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Showing 1–6 of 6 results

Advanced filters: Author: Rebecca Torene Clear advanced filters

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

In a cohort of patients with cerebral arachnoid cysts, multiomic analyses reveal de novo variants causing genetic neurodevelopmental conditions in up to 16% of cases, suggesting that surgery in these cases may not improve non-mass effect-related symptoms.

Adam J. Kundishora
Garrett Allington
Kristopher T. Kahle
Research06 Mar 2023
Nature Medicine

Volume: 29, P: 667-678
Evidence for 28 genetic disorders discovered by combining healthcare and research data

By integrating healthcare and exome-sequencing data from parent–offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified.

Joanna Kaplanis
Kaitlin E. Samocha
Kyle Retterer
Research14 Oct 2020
Nature

Volume: 586, P: 757-762
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

Analysis of autosomal recessive coding variants in 29,745 trios from the DDD study and GeneDx provides insights into the genetic architecture of developmental disorders across ancestrally diverse populations.

V. Kartik Chundru
Zhancheng Zhang
Hilary C. Martin
ResearchOpen Access23 Sept 2024
Nature Genetics

Volume: 56, P: 2046-2053
Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report

Natalie Deuitch
Shao-Tzu Li
Joanne Ngeow
ResearchOpen Access25 Aug 2020
Human Genome Variation

Volume: 7, P: 1-4
Mobile element insertion detection in 89,874 clinical exomes

Rebecca I. Torene
Kevin Galens
Kyle Retterer
ResearchOpen Access22 Jan 2020
Genetics in Medicine

Volume: 22, P: 974-978
Uniparental disomy in a population of 32,067 clinical exome trios

Julie Scuffins
Jennifer Keller-Ramey
Kyle Retterer
ResearchOpen Access25 Jan 2021
Genetics in Medicine

Volume: 23, P: 1101-1107