Genetics in Medicine

Volume 21 Issue 4, April 2019

I started painting late in life and find it the most satisfying work I’ve ever done. I love the time I spend, usually very early in the morning, totally immersed in the struggle to create. You can see my work at the Hillsborough Gallery of Arts in Hillsborough, NC.

Blown Away | Marcy Lansman

Volume 21 Issue 4

In this Issue

In This Issue

Raye Alford
In This Issue 01 Apr 2019
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News

News

Raye Alford
News 01 Apr 2019

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ACMG Policy Statement

Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Karen L. David
Robert G. Best
Reed E. Pyeritz

Collection:

ACMG Statements and Guidelines
ACMG Policy Statement 22 Dec 2018

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ACMG Practice Resources

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Priya S. Kishnani
Jennifer Goldstein
Michael S. Watson

Collection:

ACMG Statements and Guidelines
ACMG Practice Resource 19 Jan 2019

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Review Article

The evolving landscape of expanded carrier screening: challenges and opportunities

Stephanie A. Kraft
Devan Duenas
Katrina A. B. Goddard

Collections:

ACMG 2019: Welcoming Dr. Robert Steiner to Genetics in Medicine

GIM's 20th Anniversary Reviews Collection

Focus on Obstetrics and Gynecology
Review Article Open Access 24 Sept 2018
Insights into genetics, human biology and disease gleaned from family based genomic studies

Jennifer E. Posey
Anne H. O’Donnell-Luria
James R. Lupski

Collections:

ACMG 2019: Welcoming Dr. Robert Steiner to Genetics in Medicine

GIM's 20th Anniversary Reviews Collection
Review Article 18 Jan 2019

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Comment

The physician–patient relationship in the age of precision medicine

Gil Eyal
Maya Sabatello
Paul S. Appelbaum

Collection:

Ethical, Legal, and Social Issues
Comment 14 Sept 2018

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Article

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo
Matthew Jensen
Santhosh Girirajan
Article Open Access 07 Sept 2018
CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies

Hongcai Cai
Xingrong Qing
Xuejun Shang

Focus:

Focus on Obstetrics and Gynecology
Article Open Access 14 Sept 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot
Aoife C. McMahon
Christel Depienne
Article Open Access 12 Sept 2018
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Joanna Kennedy
David Goudie
Ruth Newbury-Ecob
Article 24 Sept 2018
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization

Celeste Eno
Pinar Bayrak-Toydemir
Joshua L. Deignan
Article 14 Sept 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska
Tom Callens
Ludwine M. Messiaen

Focus:

Focus on Neurology
Article Open Access 07 Sept 2018
Mosaic Turner syndrome shows reduced penetrance in an adult population study

Marcus A. Tuke
Katherine S. Ruth
Anna Murray
Article Open Access 05 Sept 2018
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

Zoheb B. Kazi
Ankit K. Desai
Priya S. Kishnani
Article 14 Sept 2018
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia

Gang Peng
Peidong Shen
Curt Scharfe
Article Open Access 13 Sept 2018
Frequency and signature of somatic variants in 1461 human brain exomes

Wei Wei
Michael J. Keogh
Patrick F. Chinnery

Focus:

Focus on Neurology
Article Open Access 14 Sept 2018
Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility

Simone M. Rowley
Lyon Mascarenhas
Ian G. Campbell

Focus:

Focus on Hematology/Oncology
Article 26 Sept 2018
Use of a novel computerized decision aid for aneuploidy screening: a randomized controlled trial

Laura M. Carlson
Sarah Harris
Neeta L. Vora

Focus:

Focus on Obstetrics and Gynecology
Article 14 Sept 2018
ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure

Clémence Delcour
Larbi Amazit
Isabelle Beau

Focus:

Focus on Obstetrics and Gynecology
Article 19 Sept 2018
A new clinical screening strategy and prevalence estimation for glucokinase variant-induced diabetes in an adult Chinese population

Yumin Ma
Xueyao Han
Linong Ji
Article 24 Sept 2018
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Kevin T. Booth
James W. Askew
Shelley D. Smith
Article Open Access 24 Sept 2018
Developing a genetic services assessment tool to inform quality improvement efforts in state genetic service delivery

Ann F. Chou
John Mulvihill
Lori Williamson
Article 14 Sept 2018
Giving adolescents a voice: the types of genetic information adolescents choose to learn and why

Josie Pervola
Melanie F. Myers
Cynthia A. Prows

Focus:

Focus on Pediatrics
Article 29 Oct 2018
Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples

Erica K. Barnell
Peter Ronning
Obi L. Griffith

Focus:

Focus on Hematology/Oncology
Article Open Access 05 Oct 2018
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

Matthew Neil Wakeling
Thomas William Laver
Sian Ellard
Article Open Access 03 Oct 2018

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Special Article

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Laura V. Milko
Birgit H. Funke
Jonathan S. Berg
Special Article 05 Sept 2018

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Education Report

Increasing genomic literacy among adolescents

Maya Sabatello
Ying Chen
Paul S. Appelbaum
Education Report 14 Sept 2018

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Brief Communication

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

Miriam S. Reuter
Rebekah Jobling
Anne S. Bassett

Focus:

Focus on Vascular Surgery and Cardiology
Brief Communication Open Access 20 Sept 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

F. Tran Mau-Them
L. Guibaud
A. Vitobello

Focus:

Focus on Neurology
Brief Communication 31 Aug 2018
Low-level parental mosaicism affects the recurrence risk of holoprosencephaly

Ping Hu
Ariel F. Martinez
Maximilian Muenke
Brief Communication 10 Sept 2018
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Gregory Costain
Bert Callewaert
M. Stephen Meyn

Focus:

Focus on Neurology
Brief Communication 08 Oct 2018

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Correction

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Omar Hikmat
Charalampos Tzoulis
Shamima Rahman
Correction 19 Sept 2018
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van de Sompele
Claire Smith
Elfride De Baere
Correction Open Access 03 Jan 2019

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