|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