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American Journal of Human Genetics
|
October 4, 2014
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders
Harrison 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 transcript
Lara Wahlster, Jeffrey M Verboon, Leif S Ludwig, et al.
Nature Communications
|
June 14, 2020
Functional annotation of rare structural variation in the human brain
Lide Han, Xuefang Zhao, Mary Lauren Benton, et al.
American Journal of Human Genetics
|
March 31, 2021
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
Xuefang Zhao, Ryan L Collins, Wan-Ping Lee, et al.
Circulation
|
December 28, 2018
Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction
Amit V Khera, Mark Chaffin, Seyedeh M Zekavat, et al.
American Journal of Human Genetics
|
March 8, 2024
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
Derek J C Tai, Parisa Razaz, Serkan Erdin, et al.
American Journal of Human Genetics
|
May 29, 2018
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes
Christina Halgren, Nete M Nielsen, Lusine Nazaryan-Petersen, et al.
Nature
|
March 26, 2015
Loss of δ-catenin function in severe autism
Tychele N Turner, Kamal Sharma, Edwin C Oh, et al.
American Journal of Human Genetics
|
September 24, 2022
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
Derek J C Tai, Parisa Razaz, Serkan Erdin, et al.
American Journal of Human Genetics
|
October 18, 2016
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
Zehra Ordulu, Tammy Kammin, Harrison Brand, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 54) with videos related to
Sort By:
Page
of 6
American Journal of Human Genetics
|
October 4, 2014
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders
Harrison 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 transcript
Lara Wahlster, Jeffrey M Verboon, Leif S Ludwig, et al.
Nature Communications
|
June 14, 2020
Functional annotation of rare structural variation in the human brain
Lide Han, Xuefang Zhao, Mary Lauren Benton, et al.
American Journal of Human Genetics
|
March 31, 2021
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
Xuefang Zhao, Ryan L Collins, Wan-Ping Lee, et al.
Circulation
|
December 28, 2018
Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction
Amit V Khera, Mark Chaffin, Seyedeh M Zekavat, et al.
American Journal of Human Genetics
|
March 8, 2024
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
Derek J C Tai, Parisa Razaz, Serkan Erdin, et al.
American Journal of Human Genetics
|
May 29, 2018
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes
Christina Halgren, Nete M Nielsen, Lusine Nazaryan-Petersen, et al.
Nature
|
March 26, 2015
Loss of δ-catenin function in severe autism
Tychele N Turner, Kamal Sharma, Edwin C Oh, et al.
American Journal of Human Genetics
|
September 24, 2022
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
Derek J C Tai, Parisa Razaz, Serkan Erdin, et al.
American Journal of Human Genetics
|
October 18, 2016
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
Zehra Ordulu, Tammy Kammin, Harrison Brand, et al.
Page
of 6