Volume 21 Issue 7, July 2019

News

• Roni Dengler

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Secondary research uses of residual newborn screening dried bloodspots: a scoping review

• Erin Rothwell
• Erin Johnson
• Jeffrey R. Botkin

Lessons learned from two decades of BRCA1 and BRCA2 genetic testing: the evolution of data sharing and variant classification

• Amanda E. Toland
• Lawrence C. Brody

Lessons learned from the DFNA37 gene discovery odyssey

• Zohreh Talebizadeh

Protecting trust in medical genetics in the new era of forensics

• Caitlin Curtis
• James Hereward
• John Devereux

A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

• Mark Drost
• Yvonne Tiersma
• Sean V. Tavtigian

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

• Kristy Lee
• Bryce A. Seifert
• Fergus J. Couch

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

• Bryce A. Seifert
• Jennifer L. McGlaughon
• Matthew J. Ferber

A somatic activating NRAS variant associated with kaposiform lymphangiomatosis

• Sarah F. Barclay
• Kyle W. Inman
• Kyle C. Kurek

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing

• D. Gareth Evans
• Andrew T. King
• Miriam J. Smith

Qualitative study of system-level factors related to genomic implementation

• Alexis M. Zebrowski
• Darcy E. Ellis
• Stephen E. Kimmel

Experiences and perspectives on the return of secondary findings among genetic epidemiologists

• Catherine M. Stein
• Roselle Ponsaran
• Aaron J. Goldenberg

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

• Jiaqi Liu
• Nan Wu
• Guixing Qiu

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

• Ellen H. J. van den Bogaard
• Michel van Geel
• Patrick L. J. M. Zeeuwen

Frequency of de novo variants and parental mosaicism in vascular Ehlers–Danlos syndrome

• Anne Legrand
• Magali Devriese
• Xavier Jeunemaitre

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

• Kate L. Thomson
• Elizabeth Ormondroyd
• Hugh C. Watkins

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

• Cole A. Deisseroth
• Johannes Birgmeier
• Gill Bejerano

Pathogenic TERT promoter variants in telomere diseases

• Fernanda Gutierrez-Rodrigues
• Flávia S. Donaires
• Neal S. Young

Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing

• Wenbo Mu
• Bing Li
• Hsiao-Mei Lu

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

• Hui Guo
• Michael H. Duyzend
• Evan E. Eichler

Atypical cerebral palsy: genomics analysis enables precision medicine

• Allison M. Matthews
• Ingrid Blydt-Hansen
• Clara D. van Karnebeek

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

• Kohei Hamanaka
• Satoko Miyatake
• Naomichi Matsumoto

27 years of prenatal diagnosis for Huntington disease in the United Kingdom

• Raul E. Piña-Aguilar
• Sheila A. Simpson
• Zosia Miedzybrodzka

Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease

• Thomas J. Langan
• Joseph J. Orsini
• Randy L. Carter

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum

• Lisa T. Emrick
• Jill A. Rosenfeld
• Brendan Lee

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

• Ange-Line Bruel
• Antonio Vitobello
• Christel Thauvin-Robinet

Personalized medicine: paradigm shift or revolution

• Priya Hays

On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure

• Carlotta Spagnoli
• Daniele Frattini
• Carlo Fusco

Response to Spagnoli et al.

• Dominic Lenz
• Christian Staufner

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

• Juliette Piard
• Lara Hawkes
• Christophe Philippe

Correction: Analysis of fetal DNA in maternal plasma with markers designed for forensic DNA mixture resolution

• Amandine Moriot
• Diana Hall

Correction: Toward automation of germline variant curation in clinical cancer genetics

• Vignesh Ravichandran
• Zarina Shameer
• Joseph Vijai

Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

• Marcy E. Richardson
• Hansook Chong
• Aaron Elliott

Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages

• Leigh Jackson
• Anita O’Connor
• Martina C. Cornel

Correction: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions

• N. T. Leach
• D. R. Wilson Mathews
• R. A. Heim

Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network

• Kenneth D. Levy
• Kathryn Blake
• Geoffrey S. Ginsburg

Correction to: The landscape of epilepsy-related GATOR1 variants

• Sara Baldassari
• Fabienne Picard
• Stéphanie Baulac