Search Results - "Carter, Melissa T."

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing by Jiang, Yong-hui, Yuen, Ryan K.C., Jin, Xin, Wang, Mingbang, Chen, Nong, Wu, Xueli, Ju, Jia, Mei, Junpu, Shi, Yujian, He, Mingze, Wang, Guangbiao, Liang, Jieqin, Wang, Zhe, Cao, Dandan, Carter, Melissa T., Chrysler, Christina, Drmic, Irene E., Howe, Jennifer L., Lau, Lynette, Marshall, Christian R., Merico, Daniele, Nalpathamkalam, Thomas, Thiruvahindrapuram, Bhooma, Thompson, Ann, Uddin, Mohammed, Walker, Susan, Luo, Jun, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Ring, Robert H., Wang, Jian, Lajonchere, Clara, Wang, Jun, Shih, Andy, Szatmari, Peter, Yang, Huanming, Dawson, Geraldine, Li, Yingrui, Scherer, Stephen W.

“…Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet the genetic causes remain only partially understood as a result of…”
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PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations by Kannu, Peter, Mahjoub, Areej, Babul-Hirji, Riyana, Carter, Melissa T, Harrington, Jennifer

“…Plastin 3 (PLS3) mutations are associated with an X-linked osteoporosis. Here we describe two new families with novel mutations, including one with a whole…”
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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia by Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M

“…Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The…”
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Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome by Tovy, Ayala, Rosas, Carina, Gaikwad, Amos S, Medrano, Geraldo, Zhang, Linda, Reyes, Jaime M, Huang, Yung-Hsin, Arakawa, Tastuhiko, Kurtz, Kristen, Conneely, Shannon E, Guzman, Anna G, Aguilar, Rogelio, Gao, Anne, Chen, Chun-Wei, Kim, Jean J, Carter, Melissa T, Lasa-Aranzasti, Amaia, Valenzuela, Irene, Van Maldergem, Lionel, Brunetti, Lorenzo, Hicks, M John, Marcogliese, Andrea N, Goodell, Margaret A, Rau, Rachel E

“…Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth disorder caused by germline heterozygous mutations in the DNA methyltransferase DNMT3A. DNMT3A is a…”
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Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia by Huang, Lijia, Warman-Chardon, Jodi, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M

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Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment by Ahmed, Iltaf, Buchert, Rebecca, Zhou, Mi, Jiao, Xinfu, Mittal, Kirti, Sheikh, Taimoor I, Scheller, Ute, Vasli, Nasim, Rafiq, Muhammad Arshad, Brohi, M Qasim, Mikhailov, Anna, Ayaz, Muhammad, Bhatti, Attya, Sticht, Heinrich, Nasr, Tanveer, Carter, Melissa T, Uebe, Steffen, Reis, André, Ayub, Muhammad, John, Peter, Kiledjian, Megerditch, Vincent, John B, Jamra, Rami Abou

“…There are two known mRNA degradation pathways, 3' to 5' and 5' to 3'. We identified likely pathogenic variants in two genes involved in these two pathways in…”
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Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population by Hashemi, Bita, Bassett, Anne, Chitayat, David, Chong, Karen, Feldman, Mark, Flanagan, Janine, Goobie, Sharan, Kawamura, Anne, Lowther, Chelsea, Prasad, Chitra, Siu, Victoria, So, Joyce, Tung, Sharon, Speevak, Marsha, Stavropoulos, Dimitri J., Carter, Melissa T.

“…Microdeletion of the BP1‐BP2 region at 15q11.2 is a recurrent copy number variant (CNV) frequently found in patients undergoing chromosomal microarray (CMA)…”
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Brain Arteriovenous Malformations in Patients With Hereditary Hemorrhagic Telangiectasia: Clinical Presentation and Anatomical Distribution by Saleh, Maha, MD, Carter, Melissa T., MSc, MD, FRCPC, Latino, Giuseppe A., BS, Dirks, Peter, MD, FRCPC, Ratjen, Felix, MD, PhD, FRCPC

“…Abstract Background Hereditary hemorrhagic telangiectasia is an autosomal dominant genetic disease with a wide array of vascular malformations involving…”
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Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals by Carter, Melissa T., St. Pierre, Stephanie A., Zackai, Elaine H., Emanuel, Beverly S., Boycott, Kym M.

“…Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative…”
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Assessing the accuracy of the Modified Checklist for Autism in Toddlers: a systematic review and meta‐analysis by Yuen, Tracy, Penner, Melanie, Carter, Melissa T, Szatmari, Peter, Ungar, Wendy J

“…Aim The Modified Checklist for Autism in Toddlers (M‐CHAT) could be appropriate for universal screening for autism spectrum disorder (ASD) at 18 months and 24…”
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Cost-Effectiveness of Universal or High-Risk Screening Compared to Surveillance Monitoring in Autism Spectrum Disorder by Yuen, Tracy, Carter, Melissa T., Szatmari, Peter, Ungar, Wendy J.

“…The American Academy of Pediatrics recommends universal screening for autism spectrum disorder at 18 and 24 months. This study compared the cost-effectiveness…”
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test by Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R

“…Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard of care is often a time-consuming stepwise approach involving…”
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Whole-genome sequencing of quartet families with autism spectrum disorder by Yuen, Ryan K C, Thiruvahindrapuram, Bhooma, Merico, Daniele, Walker, Susan, Tammimies, Kristiina, Hoang, Ny, Chrysler, Christina, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Liu, Yi, Gazzellone, Matthew J, D'Abate, Lia, Deneault, Eric, Howe, Jennifer L, Liu, Richard S C, Thompson, Ann, Zarrei, Mehdi, Uddin, Mohammed, Marshall, Christian R, Ring, Robert H, Zwaigenbaum, Lonnie, Ray, Peter N, Weksberg, Rosanna, Carter, Melissa T, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W

“…Whole-genome sequencing of 85 families with two affected siblings reveals considerable genetic heterogeneity in autism spectrum disorder. Autism spectrum…”
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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder by Tammimies, Kristiina, Marshall, Christian R, Walker, Susan, Kaur, Gaganjot, Thiruvahindrapuram, Bhooma, Lionel, Anath C, Yuen, Ryan K. C, Uddin, Mohammed, Roberts, Wendy, Weksberg, Rosanna, Woodbury-Smith, Marc, Zwaigenbaum, Lonnie, Anagnostou, Evdokia, Wang, Zhuozhi, Wei, John, Howe, Jennifer L, Gazzellone, Matthew J, Lau, Lynette, Sung, Wilson W. L, Whitten, Kathy, Vardy, Cathy, Crosbie, Victoria, Tsang, Brian, D’Abate, Lia, Tong, Winnie W. L, Luscombe, Sandra, Doyle, Tyna, Carter, Melissa T, Szatmari, Peter, Stuckless, Susan, Merico, Daniele, Stavropoulos, Dimitri J, Scherer, Stephen W, Fernandez, Bridget A

“…IMPORTANCE: The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study. OBJECTIVE: To…”
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Genetic and metabolic investigations for individuals with neurodevelopmental disorders: A survey of Canadian geneticists' practices by Carter, Melissa T., Cloutier, Mireille, Tsampalieros, Anne, Webster, Richard

“…Neurodevelopmental disorders (NDDs) are genetically heterogeneous. There are many possible etiological investigations for NDDs, and a lack of clear and current…”
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Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG) by Carter, Melissa T, Srour, Myriam, Au, Ping-Yee Billie, Buhas, Daniela, Dyack, Sarah, Eaton, Alison, Inbar-Feigenberg, Michal, Howley, Heather, Kawamura, Anne, Lewis, Suzanne M E, McCready, Elizabeth, Nelson, Tanya N, Vallance, Hilary

“…The aim of this position statement is to provide recommendations for clinicians regarding the use of genetic and metabolic investigations for patients with…”
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Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy by Carter, Melissa T., McMillan, Hugh J., Tomin, Andriy, Weiss, Norbert

“…Neuromuscular disorders encompass a wide range of conditions often associated with a genetic component. In the present study, we report a patient with severe…”
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Rett-like Phenotypes in HNRNPH2 -Related Neurodevelopmental Disorder by Gonzalez, Joseph Nicho, Goldman, Sylvie, Carter, Melissa T, Bain, Jennifer M

“…Rett Syndrome (RTT) is a neurodevelopmental disorder with a prevalence of 1:10,000 to 15,000 females worldwide. Classic Rett Syndrome presents in early…”
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The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic by Postma, Julianne K., Harrison, Mary‐Ann, Kutcher, Stephen, Webster, Richard J., Cloutier, Mireille, Bourque, Danielle K., Yu, Andrea C., Carter, Melissa T.

“…First‐tier genetic investigations for patients with neurodevelopmental disorders (NDDs) may include chromosomal microarray, Fragile X testing, and screening…”
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Further clinical delineation of microcephaly‐capillary malformation syndrome by Postma, Julianne K., Zambonin, Jessica L., Khouj, Ebtissal, Alyamani, Suad, Graham, John M., Alkuraya, Fowzan S., Kundell, Stephen, Carter, Melissa T.

“…Microcephaly‐Capillary Malformation syndrome (MIC‐CAP) is a rare genetic disorder reported in 18 individuals to date. The clinical features typically include…”
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