Monday, July 16, 2018

Genetics in Medicine contents: Volume 20, Issue 7

Genetics in Medicine

Volume 20, Issue 7

In this issue
ACMG Practice Guidelines
ACMG Technical Standards
ACMG Practice Guidelines
Invited Comment
Special Article
Also new
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ACMG Practice Guidelines

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Douglas R Stewart, Bruce R Korf, Katherine L Nathanson, David A Stevenson & Kaleb Yohay

Genetics in Medicine 2018 20 :671 - 682; April 26, 2018; 10.1038/gim.2018.28


Abstract | Full Text

ACMG Technical Standards

Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Renata C Gallagher, Laura Pollard, Anna I Scott, Suzette Huguenin, Stephen Goodman et al.

Genetics in Medicine 2018 20 :683 - 691; March 15, 2018; 10.1038/gim.2018.45


Abstract | Full Text

ACMG Practice Guidelines

Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Lynn W Bush, Louis E Bartoshesky, Karen L David, Benjamin Wilfond, Janet L Williams et al.

Genetics in Medicine 2018 20 :692 - 694; March 22, 2018; 10.1038/gim.2018.36


Abstract | Full Text

Invited Comment

Is prenatal genomic testing ready for prime time?

Margaret P Adam

Genetics in Medicine 2018 20 :695 - 696; March 22, 2018; 10.1038/gim.2018.5


Abstract | Full Text


Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics

Zirui Dong, Huilin Wang, Haixiao Chen, Hui Jiang, Jianying Yuan et al.

Genetics in Medicine 2017 20 :697 - 707; November 02, 2017; 10.1038/gim.2017.170


Abstract | Full Text

A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

Sandesh C S Nagamani, Umang Agarwal, Allison Tam, Mahshid Azamian, Ann McMeans et al.

Genetics in Medicine 2017 20 :708 - 716; October 12, 2017; 10.1038/gim.2017.167


Abstract | Full Text

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Dorien Baetens, Tülay Güran, Berenice B Mendonca, Nathalia L Gomes, Lode De Cauwer et al.

Genetics in Medicine 2017 20 :717 - 727; October 26, 2017; 10.1038/gim.2017.163


Abstract | Full Text

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

Franziska Simm, Anne Griesbeck, Daniela Choukair, Birgit Weiß, Nagarajan Paramasivam et al.

Genetics in Medicine 2017 20 :728 - 736; October 26, 2017; 10.1038/gim.2017.165


Abstract | Full Text

Pathways from autism spectrum disorder diagnosis to genetic testing

Krysta S Barton, Holly K Tabor, Helene Starks, Nanibaa’ A Garrison, Mercy Laurino et al.

Genetics in Medicine 2017 20 :737 - 744; October 19, 2017; 10.1038/gim.2017.166


Abstract | Full Text

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Sarah Boissel, Catherine Fallet-Bianco, David Chitayat, Valérie Kremer, Christina Nassif et al.

Genetics in Medicine 2017 20 :745 - 753; October 26, 2017; 10.1038/gim.2017.173


Abstract | Full Text

Low frequency of Fabry disease in patients with common heart disease

Raphael Schiffmann, Caren Swift, Nathan McNeill, Elfrida R Benjamin, Jeffrey P Castelli et al.

Genetics in Medicine 2017 20 :754 - 759; October 26, 2017; 10.1038/gim.2017.175


Abstract | Full Text

The who, what, and why of research participants’ intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study

Christine Rini, Cynthia M Khan, Elizabeth Moore, Myra I Roche, James P Evans et al.

Genetics in Medicine 2017 20 :760 - 769; October 26, 2017; 10.1038/gim.2017.176


Abstract | Full Text

RET somatic mutations are underrecognized in Hirschsprung disease

Qian Jiang, Fang Liu, Chunyue Miao, Qi Li, Zhen Zhang et al.

Genetics in Medicine 2017 20 :770 - 777; October 26, 2017; 10.1038/gim.2017.178


Abstract | Full Text

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

Muhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, Periklis Makrythanasis, Sohail Aziz Paracha et al.

Genetics in Medicine 2017 20 :778 - 784; August 24, 2017; 10.1038/gim.2017.113


Abstract | Full Text

Special Article

School liaison program supporting children with neurofibromatosis type 1: a model of care for children with chronic disease

Meredith A Chambers, David T Miller & Nicole J Ullrich

Genetics in Medicine 2017 20 :785 - 788; October 26, 2017; 10.1038/gim.2017.177


Abstract | Full Text


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