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Annals of Neurology
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November 19, 2025
Large Class of Neurodevelopmental Disorders Requires Genome Sequencing for Diagnosis
Seth I Berger, Anne O'Donnell-Luria
Clinical Genetics
|
October 25, 2025
Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome
Rowena Ng, Anne O'Donnell-Luria, Jacqueline Harris
American Journal of Medical Genetics. Part A
|
July 5, 2025
Delineating the Cognitive Profile of ODLURO Syndrome: Emergent Clues on the Endophenotype Across KMT2 Disorders
Rowena Ng, Anne O'Donnell-Luria, Jacqueline Harris
JAMA
|
August 31, 2019
Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations
Nicola Whiffin, James S Ware, Anne O'Donnell-Luria
Human Genetics
|
February 4, 2023
Interpreting variants in genes affected by clonal hematopoiesis in population data
Sanna Gudmundsson, Colleen M Carlston, Anne O'Donnell-Luria
Annual Review of Genomics and Human Genetics
|
May 21, 2026
Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease
Laura E Covill, Lindsay Romo, Anne O'Donnell-Luria
Journal of Intellectual Disability Research : JIDR
|
August 5, 2025
Academic Learning Profiles Across Disorders of KMT2 Gene Family: Superimposed and Distinct Features Across Kabuki, Wiedemann-Steiner and ODLURO Syndromes
Rowena Ng, Lauren Meier, Anne O'Donnell-Luria, et al.
Frontiers in Genetics
|
July 5, 2021
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
Eleanor G Seaby, Heidi L Rehm, Anne O'Donnell-Luria
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
|
February 27, 2026
Session Introduction: Precision Medicine: Integrating Large-Scale Data and Intermediate Phenotypes for Understanding Health and Treating Disease
Steven E Brenner, Nilah M Ioannidis, Tayo Obafemi-Ajayi, et al.
Genetics in Medicine Open
|
September 6, 2024
First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing
Sarah L Stenton, Madelynn Campagna, Anthony Philippakis, et al.
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Search research articles
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Showing results (1-10 of 166) with videos related to
Sort By:
Page
of 17
Annals of Neurology
|
November 19, 2025
Large Class of Neurodevelopmental Disorders Requires Genome Sequencing for Diagnosis
Seth I Berger, Anne O'Donnell-Luria
Clinical Genetics
|
October 25, 2025
Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome
Rowena Ng, Anne O'Donnell-Luria, Jacqueline Harris
American Journal of Medical Genetics. Part A
|
July 5, 2025
Delineating the Cognitive Profile of ODLURO Syndrome: Emergent Clues on the Endophenotype Across KMT2 Disorders
Rowena Ng, Anne O'Donnell-Luria, Jacqueline Harris
JAMA
|
August 31, 2019
Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations
Nicola Whiffin, James S Ware, Anne O'Donnell-Luria
Human Genetics
|
February 4, 2023
Interpreting variants in genes affected by clonal hematopoiesis in population data
Sanna Gudmundsson, Colleen M Carlston, Anne O'Donnell-Luria
Annual Review of Genomics and Human Genetics
|
May 21, 2026
Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease
Laura E Covill, Lindsay Romo, Anne O'Donnell-Luria
Journal of Intellectual Disability Research : JIDR
|
August 5, 2025
Academic Learning Profiles Across Disorders of KMT2 Gene Family: Superimposed and Distinct Features Across Kabuki, Wiedemann-Steiner and ODLURO Syndromes
Rowena Ng, Lauren Meier, Anne O'Donnell-Luria, et al.
Frontiers in Genetics
|
July 5, 2021
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
Eleanor G Seaby, Heidi L Rehm, Anne O'Donnell-Luria
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
|
February 27, 2026
Session Introduction: Precision Medicine: Integrating Large-Scale Data and Intermediate Phenotypes for Understanding Health and Treating Disease
Steven E Brenner, Nilah M Ioannidis, Tayo Obafemi-Ajayi, et al.
Genetics in Medicine Open
|
September 6, 2024
First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing
Sarah L Stenton, Madelynn Campagna, Anthony Philippakis, et al.
Page
of 17