Volume 19 Issue 9, September 2017

On the cover | “Blue Sicily”

Blue Sicily, by Heather Baudet (acrylic on canvas, 14″ × 20′). “Seascapes and ocean-scapes are a favorite of mine. I tried to capture, in an abstract expressionistic way, the movement of the water over the deep brown rocks along the cliffside.” More of the artist's work can be seen at http://heatherbaudet.com

Commentary

Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23–26 February 2014

Bruce R Korf
Miriam G Blitzer
Michael S Watson
Commentary Open Access 27 Apr 2017
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In This Issue

In This Issue

In This Issue 06 Sept 2017

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News Briefs

News Briefs

News Briefs 06 Sept 2017

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Invited Commentary

CDH1 germline mutations: different syndromes, same management?

Patrick R Benusiglio
Invited Commentary 20 Apr 2017

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Special Article

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Margaret M. McGovern
Carlo Dionisi-Vici
Melissa P. Wasserstein
Special Article Open Access 13 Apr 2017
Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1

Scott D. Grosse
Wendy K.K. Lam
Alex R. Kemper
Special Article 26 Jan 2017

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Original Research Article

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

Matthias Zielonka
Sven F. Garbade
Markus Ries
Original Research Article 06 Apr 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz
Judith St-Onge
Jean-Baptiste Rivière
Original Research Article 02 Feb 2017
A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes

Moran Gershoni
Ron Hauser
Sandra E. Kleiman
Original Research Article 16 Feb 2017
Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort

Iris Lianne Maas
Petra Brüggemann
Christopher R. Cederroth
Original Research Article Open Access 23 Mar 2017
Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

Jamal Ghoumid
Morgane Stichelbout
Sylvie Manouvrier-Hanu
Original Research Article 16 Mar 2017
Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China

Jing He
Wenhui Song
Baosheng Zhu

Focus:

Focus on Hematology/Oncology
Original Research Article 26 Jan 2017
Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example

Niall Davison
Katherine Payne
Georgina Hall

Focus:

Focus on Ophthalmology
Original Research Article 16 Mar 2017
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

Dustin Baldridge
Jennifer Heeley
Marwan Shinawi
Original Research Article 02 Mar 2017
Promoting appropriate genetic testing: the impact of a combined test review and consultative service

Carlos J. Suarez
Linbo Yu
David A. Stevenson
Original Research Article 26 Jan 2017
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Lisenka E.L.M. Vissers
Kirsten J.M. van Nimwegen
Michèl A.A.P. Willemsen

Focus:

Focus on Neurology
Original Research Article Open Access 23 Mar 2017
The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome

Jessica Ross
Jasmina Bojadzieva
Louise Strong

Focus:

Focus on Hematology/Oncology
Original Research Article 16 Mar 2017
Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells

Mahrukh M. Syeda
Kinnari Upadhyay
Harry Ostrer

Focus:

Focus on Hematology/Oncology
Original Research Article 16 Mar 2017

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Volume 19 Issue 9, September 2017

Commentary

Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23–26 February 2014

In This Issue

In This Issue

News Briefs

News Briefs

Invited Commentary

CDH1 germline mutations: different syndromes, same management?

Special Article

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1

Original Research Article

Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes

Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort

Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China

Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

Promoting appropriate genetic testing: the impact of a combined test review and consultative service

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

The psychosocial effects of the Li-Fraumeni Education and Early Detection (LEAD) program on individuals with Li-Fraumeni syndrome

Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells

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