Insights into genetic assistant practice and the workforce in North America
Krutish, Angela, Liu, Xiao‐Qing, Kelly, Christine, Chin, Shannon R., Hartley, Jessica N.
Published in Journal of genetic counseling (01.04.2024)
Published in Journal of genetic counseling (01.04.2024)
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Journal Article
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families
Hartley, Jessica N., Simard, Louise R., Ly, Valentina, Del Bigio, Marc R., Frosk, Patrick
Published in American journal of medical genetics. Part A (01.02.2019)
Published in American journal of medical genetics. Part A (01.02.2019)
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Journal Article
Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38
Uminski, Kelsey, Houston, Donald S., Hartley, Jessica N., Liu, Jing, Cuvelier, Geoffrey D.E., Israels, Sara J.
Published in Pediatric blood & cancer (01.10.2020)
Published in Pediatric blood & cancer (01.10.2020)
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Journal Article
Exploring the role of a multidisciplinary hereditary gynecologic oncology clinic in epithelial ovarian cancer risk‐reducing surgical decision‐making practices: A mixed‐methods study
Casalino, Selina, Bruce, Sharon, Serfas, Kim, Altman, Alon D., Kean, Sarah, Lambert, Pascal, McManus, Kirk J., Hartley, Jessica N., Nachtigal, Mark W.
Published in Journal of genetic counseling (01.06.2023)
Published in Journal of genetic counseling (01.06.2023)
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Journal Article
Reflex Seizures in a Patient with CDKL5 Deficiency Disorder
Peikes, Tyler, Hartley, Jessica N., Mhanni, Aizeddin A., Greenberg, Cheryl R., Appendino, Juan Pablo
Published in Canadian journal of neurological sciences (01.07.2019)
Published in Canadian journal of neurological sciences (01.07.2019)
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Journal Article
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Whalen, Sandra, Shaw, Marie, Mignot, Cyril, Héron, Delphine, Bastaraud, Sandra Chantot, Walti, Cecile Cieuta, Liebelt, Jan, Elmslie, Frances, Yap, Patrick, Hurst, Jane, Forsythe, Elisabeth, Kirmse, Brian, Ozmore, Jillian, Spinelli, Alessandro Mauro, Calabrese, Olga, de Villemeur, Thierry Billette, Tabet, Anne Claude, Levy, Jonathan, Guet, Agnes, Kossorotoff, Manoëlle, Kamien, Benjamin, Morton, Jenny, McCabe, Anne, Brischoux-Boucher, Elise, Raas-Rothschild, Annick, Pini, Antonella, Carroll, Renée, Hartley, Jessica N, Frosk, Patrick, Slavotinek, Anne, Truxal, Kristen, Jennifer, Carroll, Dheedene, Annelies, Cui, Hong, Kumar, Vishal, Thomson, Glen, Riccardi, Florence, Gecz, Jozef, Villard, Laurent
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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Journal Article
Chromosome microarray and undiagnosed seizures in a pediatric patient
Dawson, Angelika J, Mhanni, Aizeddin A, Booth, Frances A, Seargeant, Lorne, Bernier, Daniele, Tomiuk, Michelle, Hartley, Jessica N, Strecker, Michelle, Hovanes, Karine
Published in Canadian journal of neurological sciences (01.03.2014)
Published in Canadian journal of neurological sciences (01.03.2014)
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Journal Article
Genetic Counseling in a Busy Pediatric Metabolic Practice
Hartley, Jessica N., Greenberg, Cheryl R., Mhanni, Aizeddin A.
Published in Journal of genetic counseling (01.02.2011)
Published in Journal of genetic counseling (01.02.2011)
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Journal Article
Cover Image, Volume 179A, Number 2, February 2019
Hartley, Jessica N., Simard, Louise R., Ly, Valentina, Del Bigio, Marc R., Frosk, Patrick
Published in American journal of medical genetics. Part A (01.02.2019)
Published in American journal of medical genetics. Part A (01.02.2019)
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Journal Article
Diagnostic challenges in Salla disease
Hartley, Jessica N., Salman, Michael S., Booth, Frances A., Seargeant, Lorne, Wenger, David A., Wrogemann, Jens, Mhanni, Aizeddin A.
Published in Open journal of genetics (2013)
Published in Open journal of genetics (2013)
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Journal Article