ian C Smith, Chantal A Pileggi, Ying Wang, Kristin Kernohan, Taila Hartley, Hugh J Mcmillan, Marcos Loreto Sampaio, Gerd Melkus, John M Woulfe, Gaganvir Parmar, Pierre Raymond Bourque, Thanh B Nguyen, Jocelyn Christine Zwicker, C Elizabeth Pringle, Olga Jarinova, Hanns Lochmüller, David A Dyment, Bernard Brais, Kym M Boycott, null null, Siegfried Hekimi, Mary-Ellen Harper, Jodi Warman-Chardon
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy. Neurology. Genetics 9 (1) (2023)
Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, Arran McBride, Madeline Couse, William Macdonald, Mellissa R W Mann, Pierre Raymond Bourque, Thanh B Nguyen, Hanns Lochmüller, John M Woulfe, Marcos Loreto Sampaio, Gerd Melkus, Bernard Brais, David A Dyment, Kym M Boycott, Kristin Kernohan
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. Neurology. Genetics 9 (5) (2023)
Alexandre White-Brown, Sanaa Choufani, null null, Rosanna Weksberg, David A Dyment
Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder. American journal of medical genetics. Part A (2023)
Jodi Warman-Chardon, Taila Hartley, Aren Elizabeth Marshall, Arran McBride, Madeline Couse, William Macdonald, Mellissa R W Mann, Pierre Raymond Bourque, Thanh B Nguyen, Hanns Lochmüller, John M Woulfe, Marcos Loreto Sampaio, Gerd Melkus, Bernard Brais, David A Dyment, Kym M Boycott, Kristin Kernohan
Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction. Neurology. Genetics 9 (5) (2023)
Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A Dyment, Kristin D Kernohan
A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria. Genes 14 (1) (2022)
Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A Dyment, Kristin D Kernohan
A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria. Genes 14 (1) (2022)
Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A Dyment, Kristin D Kernohan
A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria. Genes 14 (1) (2022)
Krista Marie Vincent, Dimitri J Stavropoulos, Melanie Beaulieu-Bergeron, Chen Yang, Mary Jiang, Caroline Zuijdwijk, David A Dyment, Gail E Graham
A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype. American journal of medical genetics. Part A 188 (8) (2022)
Michelle M Lee, Graeme S V McDowell, Darryl C De Vivo, Daniel Friedman, Samuel Frank Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A Sanchez-Lara, Michelle Allen-Sharpley, Jodi Warman-Chardon, Alexander Solyom, Thierry Levade, Edward H Schuchman, Steffany A L Bennett, David A Dyment, Toni S Pearson
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile. Annals of clinical and translational neurology (2022)
Matthew A Lines, Paula Goldenberg, Ashley Wong, Siddharth Srivastava, Allan Bayat, Hanne Hove, Helena Gásdal Karstensen, Kwame Anyane-Yeboa, Jun Liao, Nan Jiang, Alison May, Edwin Guzman, Manuela Morleo, Stefano D'Arrigo, Claudia Ciaccio, Chiara Pantaleoni, Raffaele Castello, null null, Shane McKee, Jinfon Ong, Hana Zibdeh-Lough, Frederic Tran-Mau-Them, Anna Gerasimenko, Delphine Heron, Boris Keren, Henri Margot, Jean-Madeleine de Sainte Agathe, Lydie Burglen, Thomas Voets, Joris Vriens, A Micheil Innes, David A Dyment
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. American journal of medical genetics. Part A 188 (6) (2022)
Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A Dyment, Kristin D Kernohan
A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria. Genes 14 (1) (2022)
Heather Leduc-Pessah, Alexandre White-Brown, Taila Hartley, Daniela Pohl, David A Dyment
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies. Genes 13 (5) (2022)
Taila Hartley, Élisabeth Soubry, Meryl Acker, Matthew Osmond, Madeline Couse, Meredith K Gillespie, Yoko Ito, Aren E Marshall, Gabrielle Lemire, Lijia Huang, Caitlin Chisholm, Alison J Eaton, E Magda Price, James E Dowling, Arun K Ramani, Roberto Mendoza-Londono, Gregory Costain, Michelle M Axford, Anna Szuto, Vanda McNiven, Nadirah Damseh, Rebekah Jobling, Leanne de Kock, Bahareh A Mojarad, Ted Young, Zhuo Shao, Robin Z Hayeems, Ian D Graham, Mark A Tarnopolsky, Lauren Brady, Christine M Armour, Michael Geraghty, Julie Richer, Sarah Sawyer, Matthew Lines, Saadet Mercimek-Mahmutoglu, Melissa T Carter, Gail Graham, Peter Kannu, Joanna Lazier, Chumei Li, Ritu B Aul, Tugce B Balci, Nomazulu Dlamini, Lauren Badalato, Andrea Guerin, Jagdeep Walia, David Chitayat, Ronald Cohn, Hanna Faghfoury, Cynthia Forster-Gibson, Hernan Gonorazky, Eyal Grunebaum, Michal Inbar-Feigenberg, Natalya Karp, Chantal Morel, Alison Rusnak, Neal Sondheimer, Jodi Warman-Chardon, Priya T Bhola, Danielle K Bourque, Inara Chacon Fonseca, Lauren Chad, Pranesh Chakraborty, Karen Chong, Asif Doja, Elaine Suk-Ying Goh, Maha Saleh, null null, Beth K Potter, Christian R Marshall, David A Dyment, Kristin Kernohan, Kym M Boycott
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Clinical genetics (2022)
Alexandre M White-Brown, Gabrielle T Lemire, Yoko A Ito, Olivia Thornburg, Jennifer M Bain, David A Dyment
A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation. American journal of medical genetics. Part A (2021)
Hugh J Mcmillan, Aren E Marshall, Sunita Venkateswaran, Taila Hartley, Jodi Warman-Chardon, Arun K Ramani, Christian R Marshall, Jean Michaud, Kym M Boycott, David A Dyment, Kristin D Kernohan
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy. Clinical genetics 99 (5) (2021)
Alice Lepelley, Erika Della Mina, Erika Van Nieuwenhove, Lise Waumans, Sylvie Fraitag, Gillian I Rice, Ashish Dhir, Marie-Louise Frémond, Mathieu Paul Rodero, Luis Seabra, Edwin Carter, Christine Bodemer, Daniela Buhas, Bert Callewaert, Pascale De Lonlay, Lien De Somer, David A Dyment, Fran Faes, Lucy Grove, Simon Holden, Marie Hully, Manju A Kurian, Hugh J Mcmillan, Kristin Suetens, Henna Tyynismaa, Stéphanie Chhun, Timothy Wai, Carine Wouters, Brigitte Bader-Meunier, Yanick J Crow
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A. The Journal of experimental medicine 218 (10) (2021)
Hugh J Mcmillan, Jorge Davila, Matt Osmond, Pranesh Chakraborty, null null, Kym M Boycott, David A Dyment, Kristin D Kernohan
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature. American journal of medical genetics. Part A 185 (11) (2021)
Emmanuelle Ranza, Anne Guimier, Alain Verloes, Yline Capri, Charles Marques, Martine Auclair, Michèle Mathieu-Dramard, Gilles Morin, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet, A Micheil Innes, David A Dyment, Corinne Vigouroux, Jeanne Amiel
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants. Clinical genetics 98 (1) (2020)
David A Dyment, Anne H O'Donnell-Luria, Pankaj B Agrawal, Zeynep Coban Akdemir, Kyrieckos A Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan H Beggs, Kaya Bilguvar, Eric Boerwinkle, Harrison Brand, Catherine A Brownstein, Steve Buyske, Bernard Chodirker, Jungmin Choi, Albert E Chudley, Carol L Clericuzio, Gerald F Cox, Cynthia Curry, Elke de Boer, Bert B A de Vries, Kathryn Dunn, Cullen M Dutmer, Eleina M England, Jill A Fahrner, Bilgen Bilge Geckinli, Casie A Genetti, Alper Gezdirici, William T Gibson, Joseph G Gleeson, Cheryl R Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N Jhangiani, Ender Karaca, Kristin Kernohan, Julie L Lauzon, M E Suzanne Lewis, R Brian Lowry, Francesc López-Giráldez, Tara C Matise, Jennifer McEvoy-Venneri, Brenda McInnes, Aziz Mhanni, Sixto Garcia Minaur, Jukka Moilanen, An Nguyen, Malgorzata J M Nowaczyk, Jennifer E Posey, Katrin Õunap, Davut Pehlivan, Sander Pajusalu, Lynette S Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David Wargowski, P Dane Witmer, Isaac Wong, Jinchuan Xing, Maha Saad Zaki, Yeting Zhang, null null, null null, Kym M Boycott, Michael J Bamshad, Deborah A Nickerson, Elizabeth E Blue, A Micheil Innes
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. American journal of medical genetics. Part A 185 (1) (2020)
A Micheil Innes, Brenda L McInnes, David A Dyment
Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research. American journal of medical genetics. Part C, Seminars in medical genetics 178 (4) (2019)
Taila Hartley, Tuğçe B Balcı, Samantha K Rojas, Alison J Eaton, Care Rare Canada, David A Dyment, Kym M Boycott
The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®. American journal of medical genetics. Part C, Seminars in medical genetics 178 (4) (2019)
Kristin D Kernohan, Taila Hartley, Sergey Naumenko, Christine M Armour, Gail E Graham, Sarah M Nikkel, Matthew Lines, Michael T Geraghty, Julie Richer, Wendy Mears, Kym M Boycott, David A Dyment
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit. American journal of medical genetics. Part A 176 (7) (2019)
Kym M Boycott, David A Dyment, A Micheil Innes
Unsolved recognizable patterns of human malformation: Challenges and opportunities. American journal of medical genetics. Part C, Seminars in medical genetics 178 (4) (2019)
Kristin D Kernohan, Arran McBride, Taila Hartley, Samantha K Rojas, null null, David A Dyment, Kym M Boycott, Sarah Dyack
p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy. Clinical genetics 96 (5) (2019)
Y A Ito, A C Smith, K D Kernohan, I A Pena, A Ahmed, L M McDonell, C Beaulieu, D E Bulman, A Smidt, S L Sawyer, null null, David A Dyment, Kym M Boycott, C L Clericuzio
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. Clinical genetics 94 (3-4) (2018)
Kenneth A Myers, D L Johnstone, David A Dyment
Epilepsy genetics: Current knowledge, applications, and future directions. Clinical genetics 95 (1) (2018)
Faheem Malam, Taila Hartley, Meredith K Gillespie, Christine M Armour, Erika Bariciak, Gail E Graham, Sarah M Nikkel, Julie Richer, Sarah L Sawyer, Kym M Boycott, David A Dyment
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort. American journal of medical genetics. Part A 173 (7) (2017)

David A Dyment.css-eqlu8i{font-size:small;padding-left:4px;} (D A Dyment, David Dyment)

Publication Activity (10 Years)

Top Topics

Top Venues

David A Dyment (D A Dyment, David Dyment)