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Michael E Talkowski

Showing results (171-180 of 184) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Science (New York, N.Y.)|February 26, 2021
Haplotype-resolved diverse human genomes and integrated analysis of structural variationPeter Ebert, Peter A Audano, Qihui Zhu, et al.
Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature Genetics|January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, et al.
Human Molecular Genetics|January 2, 2014
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypesAnath C Lionel, Kristiina Tammimies, Andrea K Vaags, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
Biorxiv : the Preprint Server for Biology|September 16, 2024
A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective mannerToni A Boltz, Benjamin B Chu, Calwing Liao, et al.
Nature Communications|April 18, 2019
Multi-platform discovery of haplotype-resolved structural variation in human genomesMark J P Chaisson, Ashley D Sanders, Xuefang Zhao, et al.
Nature Genetics|July 8, 2026
A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective mannerToni A Boltz, Benjamin B Chu, Matthew DeFelice, et al.
Pageof 19

Showing results (171-180 of 184) with videos related to

Sort By:
Pageof 19
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Science (New York, N.Y.)|February 26, 2021
Haplotype-resolved diverse human genomes and integrated analysis of structural variationPeter Ebert, Peter A Audano, Qihui Zhu, et al.
Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature Genetics|January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, et al.
Human Molecular Genetics|January 2, 2014
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypesAnath C Lionel, Kristiina Tammimies, Andrea K Vaags, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
Biorxiv : the Preprint Server for Biology|September 16, 2024
A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective mannerToni A Boltz, Benjamin B Chu, Calwing Liao, et al.
Nature Communications|April 18, 2019
Multi-platform discovery of haplotype-resolved structural variation in human genomesMark J P Chaisson, Ashley D Sanders, Xuefang Zhao, et al.
Nature Genetics|July 8, 2026
A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective mannerToni A Boltz, Benjamin B Chu, Matthew DeFelice, et al.
Pageof 19