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American Journal of Human Genetics
|
July 22, 2025
The evolution of health data ecosystems: An international survey
Jordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
Journal of Human Genetics
|
April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Anna Hammarsjö, Maria Pettersson, David Chitayat, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
March 10, 2023
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, et al.
Nature Neuroscience
|
June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Madeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.
American Journal of Human Genetics
|
October 18, 2016
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, et al.
Genome Medicine
|
December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.
Genome Medicine
|
March 17, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, et al.
Nature Genetics
|
February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Holly A F Stessman, Bo Xiong, Bradley P Coe, et al.
Journal of Internal Medicine
|
July 7, 2026
Genomic Medicine Sweden: Advancing precision medicine at the national level
Anders Edsjö, Anna Lindstrand, Panagiotis Baliakas, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
Adam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.
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Search research articles
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Showing results (111-120 of 127) with videos related to
Sort By:
Page
of 13
American Journal of Human Genetics
|
July 22, 2025
The evolution of health data ecosystems: An international survey
Jordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
Journal of Human Genetics
|
April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Anna Hammarsjö, Maria Pettersson, David Chitayat, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
March 10, 2023
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, et al.
Nature Neuroscience
|
June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Madeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.
American Journal of Human Genetics
|
October 18, 2016
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, et al.
Genome Medicine
|
December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.
Genome Medicine
|
March 17, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, et al.
Nature Genetics
|
February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Holly A F Stessman, Bo Xiong, Bradley P Coe, et al.
Journal of Internal Medicine
|
July 7, 2026
Genomic Medicine Sweden: Advancing precision medicine at the national level
Anders Edsjö, Anna Lindstrand, Panagiotis Baliakas, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
Adam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.
Page
of 13