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Helen V Firth

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Nature Genetics|August 2, 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.

Nature Genetics|July 2, 2021

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.

Genetics in Medicine Open|January 17, 2025

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.

The New England Journal of Medicine|September 12, 2008

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.

Nucleic Acids Research|November 12, 2023

The Human Phenotype Ontology in 2024: phenotypes around the worldMichael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.

Cell Genomics|January 24, 2022

GA4GH: International policies and standards for data sharing across genomic research and healthcareHeidi L Rehm, Angela J H Page, Lindsay Smith, et al.

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Search research articles

Showing results (111-120 of 116) with videos related to

Sort By:

Pageof 12

You have reached the last page of results.This site can display upto 116 results.

Nature Genetics|August 2, 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.

Nature Genetics|July 2, 2021

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.

Genetics in Medicine Open|January 17, 2025

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.

The New England Journal of Medicine|September 12, 2008

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.

Nucleic Acids Research|November 12, 2023

The Human Phenotype Ontology in 2024: phenotypes around the worldMichael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.

Cell Genomics|January 24, 2022

GA4GH: International policies and standards for data sharing across genomic research and healthcareHeidi L Rehm, Angela J H Page, Lindsay Smith, et al.

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