Volume 20 Issue 8, August 2018

This art was created to represent the increasing role of genetics in perinatal care. The outline of the pregnant woman and strands of DNA symbolize the continued exploration of prenatal whole exome sequencing used clinically.

Review Article

Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development

Neeta L. Vora
Lisa Hui

Collections:

ACMG 2019: Welcoming Dr. Robert Steiner to Genetics in Medicine

GIM's 20th Anniversary Reviews Collection
Review Article 22 Jul 2018
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Invited Comment

Mosaic disorders and the Taxonomy of Human Disease

Leslie G Biesecker
Invited Comment 07 Dec 2017

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Comment

Metaphors matter: from biobank to a library of medical information

Mildred K Cho
Nina Varsava
Sandra S -J Lee
Comment 21 Dec 2017

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Invited Comment

The differential diagnosis of a TP53 genetic testing result

Suzanne P MacFarland
Kara N Maxwell

Focus:

Focus on Hematology/Oncology
Invited Comment 11 Jan 2018

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Article

Somatic TP53 variants frequently confound germ-line testing results

Jeffrey N Weitzel
Elizabeth C Chao
Kory Jasperson

Focus:

Focus on Hematology/Oncology
Article 30 Nov 2017
Informative priors on fetal fraction increase power of the noninvasive prenatal screen

Hanli Xu
Shaowei Wang
Zuhong Lu

Focus:

Focus on Obstetrics and Gynecology
Article Open Access 09 Nov 2017
Prenatal reflex DNA screening for trisomies 21, 18, and 13

Nicholas J Wald
Wayne J Huttly
Zarko Alfirevic

Focus:

Focus on Obstetrics and Gynecology
Article Open Access 09 Nov 2017
Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel

Lisa Feuchtbaum
Juan Yang
Robert Currier
Article 07 Dec 2017
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

Silvia Tortorelli
Jason S Eckerman
Piero Rinaldo
Article Open Access 02 Nov 2017
Precision newborn screening for lysosomal disorders

Melissa M Minter Baerg
Stephanie D Stoway
Piero Rinaldo
Article Open Access 09 Nov 2017
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers

Rashesh V Sanghvi
Christian J Buhay
Nikhil Wagle
Article 16 Nov 2017
Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD

Joël Zlotogora
George P Patrinos
Vardiella Meiner
Article 16 Nov 2017
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

Cheng Xu
Daniele Cassatella
Nelly Pitteloud

Focus:

Focus on Endocrinology
Article 16 Nov 2017
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

Lara Rodriguez-Laguna
Kristina Ibañez
Victor Martinez-Glez
Article 15 Feb 2018

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Brief Communication

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

Daniel D Buchanan
Jenna R Stewart
Aung Ko Win

Focus:

Focus on Gastrointestinal Diseases
Brief Communication 09 Nov 2017

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Volume 20 Issue 8, August 2018

Review Article

Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development

Invited Comment

Mosaic disorders and the Taxonomy of Human Disease

Comment

Metaphors matter: from biobank to a library of medical information

Invited Comment

The differential diagnosis of a TP53 genetic testing result

Article

Somatic TP53 variants frequently confound germ-line testing results

Informative priors on fetal fraction increase power of the noninvasive prenatal screen

Prenatal reflex DNA screening for trisomies 21, 18, and 13

Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

Precision newborn screening for lysosomal disorders

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers

Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

Brief Communication

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

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