Volume 16 Issue 1, January 2014

In This Issue

In This Issue

Gary Stobbe
Yajuan Liu
Fuki M. Hisama
In This Issue 06 Jan 2014
Advertisement

Top of page ⤴

News Briefs

News Briefs

News Briefs 06 Jan 2014

Top of page ⤴

Original Research Article

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes

Cecilia Canzonieri
Laura Centenara
Carla Olivieri
Original Research Article 30 May 2013
Public preferences regarding informed consent models for participation in population-based genomic research

Jodyn Platt
Juli Bollinger
David Kaufman
Original Research Article 09 May 2013
Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency

Anna Murray
Minouk J. Schoemaker
Anthony J. Swerdlow
Original Research Article Open Access 23 May 2013
Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders

C. Sue Richards
Glenn E. Palomaki
Gerald L. Feldman
Original Research Article 23 May 2013
The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia

Scott D. Grosse
Sheree L. Boulet
Marie E. Faughnan
Original Research Article 23 May 2013
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome

Evelyn Ning Man Cheung
Susan R. George
Anne S. Bassett
Original Research Article 13 Jun 2013
Effectiveness of oncogenetics training on general practitioners’ consultation skills: a randomized controlled trial

Elisa J.F. Houwink
Arno M.M. Muijtjens
Martina C. Cornel
Original Research Article Open Access 30 May 2013
Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome

Siddharth Prakash
Dongchuan Guo
Carolyn A. Bondy
Original Research Article 06 Jun 2013
A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians

Maren T. Scheuner
Alison B. Hamilton
Elizabeth M. Yano
Original Research Article 13 Jun 2013
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders

Gary Stobbe
Yajuan Liu
Fuki M. Hisama
Original Research Article 13 Jun 2013
Parents’ interest in whole-genome sequencing of newborns

Aaron J. Goldenberg
Daniel S. Dodson
Beth A. Tarini
Original Research Article 06 Jun 2013
Variations in predicted risks in personal genome testing for common complex diseases

Rachel R.J. Kalf
Raluca Mihaescu
A. Cecile J.W. Janssens
Original Research Article 27 Jun 2013
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Fady M. Mikhail
Rachel D. Burnside
Andrew J. Carroll
Original Research Article 13 Jun 2013

Top of page ⤴

ACMG Standards and Guidelines

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

Madhuri Hegde
Mathew Ferber
Arupa Ganguly

Collection:

ACMG Statements and Guidelines
ACMG Standards and Guidelines 05 Dec 2013

Top of page ⤴

Corrigendum

Correction: Corrigendum: Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome

Siddharth Prakash
Dongchuan Guo
Carolyn A. Bondy
Corrigendum 06 Jan 2014

Top of page ⤴

Volume 16 Issue 1, January 2014

In This Issue

In This Issue

News Briefs

News Briefs

Original Research Article

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes

Public preferences regarding informed consent models for participation in population-based genomic research

Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders

The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia

Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome

Effectiveness of oncogenetics training on general practitioners’ consultation skills: a randomized controlled trial

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome

A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians

Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders

Parents’ interest in whole-genome sequencing of newborns

Variations in predicted risks in personal genome testing for common complex diseases

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

ACMG Standards and Guidelines

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)

Corrigendum

Correction: Corrigendum: Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome

Search

Quick links