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Weimin Bi

Showing results (81-90 of 138) with videos related to

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American Journal of Human Genetics|March 16, 2007
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeLorraine Potocki, Weimin Bi, Diane Treadwell-Deering, et al.
Human Molecular Genetics|May 1, 2012
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Avinash V Dharmadhikari, Sung-Hae L Kang, Przemyslaw Szafranski, et al.
Molecular Cell|September 15, 2015
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental DisorderYi-Heng Hao, Michael D Fountain, Klementina Fon Tacer, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27Sirisha Peddibhotla, Sandesh C S Nagamani, Ayelet Erez, et al.
Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
American Journal of Human Genetics|November 4, 2023
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiationJonathan J Rios, Yang Li, Nandina Paria, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
Genome Medicine|November 2, 2016
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomicsMaria Nicla Loviglio, Christine R Beck, Janson J White, et al.
American Journal of Human Genetics|December 2, 2019
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal DysfunctionJulia Wang, Justine Rousseau, Emily Kim, et al.
Pageof 14

Showing results (81-90 of 138) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|March 16, 2007
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeLorraine Potocki, Weimin Bi, Diane Treadwell-Deering, et al.
Human Molecular Genetics|May 1, 2012
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Avinash V Dharmadhikari, Sung-Hae L Kang, Przemyslaw Szafranski, et al.
Molecular Cell|September 15, 2015
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental DisorderYi-Heng Hao, Michael D Fountain, Klementina Fon Tacer, et al.
European Journal of Human Genetics : EJHG|April 17, 2014
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27Sirisha Peddibhotla, Sandesh C S Nagamani, Ayelet Erez, et al.
Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
American Journal of Human Genetics|November 4, 2023
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiationJonathan J Rios, Yang Li, Nandina Paria, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
Genome Medicine|November 2, 2016
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomicsMaria Nicla Loviglio, Christine R Beck, Janson J White, et al.
American Journal of Human Genetics|December 2, 2019
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal DysfunctionJulia Wang, Justine Rousseau, Emily Kim, et al.
Pageof 14