March 21, 2023

Individualized Interventions for Rare Genetic Conditions and the Research-Treatment Spectrum: Stakeholder Perspectives

  • Sandra Soo-Jin Lee,
  • Mikaella Caruncho,
  • Wendy K. Chung,
  • Josephine Johnston,
  • Kathryn Tabb,
  • Paul S. Appelbaum
Published online: March 21, 2023
100832

March 16, 2023

Evaluation of an Automated Genome Interpretation Model for Rare Disease Routinely Used in a Clinical Genetic Lab

  • Linyan Meng,
  • Ruben Attali,
  • Tomer Talmy,
  • ...
  • Christine Eng,
  • Fan Xia,
  • Shay Tzur
Published online: March 16, 2023
100830

Micro-costing diagnostic genomic sequencing: a systematic review

  • Francisco Santos Gonzalez,
  • Dylan Mordaunt,
  • Zornitza Stark,
  • Kim Dalziel,
  • John Christodoulou,
  • Ilias Goranitis
Published online: March 16, 2023
100829
Open Access

March 15, 2023

The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

  • Aya Abu-El-Haija,
  • Honey V. Reddi,
  • Hannah Wand,
  • ...
  • Emily Qian,
  • Michael F. Murray
  • on behalf of the ACMG Professional Practice and Guidelines Committee
Published online: March 15, 2023
100803

March 12, 2023

Validation of the International Breast Cancer Intervention Study (IBIS) Model in the High Risk Ontario Breast Screening Program: A Retrospective Cohort Study

  • Jennifer D. Brooks,
  • Ashley Mah,
  • Rebecca A.G. Christensen,
  • Jasleen Arneja,
  • Andrea Eisen,
  • Anna M Chiarelli
Published online: March 12, 2023
100820
Open Access

How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey

  • Chloe Mighton,
  • Marc Clausen,
  • Salma Shickh,
  • ...
  • Ahmed M. Bayoumi,
  • Kevin E. Thorpe,
  • Yvonne Bombard
Published online: March 12, 2023
100819

February 28, 2023

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis

  • Felix Boschann,
  • Muhsin Ö. Cogulu,
  • Davut Pehlivan,
  • ...
  • James R. Lupski,
  • Uwe Kornak,
  • Julia Schmidt
Published online: February 28, 2023
100799
Open Access

February 24, 2023

Cascade testing following exome sequencing: Retrospective analysis of linked family data at two US laboratories

  • Julie Stefka,
  • Haley Streff,
  • Pengfei Liu,
  • Meghan Towne,
  • Hadley Stevens Smith
Published online: February 24, 2023
100818

February 16, 2023

Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

  • Joshua L. Deignan,
  • Mauricio De Castro,
  • Vanessa L. Horner,
  • ...
  • Honey V. Reddi,
  • Marwan K. Tayeh
  • on behalf of the ACMG Laboratory Quality Assurance Committee
Published online: February 16, 2023
100017

February 12, 2023

Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia

  • Deborah Schofield,
  • Evelyn Lee,
  • Jayamala Parmar,
  • Simon Kelly,
  • Matthew Hobbs,
  • Nigel Laing,
  • Jan Mumford
Published online: February 12, 2023
100813
Open Access

January 19, 2023

Exploring Autistic adults’ perspectives on genetic testing for autism

  • Loryn Byres,
  • Emily Morris,
  • Jehannine Austin
Published online: January 19, 2023
100021

October 28, 2022

WITHDRAWN: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

  • Georg F. Vogel,
  • Yael Mozer-Glassberg,
  • Yuval E. Landau,
  • ...
  • Jian-She Wang,
  • Daniel Weghuber,
  • Saskia Wortmann
Published online: October 28, 2022
100314
Open Access
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