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Michael E Talkowski

Showing results (81-90 of 184) with videos related to

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Biorxiv : the Preprint Server for Biology|July 3, 2023
A marker chromosome in psychosis identifies glycine decarboxylase (GLDC) as a novel regulator of neuronal and synaptic function in the hippocampusMaltesh Kambali, Yan Li, Petr Unichenko, et al.
Human Genetics|January 29, 2013
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palateAmelia M Lindgren, Tatiana Hoyos, Michael E Talkowski, et al.
American Journal of Human Genetics|October 4, 2014
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disordersHarrison Brand, Vamsee Pillalamarri, Ryan L Collins, et al.
The Journal of Experimental Medicine|April 15, 2021
Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcriptLara Wahlster, Jeffrey M Verboon, Leif S Ludwig, et al.
Nature Communications|July 2, 2025
Loss of CFHR5 function reduces the risk for age-related macular degenerationMary Pat Reeve, Stephanie Loomis, Eija Nissilä, et al.
Cell|September 2, 2022
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 triosMarta Byrska-Bishop, Uday S Evani, Xuefang Zhao, et al.
Nature Immunology|October 22, 2025
Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related diseaseCelina Nguyen, Emily H Broersma, Anna S Warden, et al.
Journal of the Royal Society of New Zealand|August 4, 2025
Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New ZealandSuzanne M Musgrave, Juliet Taylor, Whitney Whitford, et al.
Nature Communications|June 10, 2022
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorderElaine T Lim, Yingleong Chan, Pepper Dawes, et al.
American Journal of Human Genetics|May 5, 2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca, Christelle Golzio, Katrin Männik, et al.
Pageof 19

Showing results (81-90 of 184) with videos related to

Sort By:
Pageof 19
Biorxiv : the Preprint Server for Biology|July 3, 2023
A marker chromosome in psychosis identifies glycine decarboxylase (GLDC) as a novel regulator of neuronal and synaptic function in the hippocampusMaltesh Kambali, Yan Li, Petr Unichenko, et al.
Human Genetics|January 29, 2013
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palateAmelia M Lindgren, Tatiana Hoyos, Michael E Talkowski, et al.
American Journal of Human Genetics|October 4, 2014
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disordersHarrison Brand, Vamsee Pillalamarri, Ryan L Collins, et al.
The Journal of Experimental Medicine|April 15, 2021
Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcriptLara Wahlster, Jeffrey M Verboon, Leif S Ludwig, et al.
Nature Communications|July 2, 2025
Loss of CFHR5 function reduces the risk for age-related macular degenerationMary Pat Reeve, Stephanie Loomis, Eija Nissilä, et al.
Cell|September 2, 2022
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 triosMarta Byrska-Bishop, Uday S Evani, Xuefang Zhao, et al.
Nature Immunology|October 22, 2025
Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related diseaseCelina Nguyen, Emily H Broersma, Anna S Warden, et al.
Journal of the Royal Society of New Zealand|August 4, 2025
Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New ZealandSuzanne M Musgrave, Juliet Taylor, Whitney Whitford, et al.
Nature Communications|June 10, 2022
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorderElaine T Lim, Yingleong Chan, Pepper Dawes, et al.
American Journal of Human Genetics|May 5, 2015
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca, Christelle Golzio, Katrin Männik, et al.
Pageof 19