Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11. 2 in individuals ascertained for diagnosis of autism spectrum …
…, S Meyn, P Szatmari, AM Joseph-George… - Journal of medical …, 2010 - jmg.bmj.com
Background Recurrent microdeletions and microduplications of ∼555 kb at 16p11.2 confer
susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or …
susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or …
Genome assembly comparison identifies structural variants in the human genome
…, J Zhang, JR MacDonald, Y He, AM Joseph-George… - Nature …, 2006 - nature.com
Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations
such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from …
such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from …
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data
resource that integrates whole genome sequencing data and health information. We describe …
resource that integrates whole genome sequencing data and health information. We describe …
Indexing effects of copy number variation on genes involved in developmental delay
…, E Lemyre, S Nizard, M Shago, AM Joseph-George… - Scientific reports, 2016 - nature.com
A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting
a gene or multiple genes will manifest as disease. Increasing recognition of gene dosage …
a gene or multiple genes will manifest as disease. Increasing recognition of gene dosage …
Warsaw breakage syndrome: Further clinical and genetic delineation
…, SK Bharti, AM Joseph‐George… - American Journal of …, 2018 - Wiley Online Library
Warsaw breakage syndrome (WBS) is a recently recognized DDX11‐related rare
cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, …
cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, …
Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant
…, R Mendoza-Londono, AM Joseph-George - Molecular …, 2018 - Springer
Background Complex genomic structural variations, involving chromoanagenesis, have
been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial …
been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial …
Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions
AM Joseph-George, Y He, CR Marshall… - Journal of medical …, 2011 - jmg.bmj.com
Background There are four known pericentromeric euchromatic variants of chromosome 9
in the literature that are increasingly being observed in diagnostic cytogenetic laboratories. …
in the literature that are increasingly being observed in diagnostic cytogenetic laboratories. …
Complete functional rescue of the ABCA1−/− mouse by human BAC transgenesis
…, JC Fruchart, C Fievet, AM Joseph-George… - Journal of lipid …, 2005 - ASBMB
Humanized mouse models are useful tools to explore the functional and regulatory differences
between human and murine orthologous genes. We have combined a bioinformatics …
between human and murine orthologous genes. We have combined a bioinformatics …
Williams-Beuren Syndrome Diagnosis Using Fluorescence In Situ Hybridization
LR Osborne, AM Joseph-George… - Congenital Heart Disease …, 2006 - Springer
Williams-Beuren syndrome (WBS) is most commonly caused by a 1.5-Mb hemizygous deletion
of chromosome 7q11.23. Other genomic rearrangements of this region have also been …
of chromosome 7q11.23. Other genomic rearrangements of this region have also been …
MuLV-related endogenous retroviral elements and Flt3 participate in aberrant end-joining events that promote B-cell leukemogenesis
…, L Nutter, RCC Wong, AM Joseph-George… - Genes & …, 2014 - genesdev.cshlp.org
During V(D)J recombination of immunoglobulin genes, p53 and nonhomologous end-joining
(NHEJ) suppress aberrant rejoining of DNA double-strand breaks induced by recombinase-…
(NHEJ) suppress aberrant rejoining of DNA double-strand breaks induced by recombinase-…