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Fragile X testing as a second-tier test

Taila Hartley, Ryan Potter, Lauren Badalato, Amanda C Smith, Olga Jarinova, Kym M Boycott
2017 Genetics in Medicine  
Smith, PhD 1,2 , Olga Jarinova, PhD 1,2 and Kym M. Boycott, MD, PhD 1,2  ... 
doi:10.1038/gim.2017.147 pmid:28914265 fatcat:ktmmxamcpjdxxjl3lgiuxtzcau

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

Yoko Ito, Taila Hartley, Stephen Baird, Sunita Venkateswaran, Cas Simons, Nicole I. Wolf, Kym M. Boycott, David A. Dyment, Kristin D. Kernohan
2018 Neurology: Genetics  
Scale bars represent 10 μm. Three control fibroblast cell lines were used for these studies.  ...  Scale bars represent 10 μm. Three control fibroblast cell lines were used for these studies.  ...  Boycott: critical revision of manuscript for intellectual content. D.A. Dyment: analysis and interpretation of data, manuscript preparation, and study supervision. K.D.  ... 
doi:10.1212/nxg.0000000000000288 pmid:30643851 pmcid:PMC6317987 fatcat:mdqj2cyxebcyfhrt5cp67anwqy

The defining DNA methylation signature of Floating-Harbor Syndrome

Rebecca L. Hood, Laila C. Schenkel, Sarah M. Nikkel, Peter J. Ainsworth, Guillaume Pare, Kym M. Boycott, Dennis E. Bulman, Bekim Sadikovic
2016 Scientific Reports  
doi:10.1038/srep38803 pmid:27934915 pmcid:PMC5146968 fatcat:ymqlxg4gwvhdraptoenep3gxaa

Next Generation Diagnostics for Rare Neurological Diseases: The Future is Here

A. Micheil Innes, Kym M. Boycott
2014 Canadian Journal of Neurological Sciences  
doi:10.1017/s0317167100017224 fatcat:ogd5eryeqjdm5osl2n2fox7lga

International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases

Kym M Boycott, Lilian PL Lau, Christine M Cutillo, Christopher P Austin
2019 EMBO Molecular Medicine  
The Automatable Discovery and Access (ADA) Task Force created the ADA-Matrix (ADA-M, read as "Adam"), an information model/standard for consent and data use.  ...  ADA-M has been integrated, in whole or in part, by a number of organizations including Australian Genomics Health Alliance and the Solve-RD project, and is being actively evaluated by others including  ... 
doi:10.15252/emmm.201910486 pmid:30979709 pmcid:PMC6505568 fatcat:d75o4h3mj5cllfe5ewe656u5vy

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

Patrick Ferreira, Stephanie M. Luco, Sarah L. Sawyer, Jorge Davila, Kym M. Boycott, David A. Dyment
2015 Neurology: Genetics  
Kym M. Boycott contributed to drafting/revising the manuscript for content, study design, and analysis of data. Dr. David A.  ...  Stephanie M. Luco was involved in drafting/revising the manuscript for content, study design, and interpretation as well as statistical analysis. Dr. Sarah L.  ... 
doi:10.1212/nxg.0000000000000038 pmid:27066576 pmcid:PMC4817904 fatcat:vbuzbyewcbdrvgcihcxcehdb4u

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Michael F. Wangler, Shinya Yamamoto, Hsiao-Tuan Chao, Jennifer E. Posey, Monte Westerfield, John Postlethwait, Philip Hieter, Kym M. Boycott, Philippe M. Campeau, Hugo J. Bellen
2017 Genetics  
Studying human genomic variants in model organisms is facilitated by collaboration between clinicians and model organism researchers (Hieter and Boycott 2014; McGurk et al. 2015; Bonini and Berger 2017  ...  (MOSC, BCM with University of Oregon), one Metabolomics Core (Pacific Northwest National Laboratory with Oregon Health & Science University), and one Coordination Center (Harvard Medical School) M.  ... 
doi:10.1534/genetics.117.203067 pmid:28874452 pmcid:PMC5586389 fatcat:bhaf43bq45dcnnjuoklczpm5ui

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin

Laura M. McDonell, Kristin D. Kernohan, Kym M. Boycott, Sarah L. Sawyer
2015 Human Molecular Genetics  
Receptor tyrosine kinases (RTKs) are a family of ligand-binding cell surface receptors that regulate a wide range of essential cellular activities, including proliferation, differentiation, cell-cycle progression, survival and apoptosis. As such, these proteins play an important role during development and throughout life; germline mutations in genes encoding RTKs cause several developmental syndromes, while somatic alterations contribute to the pathogenesis of many aggressive cancers. This
more » ... tes an interesting paradigm in which mutation timing, type and location in a gene leads to different cell signaling and biological responses, and ultimately phenotypic outcomes. In this review, we highlight the roles of RTKs in developmental disorders and cancer. The multifaceted roles of these receptors, their genetic signatures and their signaling during developmental morphogenesis and oncogenesis are discussed. Additionally, we propose that comparative analysis of RTK mutations responsible for developmental syndromes may shed light on those driving tumorigenesis.
doi:10.1093/hmg/ddv254 pmid:26152202 pmcid:PMC4572000 fatcat:nayfg4jorrdx5g6yinulnfdyym

NovelELOVL4mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)

Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, Lauren LaBerge, Carly Kirshen, Scott H. Bradshaw, Taila Hartley, Kym M. Boycott
2018 Neurology: Genetics  
Boycott: study supervision, critical revision of the manuscript, and overview of genetic data acquisition and interpretation.  ... 
doi:10.1212/nxg.0000000000000263 pmid:30065956 pmcid:PMC6066365 fatcat:56svydx7jvfuldab75wj7d6sau

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

Laura M McDonell, Jodi Warman Chardon, Jeremy Schwartzentruber, Denise Foster, Chandree L Beaulieu, Jacek Majewski, Dennis E Bulman, Kym M Boycott
2014 BMC Neurology  
M F Age at assessment (yrs) 59 56 55 53 Clinical features Height (cm) 158 154 166 154 Height percentile 10-25th <5th 5th 5-10th Occipito-frontal circumference (cm) 48.5 52 51  ...  sign indicates the compound heterozygous mutation present in one reported family Table 1 1 Clinical and neuroimaging features of the four MCPH2 patients Patient II-1 II-2 II-3 II-4 Gender F M  ... 
doi:10.1186/1471-2377-14-22 pmid:24479948 pmcid:PMC3916514 fatcat:dztgjpjag5eknk272z7kwwwtzm

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene

Amanda Smith, Dennis E Bulman, Claire Goldsmith, Eric Bareke, Jacek Majewski, Kym M Boycott, Sarah M Nikkel
2014 European Journal of Human Genetics  
Meconium ileus is most often associated with mutations in the CFTR gene; however recently, mutations in GUCY2C in the Bedouin population have also been shown to result in this phenotype. This gene codes for an intestinal transmembrane receptor that generates cyclic GMP, which activates cystic fibrosis transmembrane receptor. We report a third family that supports the association of variants in the GUCY2C gene with meconium ileus (MI). A Lebanese kindred was studied and individuals affected with
more » ... MI had either homozygous or compound heterozygous variants in GUCY2C. The earliest manifestation of the affected individuals was the presence of second trimester fetal echogenic bowel, thus resulting in the expansion of the differential diagnosis of this ultrasound finding.
doi:10.1038/ejhg.2014.236 pmid:25370039 pmcid:PMC4463511 fatcat:nnmdm22hevdvrdo5cwnsmdlhja

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases

Taila Hartley, Gabrielle Lemire, Kristin D. Kernohan, Heather E. Howley, David R. Adams, Kym M. Boycott
2020 Annual review of genomics and human genetics (Print)  
Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist visits and invasive testing that is lengthy, costly, and often futile, as 50% of patients do not receive a molecular diagnosis. The current diagnostic paradigm is not well designed for RGDs, especially for patients who remain undiagnosed after
more » ... initial set of investigations, and thus requires an expansion of approaches in the clinic. Leveraging opportunities to participate in research programs that utilize new technologies to understand RGDs is an important path forward for patients seeking a diagnosis. Given recent advancements in such technologies and international initiatives, the prospect of identifying a molecular diagnosis for all patients with RGDs has never been so attainable, but achieving this goal will require global cooperation at an unprecedented scale. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 21 is August 31, 2020. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
doi:10.1146/annurev-genom-083118-015345 pmid:32283948 fatcat:inbbm6bzlfdjhcrfbtbud7ppzy

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

Alison Hamilton, Martine Tétreault, David A. Dyment, Ruobing Zou, Kristin Kernohan, Michael T. Geraghty, Taila Hartley, Kym M. Boycott
2016 Molecular Genetics & Genomic Medicine  
Given the steady increase in the number of recognized disease genes (Boycott et al. 2013 ), many with similar or overlapping clinical presentations, the sequencing of individual genes is becoming less  ... 
doi:10.1002/mgg3.223 pmid:27652278 pmcid:PMC5023935 fatcat:jtlufwabfvhhzpmsh3mep76aoi

Homozygous mutations inMFN2cause multiple symmetric lipomatosis associated with neuropathy

Sarah L. Sawyer, Andy Cheuk-Him Ng, A. Micheil Innes, Justin D. Wagner, David A. Dyment, Martine Tetreault, Jacek Majewski, Kym M. Boycott, Robert A. Screaton, Garth Nicholson
2015 Human Molecular Genetics  
Genetic testing for the MERRF mutation (m.8344A>G) was negative in a peripheral blood sample, as were other common mitochondrial mutations (m.3243A>G, m.3260A>G, m.3303C>T and m.8993T>G/C).  ...  Since then, the m.8344A>G mutation associated with MERRF (2,3) and mitochondrial deletions have been identified in a subset of individuals with MSL (4), and conversely, multiple lipomatosis/ lipomas have  ... 
doi:10.1093/hmg/ddv229 pmid:26085578 fatcat:76nz5wlzebbp7pqfrewn7stu3a
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