Search Results - "Hartley, Jessica N"

Refining the activities of genetic assistants: Development of task statements applicable across practice settings by Tohms, Ashley, Krutish, Angela, Hartley, Jessica N.

“…Although genetic (counseling) assistants (GAs) have been implemented in many institutions, their roles vary widely. Therefore, this study aimed to refine our…”
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“Learning with each other, about each other”: Interdisciplinary learning among genetic counseling students and clinical health psychology residents by Hartley, Jessica N., Holmqvist, Maxine

“…Interprofessional collaborative healthcare is known to improve provider satisfaction and retention, as well as patient safety and quality of care. The specific…”
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Integrating genetic assistants into the workforce: An 18‐year productivity analysis and development of a staff mix planning tool by Krutish, Angela, Balshaw, Robert F., Jiang, Xuejing, Hartley, Jessica N.

“…In recent years, genetic (counseling) assistants have been integrated in the genetics workforce, such that one‐third of genetic counselors now report working…”
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Insights into genetic assistant practice and the workforce in North America by Krutish, Angela, Liu, Xiao‐Qing, Kelly, Christine, Chin, Shannon R., Hartley, Jessica N.

“…Genetic assistant positions are now widely integrated in genetic services to address genetic counselor shortages and ultimately improve efficiency. While over…”
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A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families by Hartley, Jessica N., Simard, Louise R., Ly, Valentina, Del Bigio, Marc R., Frosk, Patrick

“…Autosomal recessive PRUNE1 mutations are reported to cause a severe neurodevelopmental disorder with microcephaly, hypotonia, and brain malformations. We…”
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Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38 by Uminski, Kelsey, Houston, Donald S., Hartley, Jessica N., Liu, Jing, Cuvelier, Geoffrey D.E., Israels, Sara J.

“…Background Congenital sideroblastic anemia (CSA) constitutes an uncommon category of inherited anemia often associated with pathologic iron accumulation…”
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Exploring the role of a multidisciplinary hereditary gynecologic oncology clinic in epithelial ovarian cancer risk‐reducing surgical decision‐making practices: A mixed‐methods study by Casalino, Selina, Bruce, Sharon, Serfas, Kim, Altman, Alon D., Kean, Sarah, Lambert, Pascal, McManus, Kirk J., Hartley, Jessica N., Nachtigal, Mark W.

“…Individuals that have gynecologic reproductive organs with pathogenic variants in BRCA1 or BRCA2 (“BRCA‐positive”) have an increased risk of developing…”
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Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia by Mhanni, Aizeddin A., Booth, Frances A., Del Bigio, Marc R., Hartley, Jessica N.

“…Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This genetically and…”
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Reflex Seizures in a Patient with CDKL5 Deficiency Disorder by Peikes, Tyler, Hartley, Jessica N, Mhanni, Aizeddin A, Greenberg, Cheryl R, Appendino, Juan Pablo

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Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants by 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

“…The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been…”
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Genetic Counseling in a Busy Pediatric Metabolic Practice by Hartley, Jessica N., Greenberg, Cheryl R., Mhanni, Aizeddin A.

“…Patients with inborn errors of metabolism and their families require unique clinical care including management of acute illnesses, screening for long term…”
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Chromosome microarray and undiagnosed seizures in a pediatric patient by Dawson, Angelika J, Mhanni, Aizeddin A, Booth, Frances A, Seargeant, Lorne, Bernier, Daniele, Tomiuk, Michelle, Hartley, Jessica N, Strecker, Michelle, Hovanes, Karine

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Cover Image, Volume 179A, Number 2, February 2019 by Hartley, Jessica N., Simard, Louise R., Ly, Valentina, Del Bigio, Marc R., Frosk, Patrick

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