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Anath C. Lionel
Anath C. Lionel
Department of Lymphoma and Myeloma, The University of Texas MD Anderson Cancer Center
E-mail confirmado em medportal.ca
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Functional impact of global rare copy number variation in autism spectrum disorders
D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ...
Nature 466 (7304), 368-372, 2010
23272010
Structural variation of chromosomes in autism spectrum disorder
CR Marshall, A Noor, JB Vincent, AC Lionel, L Feuk, J Skaug, M Shago, ...
The American Journal of Human Genetics 82 (2), 477-488, 2008
21452008
Subgroup-specific structural variation across 1,000 medulloblastoma genomes
PA Northcott, DJH Shih, J Peacock, L Garzia, A Sorana Morrissy, ...
Nature 488 (7409), 49-56, 2012
9692012
A genome-wide scan for common alleles affecting risk for autism
R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ...
Human molecular genetics 19 (20), 4072-4082, 2010
7222010
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
5272018
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
D Pinto, K Darvishi, X Shi, D Rajan, D Rigler, T Fitzgerald, AC Lionel, ...
Nature biotechnology 29 (6), 512-520, 2011
4822011
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
4192015
Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity
M Meyer, J Reimand, X Lan, R Head, X Zhu, M Kushida, J Bayani, ...
Proceedings of the National Academy of Sciences 112 (3), 851-856, 2015
4162015
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
AC Lionel, J Crosbie, N Barbosa, T Goodale, B Thiruvahindrapuram, ...
Science translational medicine 3 (95), 95ra75-95ra75, 2011
4102011
SHANK1 deletions in males with autism spectrum disorder
D Sato, AC Lionel, CS Leblond, A Prasad, D Pinto, S Walker, I O'Connor, ...
The American Journal of Human Genetics 90 (5), 879-887, 2012
3912012
Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13. 3
NM Williams, B Franke, E Mick, RJL Anney, CM Freitag, M Gill, A Thapar, ...
American Journal of Psychiatry 169 (2), 195-204, 2012
3492012
Rare deletions at the neurexin 3 locus in autism spectrum disorder
AK Vaags, AC Lionel, D Sato, MK Goodenberger, QP Stein, S Curran, ...
The American Journal of Human Genetics 90 (1), 133-141, 2012
2602012
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
A Noor, A Whibley, CR Marshall, PJ Gianakopoulos, A Piton, AR Carson, ...
Science translational medicine 2 (49), 49ra68-49ra68, 2010
2482010
A discovery resource of rare copy number variations in individuals with autism spectrum disorder
A Prasad, D Merico, B Thiruvahindrapuram, J Wei, AC Lionel, D Sato, ...
G3: Genes| Genomes| Genetics 2 (12), 1665-1685, 2012
2172012
Copy number variations and risk for schizophrenia in 22q11. 2 deletion syndrome
AS Bassett, CR Marshall, AC Lionel, EWC Chow, SW Scherer
Human molecular genetics 17 (24), 4045-4053, 2008
2082008
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways
CK Silversides, AC Lionel, G Costain, D Merico, O Migita, B Liu, T Yuen, ...
Public Library of Science 8 (8), e1002843, 2012
1992012
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
AC Lionel, AK Vaags, D Sato, MJ Gazzellone, EB Mitchell, HY Chen, ...
Human molecular genetics 22 (10), 2055-2066, 2013
1832013
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
1802014
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
1762013
Rare copy number variants contribute to congenital left-sided heart disease
MP Hitz, LP Lemieux-Perreault, C Marshall, Y Feroz-Zada, R Davies, ...
Public Library of Science 8 (9), e1002903, 2012
1632012
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