Volume 23 Issue 8, August 2021

News

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

• David T. Miller
• Kristy Lee
• Christa Lese Martin

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

• David T. Miller
• Kristy Lee
• Christa Lese Martin

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

• Catherine Rehder
• Lora J. H. Bean
• Lisa M. Vincent

Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

• Marc Tischkowitz
• Judith Balmaña
• Tuya Pal

Genetic counseling and testing for Asian Americans: a systematic review

• Jennifer L. Young
• Julie Mak
• Holly K. Tabor

Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemic

• Elizabeth G. Brown
• Isabella Watts
• Imran Rafi

Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic

• Adrià López-Fernández
• Guillermo Villacampa
• Judith Balmaña

The 2019 US medical genetics workforce: a focus on clinical genetics

• Brittany D. Jenkins
• Catherine G. Fischer
• Michael S. Watson

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

• Felix Marbach
• Georgi Stoyanov
• Christian P. Schaaf

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

• Paolo Zanoni
• Katharina Steindl
• Anita Rauch

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

• Virginie Carmignac
• Cyril Mignot
• Pierre Vabres

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

• Pia Zacher
• Thomas Mayer
• Johannes R. Lemke

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

• Julie E. Hoover-Fong
• Adekemi Y. Alade
• Michael B. Bober

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

• Eric Legius
• Ludwine Messiaen
• Scott R. Plotkin

Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

• Renkui Bai
• Hong Cui
• Sharon F. Suchy

1-¹³C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

• Irini Manoli
• Alexandra R. Pass
• Charles P. Venditti

Severity modeling of propionic acidemia using clinical and laboratory biomarkers

• Oleg A. Shchelochkov
• Irini Manoli
• Charles P. Venditti

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

• George A. Diaz
• Simon A. Jones
• Catherine Ortemann-Renon

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

• Aida M. Bertoli-Avella
• Krishna K. Kandaswamy
• Peter Bauer

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

• Bart P. G. H. van der Sanden
• Jordi Corominas
• Christian Gilissen

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

• Théo Charnay
• Véronique Blanck
• Martin Krahn

Correspondence on “DOORS syndrome and a recurrent truncating ATP6V1B2 variant” by Beauregard-Lacroix et al.

• Xue Gao
• Pu Dai
• Yong-Yi Yuan

Response to Gao et al.

• Eliane Beauregard-Lacroix
• Philippe M. Campeau

Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

• David T. Miller
• Kristy Lee
• Christa Lese Martin

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

• Virginie Carmignac
• Cyril Mignot
• Pierre Vabres