Volume 22 Issue 5, May 2020

“I often collect travel ephemera to use when I return to my studio. This collage was created while traveling; it’s composed of found and collected papers from Paris and Greece. I am interested in found text; here, bits of Arabic, Greek, and English.” More of the artist’s work can be seen on Instagram (@bettmakesart) and at http://www.bettyhaskinart.com.

Paris.Aegina | Betty Haskin

In this Issue

In This Issue

Roni Dengler
In This Issue 05 May 2020
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News

News

Roni Dengler
News 05 May 2020

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Article

Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”

Jennifer N. Dines
Brian H. Shirts
Colin C. Pritchard

Focus:

Focus on Hematology/Oncology
Article Open Access 08 Jan 2020
Cost-effectiveness of long-term clinical management of BRCA pathogenic variant carriers

Lara Petelin
Lucinda Hossack
Alison H. Trainer

Focus:

Focus on Hematology/Oncology
Article 30 Jan 2020
Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer

Dana Farengo Clark
Scott T. Michalski
Bryson W. Katona

Focus:

Focus on Hematology/Oncology
Article Open Access 13 Feb 2020
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

Mark Drost
Yvonne Tiersma
Niels de Wind

Focus:

Focus on Hematology/Oncology
Article Open Access 22 Jan 2020
Defining the clinical phenotype of Saul–Wilson syndrome

Carlos R. Ferreira
Wadih M. Zein
Michael B. Bober

Focus:

Focus on Pediatrics
Article 17 Jan 2020
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Sara Cuvertino
Verity Hartill
Siddharth Banka

Collections:

Focus on Neurology

Focus on Pediatrics
Article Open Access 17 Jan 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Christine Shieh
Natasha Jones
Tyler Mark Pierson

Collections:

Focus on Neurology

Focus on Pediatrics
Article 17 Jan 2020
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

Myrthe J. Ottenhoff
André B. Rietman
Ype Elgersma

Collections:

Focus on Neurology

Focus on Pediatrics
Article Open Access 04 Feb 2020
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

Aleena A. Khan
Laura E. Case
Priya S. Kishnani

Collections:

Focus on Neurology

Focus on Pediatrics
Article 06 Jan 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Willemijn J. van Rijt
Emmalie A. Jager
Terry G. J. Derks

Collections:

Focus on Neurology

Focus on Pediatrics
Article Open Access 06 Jan 2020
Interpretation of mitochondrial tRNA variants

Lee-Jun C. Wong
Ting Chen
William J. Craigen

Collections:

Focus on Genomic Variant Interpretation

Focus on Neurology

Focus on Pediatrics
Article 22 Jan 2020
Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing

Stefan Rentas
Komal S. Rathi
Ahmad Abou Tayoun

Collections:

Focus on Neurology

Focus on Pediatrics
Article 08 Jan 2020
Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

Lilian Downie
Jane Halliday
David J. Amor

Collections:

Focus on Public Health

Focus on Pediatrics
Article 24 Jan 2020
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Xiao Chen
Alba Sanchis-Juan
Michael A. Eberle

Collections:

Focus on Public Health

Focus on Neurology

Focus on Pediatrics
Article Open Access 18 Feb 2020
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

Neeta L. Vora
Kelly Gilmore
Bradford C. Powell

Collections:

Focus on Obstetrics and Gynecology

Focus on Pediatrics
Article 24 Jan 2020
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA

Huiwen Che
Darine Villela
Joris Robert Vermeesch

Focus:

Focus on Obstetrics and Gynecology
Article 06 Feb 2020

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Brief Communication

Mobile element insertion detection in 89,874 clinical exomes

Rebecca I. Torene
Kevin Galens
Kyle Retterer
Brief Communication Open Access 22 Jan 2020

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Correction

Correction: Interpretation of mitochondrial tRNA variants

Lee-Jun C. Wong
Ting Chen
William J. Craigen
Correction 05 Mar 2020
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Sara Cuvertino
Verity Hartill
Siddharth Banka
Correction Open Access 23 Mar 2020

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Volume 22 Issue 5, May 2020

In this Issue

In This Issue

News

News

Article

Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”

Cost-effectiveness of long-term clinical management of BRCA pathogenic variant carriers

Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome

Defining the clinical phenotype of Saul–Wilson syndrome

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Interpretation of mitochondrial tRNA variants

Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA

Brief Communication

Mobile element insertion detection in 89,874 clinical exomes

Correction

Correction: Interpretation of mitochondrial tRNA variants

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

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