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Michael E Talkowski

Showing results (161-170 of 184) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discoveryJeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.
Neuron|September 25, 2015
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk LociStephan J Sanders, Xin He, A Jeremy Willsey, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Nature Medicine|March 30, 2026
Deleterious coding variation associated with autism is shared across ancestriesMarina Natividad Avila, Seulgi Jung, F Kyle Satterstrom, et al.
Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populationsMarina Natividad Avila, Seulgi Jung, F Kyle Satterstrom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohortKerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
Nature|July 23, 2025
Complex genetic variation in nearly complete human genomesGlennis A Logsdon, Peter Ebert, Peter A Audano, et al.
American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.
American Journal of Human Genetics|April 2, 2024
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.
Pageof 19

Showing results (161-170 of 184) with videos related to

Sort By:
Pageof 19
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Medrxiv : the Preprint Server for Health Sciences|April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discoveryJeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.
Neuron|September 25, 2015
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk LociStephan J Sanders, Xin He, A Jeremy Willsey, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Nature Medicine|March 30, 2026
Deleterious coding variation associated with autism is shared across ancestriesMarina Natividad Avila, Seulgi Jung, F Kyle Satterstrom, et al.
Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populationsMarina Natividad Avila, Seulgi Jung, F Kyle Satterstrom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohortKerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
Nature|July 23, 2025
Complex genetic variation in nearly complete human genomesGlennis A Logsdon, Peter Ebert, Peter A Audano, et al.
American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.
American Journal of Human Genetics|April 2, 2024
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.
Pageof 19