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Michael E Talkowski

Showing results (151-160 of 184) with videos related to

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Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Nature|December 6, 2023
A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Laurent C Francioli, Julia K Goodrich, et al.
Cell|February 24, 2018
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome AssemblyTatsiana Aneichyk, William T Hendriks, Rachita Yadav, et al.
Biorxiv : the Preprint Server for Biology|September 8, 2025
Aberrant recursive splicing in a human disease locusPhilip M Boone, Ricardo Harripaul, Rachita Yadav, et al.
Nature|August 11, 2015
Mutations in DCHS1 cause mitral valve prolapseRonen Durst, Kimberly Sauls, David S Peal, et al.
Science Translational Medicine|May 24, 2019
Primary cilia defects causing mitral valve prolapseKatelynn A Toomer, Mengyao Yu, Diana Fulmer, et al.
Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Nature Genetics|April 28, 2018
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorderDonna M Werling, Harrison Brand, Joon-Yong An, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and DatasetBenjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
Pageof 19

Showing results (151-160 of 184) with videos related to

Sort By:
Pageof 19
Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Nature|December 6, 2023
A genomic mutational constraint map using variation in 76,156 human genomesSiwei Chen, Laurent C Francioli, Julia K Goodrich, et al.
Cell|February 24, 2018
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome AssemblyTatsiana Aneichyk, William T Hendriks, Rachita Yadav, et al.
Biorxiv : the Preprint Server for Biology|September 8, 2025
Aberrant recursive splicing in a human disease locusPhilip M Boone, Ricardo Harripaul, Rachita Yadav, et al.
Nature|August 11, 2015
Mutations in DCHS1 cause mitral valve prolapseRonen Durst, Kimberly Sauls, David S Peal, et al.
Science Translational Medicine|May 24, 2019
Primary cilia defects causing mitral valve prolapseKatelynn A Toomer, Mengyao Yu, Diana Fulmer, et al.
Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Nature Genetics|April 28, 2018
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorderDonna M Werling, Harrison Brand, Joon-Yong An, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and DatasetBenjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
Pageof 19