Volume 20 Issue 12, December 2018

Jim Evans will retire as Editor-in-Chief of Genetics in Medicine December 31st having been in that role since 2006. We thank Jim for all that he has done for the journal, ACMG and the profession of medical genetics. Jim’s contributions have been both wide and deep and he will be greatly missed.

In this Issue

In this issue

James P Evans
In This Issue 19 Dec 2018
Advertisement
In This Issue

Karyn Hede
In This Issue 19 Dec 2018

Top of page ⤴

ACMG Technical Standards

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Shulin Zhang
Annette K. Taylor
C. Sue Richards

Collection:

ACMG Statements and Guidelines
ACMG Technical Standard 05 Oct 2018
Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

J. Daniel Sharer
Irene De Biase
Adviye A. Tolun

Collection:

ACMG Statements and Guidelines
ACMG Technical Standard 19 Oct 2018

Top of page ⤴

Comment

Attention: Direct-To-Consumer patrons: Proceed with caution

Michael J. Friez
Comment 30 Apr 2018
Genome-first findings require precision phenotyping

Monica A. Giovanni
Michael F. Murray
Comment 08 Jun 2018

Top of page ⤴

Invited Comment

Discovery of new susceptibility genes: proceed cautiously

Tobias Else
Lauren Fishbein
Invited Comment 13 Aug 2018

Top of page ⤴

Article

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

Stephany Tandy-Connor
Jenna Guiltinan
Brigette Tippin Davis
Article Open Access 22 Mar 2018
Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays

Nicole Hoppman
Kandelaria Rumilla
Erik Thorland
Article 22 Mar 2018
Phenotypic expansion illuminates multilocus pathogenic variation

Ender Karaca
Jennifer E Posey
James R Lupski
Article 26 Apr 2018
Congenital heart disease and aortic arch variants associated with mutation in PHOX2B

Rachel C Lombardo
Aleksey Porollo
Robert J Hopkin

Focus:

Focus on Vascular Surgery and Cardiology
Article 15 Mar 2018
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial

Kurt D Christensen
Jason L Vassy
Dmitry Dukhovny

Focus:

Focus on Vascular Surgery and Cardiology
Article 22 Mar 2018
Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark
Sebastian Lunke
Susan M White
Article 15 Mar 2018
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Lisa J Ewans
Deborah Schofield
Tony Roscioli
Article 29 Mar 2018
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study

Fabio Girardi
Daniel R Barnes
Antonis C Antoniou

Focus:

Focus on Hematology/Oncology
Article Open Access 22 Mar 2018
Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever

Gernot Kriegshäuser
Dietmar Enko
Tamara Sarkisian
Article 15 Mar 2018
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation

Julie Leclerc
Cathy Flament
Marie-Pierre Buisine

Collections:

Focus on Obstetrics and Gynecology

Focus on Hematology/Oncology
Article 12 Apr 2018
AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

Qiaoning Guan
Jorune Balciuniene
Minjie Luo
Article 29 Mar 2018
Expanding the phenome and variome of skeletal dysplasia

Sateesh Maddirevula
Saud Alsahli
Fowzan S Alkuraya
Article 05 Apr 2018
Measuring coverage and accuracy of whole-exome sequencing in clinical context

Sek Won Kong
In-Hee Lee
Kenneth D Mandl
Article 12 Apr 2018
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Claudine M Kraan
Quang M Bui
David E Godler
Article 29 Mar 2018
Genomic sequencing identifies secondary findings in a cohort of parent study participants

Michelle L Thompson
Candice R Finnila
Gregory M Cooper
Article 12 Apr 2018
Gain-of-function mutations in DNMT3A in patients with paraganglioma

Laura Remacha
Maria Currás-Freixes
Alberto Cascón

Focus:

Focus on Hematology/Oncology
Article 08 May 2018
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

Bruna Calsina
Maria Currás-Freixes
Mercedes Robledo
Article 16 Jul 2018
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Sarah Sheppard
Sawona Biswas
Ian D. Krantz
Article Open Access 15 Jun 2018
Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families

Laurent Castéra
Valentin Harter
Dominique Vaur

Focus:

Focus on Hematology/Oncology
Article 10 Jul 2018

Top of page ⤴

Correspondence

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

Leslie G Biesecker
Steven M Harrison
Correspondence 15 Mar 2018
Response to Biesecker and Harrison

C Sue Richards
Nazneen Aziz
Heidi L Rehm
Correspondence 15 Mar 2018

Top of page ⤴

Correction

Correction: In This Issue

Steve Coleman
Correction 26 Apr 2018
Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders

Yasmin Bylstra
Jyn Ling Kuan
Saumya Shekhar Jamuar
Correction 08 Aug 2018

Top of page ⤴

Volume 20 Issue 12, December 2018

In this Issue

In this issue

In This Issue

ACMG Technical Standards

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Comment

Attention: Direct-To-Consumer patrons: Proceed with caution

Genome-first findings require precision phenotyping

Invited Comment

Discovery of new susceptibility genes: proceed cautiously

Article

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care

Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays

Phenotypic expansion illuminates multilocus pathogenic variation

Congenital heart disease and aortic arch variants associated with mutation in PHOX2B

Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study

Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

Expanding the phenome and variome of skeletal dysplasia

Measuring coverage and accuracy of whole-exome sequencing in clinical context

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Genomic sequencing identifies secondary findings in a cohort of parent study participants

Gain-of-function mutations in DNMT3A in patients with paraganglioma

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families

Correspondence

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

Response to Biesecker and Harrison

Correction

Correction: In This Issue

Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders

Search

Quick links