Melissa T. Carter
Melissa T. Carter
Associate Professor of Pediatrics, University of Ottawa
Verified email at
Cited by
Cited by
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
RKC Yuen, D Merico, M Bookman, JL Howe, B Thiruvahindrapuram, ...
Nature neuroscience 20 (4), 602-611, 2017
Whole-genome sequencing of quartet families with autism spectrum disorder
RKC Yuen, B Thiruvahindrapuram, D Merico, S Walker, K Tammimies, ...
Nature medicine 21 (2), 185-191, 2015
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
Y Jiang, RKC Yuen, X Jin, M Wang, N Chen, X Wu, J Ju, J Mei, Y Shi, ...
The American Journal of Human Genetics 93 (2), 249-263, 2013
Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder
K Tammimies, CR Marshall, S Walker, G Kaur, B Thiruvahindrapuram, ...
Jama 314 (9), 895-903, 2015
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ...
Genetics in Medicine 20 (4), 435-443, 2018
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
DJ Stavropoulos, D Merico, R Jobling, S Bowdin, N Monfared, ...
NPJ genomic medicine 1 (1), 1-9, 2016
Autism spectrum disorder in the genetics clinic: a review
MT Carter, SW Scherer
Clinical genetics 83 (5), 399-407, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
G Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ...
The American Journal of Human Genetics 92 (2), 210-220, 2013
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ...
Human molecular genetics 23 (10), 2752-2768, 2014
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
L Huang, JW Chardon, MT Carter, KL Friend, TE Dudding, ...
Orphanet journal of rare diseases 7 (1), 1-7, 2012
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ...
JCI insight 1 (9), 2016
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome
LM McDonell, GM Mirzaa, D Alcantara, J Schwartzentruber, MT Carter, ...
Nature genetics 45 (5), 556-562, 2013
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals
MT Carter, SA St. Pierre, EH Zackai, BS Emanuel, KM Boycott
American journal of medical genetics Part A 149 (8), 1712-1721, 2009
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study
GM Mirzaa, V Conti, AE Timms, CD Smyser, S Ahmed, M Carter, S Barnett, ...
The Lancet Neurology 14 (12), 1182-1195, 2015
Conservation of RET proto-oncogene splicing variants and implications for RET isoform function
MT Carter, JL Yome, MN Marcil, CA Martin, JB Vanhorne, LM Mulligan
Cytogenetic and Genome Research 95 (3-4), 169-176, 2001
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
MT Carter, SM Nikkel, BA Fernandez, CR Marshall, A Noor, AC Lionel, ...
Clinical genetics 80 (5), 435-443, 2011
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder
A Chaudhry, A Noor, B Degagne, K Baker, LA Bok, AF Brady, D Chitayat, ...
Clinical genetics 88 (3), 224-233, 2015
A large data resource of genomic copy number variation across neurodevelopmental disorders
M Zarrei, CL Burton, W Engchuan, EJ Young, EJ Higginbotham, ...
NPJ genomic medicine 4 (1), 1-13, 2019
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment
I Ahmed, R Buchert, M Zhou, X Jiao, K Mittal, TI Sheikh, U Scheller, ...
Human molecular genetics 24 (11), 3172-3180, 2015
Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11. 2 deletions and CHD8 variants
MT Siu, DT Butcher, AL Turinsky, C Cytrynbaum, DJ Stavropoulos, ...
Clinical epigenetics 11 (1), 1-19, 2019
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