Volume 17 Issue 8, August 2015

On the cover | Nancy Marple

“Tales Long Gone”

Tales Long Gone. This mixed-media painting by Nancy Marple continues a series focusing on our heritage. It is a complex painting in which the layers of paint and charcoal recall layers of time. Rich colors, multiple textures, and solid shapes represent messages. The messages are stories from our own families and legends from long ago. More of the artist’s work can be seen at http://www.nancymarple.com.

In This Issue

In this Issue

In This Issue 04 Aug 2015

Advertisement

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News Briefs

News Briefs

News Briefs 04 Aug 2015

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Review

Practical guidelines for managing adults with 22q11.2 deletion syndrome

Wai Lun Alan Fung
Nancy J. Butcher
Anne S. Bassett
Review 08 Jan 2015
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations

Lucie Evenepoel
Thomas G. Papathomas
Winand N.M. Dinjens
Review 13 Nov 2014

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Commentary

The hidden harm behind the return of results from personal genome services: a need for rigorous and responsible evaluation

A. Cecile J.W. Janssens
Commentary 20 Nov 2014

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Original Research Article

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

Kyle Retterer
Julie Scuffins
Eden Haverfield
Original Research Article Open Access 06 Nov 2014
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer

Kara N. Maxwell
Bradley Wubbenhorst
Katherine L. Nathanson
Original Research Article 11 Dec 2014
Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease

Badri N. Vardarajan
Daniel J. Schaid
Richard P. Mayeux
Original Research Article 13 Nov 2014
Researchers’ views on informed consent for return of secondary results in genomic research

Paul S. Appelbaum
Abby Fyer
Wendy K. Chung
Original Research Article 11 Dec 2014
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Carine Villanueva
Elka Jacobson-Dickman
Nelly Pitteloud
Original Research Article 13 Nov 2014
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

Peter J. Shepard
Bruce A. Barshop
Kelly A. Frazer
Original Research Article Open Access 06 Nov 2014

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Systematic Review

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

Ellen Otten
Mirjam Plantinga
Irene M. Van Langen
Systematic Review 11 Dec 2014

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Letter to the Editor

Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease

Gisela Nogales-Gadea
Tomàs Pinós
Alejandro Lucia
Letter to the Editor 04 Aug 2015
Response to Nogales-Gadea et al.

Mauricio De Castro
Leslie G. Biesecker
Letter to the Editor 04 Aug 2015
In sickness and in health: context matters when considering potential benefits and risks of genome-wide sequencing

Kimberly A. Strong
Thomas May
Shawn A. Levy
Letter to the Editor 04 Aug 2015
Response to Strong

Wylie Burke
H Gilbert Welch
Letter to the Editor 04 Aug 2015
Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

Sonia Mayo
Mónica Roselló
Francisco Martínez
Letter to the Editor 04 Aug 2015
A PMS2-specific colorectal surveillance guideline

Sanne W. ten Broeke
Maartje Nielsen
Letter to the Editor 04 Aug 2015
Response to ten Broeke and Nielsen

Noralane M. Lindor
McKinsey L. Goodenberger
Letter to the Editor 04 Aug 2015

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Corrigendum

Correction: Corrigendum: Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Corrigendum 04 Aug 2015

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Volume 17 Issue 8, August 2015

In This Issue

In this Issue

News Briefs

News Briefs

Review

Practical guidelines for managing adults with 22q11.2 deletion syndrome

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations

Commentary

The hidden harm behind the return of results from personal genome services: a need for rigorous and responsible evaluation

Original Research Article

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer

Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease

Researchers’ views on informed consent for return of secondary results in genomic research

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

Systematic Review

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature

Letter to the Editor

Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease

Response to Nogales-Gadea et al.

In sickness and in health: context matters when considering potential benefits and risks of genome-wide sequencing

Response to Strong

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

A PMS2-specific colorectal surveillance guideline

Response to ten Broeke and Nielsen

Corrigendum

Correction: Corrigendum: Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

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