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Michael E Talkowski

Showing results (131-140 of 184) with videos related to

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Neuron|July 18, 2023
Phenotype and genetic analysis of data collected within the first year of NeuroDevPatricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, et al.
Biorxiv : the Preprint Server for Biology|April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomesKatherine R Chao, Lily Wang, Ruchit Panchal, et al.
Cell Reports|April 9, 2020
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal CortexDonna M Werling, Sirisha Pochareddy, Jinmyung Choi, et al.
Cell|April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundariesMichael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, et al.
Arxiv|January 7, 2025
GREGoR: Accelerating Genomics for Rare DiseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
American Journal of Human Genetics|July 10, 2012
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomaliesHyung-Goo Kim, Hyun-Taek Kim, Natalia T Leach, et al.
Biological Psychiatry|April 25, 2006
Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samplesMichael E Talkowski, Howard Seltman, Anne S Bassett, et al.
JAMA Neurology|July 24, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in PolymicrogyriaShyam K Akula, Allen Y Chen, Jennifer E Neil, et al.
Science (New York, N.Y.)|December 15, 2018
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorderJoon-Yong An, Kevin Lin, Lingxue Zhu, et al.
Nature|November 12, 2025
GREGoR: accelerating genomics for rare diseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
Pageof 19

Showing results (131-140 of 184) with videos related to

Sort By:
Pageof 19
Neuron|July 18, 2023
Phenotype and genetic analysis of data collected within the first year of NeuroDevPatricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, et al.
Biorxiv : the Preprint Server for Biology|April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomesKatherine R Chao, Lily Wang, Ruchit Panchal, et al.
Cell Reports|April 9, 2020
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal CortexDonna M Werling, Sirisha Pochareddy, Jinmyung Choi, et al.
Cell|April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundariesMichael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, et al.
Arxiv|January 7, 2025
GREGoR: Accelerating Genomics for Rare DiseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
American Journal of Human Genetics|July 10, 2012
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomaliesHyung-Goo Kim, Hyun-Taek Kim, Natalia T Leach, et al.
Biological Psychiatry|April 25, 2006
Evaluation of a susceptibility gene for schizophrenia: genotype based meta-analysis of RGS4 polymorphisms from thirteen independent samplesMichael E Talkowski, Howard Seltman, Anne S Bassett, et al.
JAMA Neurology|July 24, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in PolymicrogyriaShyam K Akula, Allen Y Chen, Jennifer E Neil, et al.
Science (New York, N.Y.)|December 15, 2018
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorderJoon-Yong An, Kevin Lin, Lingxue Zhu, et al.
Nature|November 12, 2025
GREGoR: accelerating genomics for rare diseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
Pageof 19