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Matthew N Bainbridge

Showing results (11-20 of 67) with videos related to

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Journal of Medical Genetics|January 16, 2020
<i>POT1</i> mutation spectrum in tumour types commonly diagnosed among <i>POT1</i>-associated hereditary cancer syndrome familiesErica Shen, Joanne Xiu, Giselle Y Lopez, et al.
Genetics in Medicine Open|June 3, 2024
Clinical variants in <i>Caenorhabditis elegans</i> expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significanceChristopher E Hopkins, Kathryn McCormick, Trisha Brock, et al.
Genome Biology|July 27, 2011
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densitiesMatthew N Bainbridge, Min Wang, Yuanqing Wu, et al.
BMC Biology|July 10, 2008
Transcriptome analysis for Caenorhabditis elegans based on novel expressed sequence tagsHeesun Shin, Martin Hirst, Matthew N Bainbridge, et al.
BMC Genomics|November 9, 2012
Atlas2 Cloud: a framework for personal genome analysis in the cloudUday S Evani, Danny Challis, Jin Yu, et al.
Human Molecular Genetics|January 17, 2020
Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorderChun-An Chen, Rituraj Pal, Jiani Yin, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyriaDavid R Murdock, Gary D Clark, Matthew N Bainbridge, et al.
Pediatric Neurology|October 18, 2024
The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental DisorderKristen Barbour, Matthew N Bainbridge, Kristen Wigby, et al.
The American Journal of Psychiatry|April 9, 2025
Long-Read Genome Sequencing in Clinical Psychiatry: <i>RFX3</i> Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral DecompensationMilad Mortazavi, Sergey Batalov, Jerica Lenberg, et al.
Cold Spring Harbor Molecular Case Studies|March 17, 2017
<i>AIFM1</i> mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infantSarah U Morton, Sanjay P Prabhu, Hart G W Lidov, et al.
Pageof 7

Showing results (11-20 of 67) with videos related to

Sort By:
Pageof 7
Journal of Medical Genetics|January 16, 2020
<i>POT1</i> mutation spectrum in tumour types commonly diagnosed among <i>POT1</i>-associated hereditary cancer syndrome familiesErica Shen, Joanne Xiu, Giselle Y Lopez, et al.
Genetics in Medicine Open|June 3, 2024
Clinical variants in <i>Caenorhabditis elegans</i> expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significanceChristopher E Hopkins, Kathryn McCormick, Trisha Brock, et al.
Genome Biology|July 27, 2011
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densitiesMatthew N Bainbridge, Min Wang, Yuanqing Wu, et al.
BMC Biology|July 10, 2008
Transcriptome analysis for Caenorhabditis elegans based on novel expressed sequence tagsHeesun Shin, Martin Hirst, Matthew N Bainbridge, et al.
BMC Genomics|November 9, 2012
Atlas2 Cloud: a framework for personal genome analysis in the cloudUday S Evani, Danny Challis, Jin Yu, et al.
Human Molecular Genetics|January 17, 2020
Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorderChun-An Chen, Rituraj Pal, Jiani Yin, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyriaDavid R Murdock, Gary D Clark, Matthew N Bainbridge, et al.
Pediatric Neurology|October 18, 2024
The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental DisorderKristen Barbour, Matthew N Bainbridge, Kristen Wigby, et al.
The American Journal of Psychiatry|April 9, 2025
Long-Read Genome Sequencing in Clinical Psychiatry: <i>RFX3</i> Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral DecompensationMilad Mortazavi, Sergey Batalov, Jerica Lenberg, et al.
Cold Spring Harbor Molecular Case Studies|March 17, 2017
<i>AIFM1</i> mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infantSarah U Morton, Sanjay P Prabhu, Hart G W Lidov, et al.
Pageof 7