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August 2020 - Volume 57 - 8
Cancer genetics
Genotype-phenotype correlations
Copy-number variation
Diagnostics
Screening
Cancer genetics
Review: Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation
(9 March, 2020)
Alvaro N
Monteiro
,
Peter
Bouwman
,
Arne N
Kousholt
,
Diana M
Eccles
,
Gael A
Millot
,
Jean-Yves
Masson
,
Marjanka K
Schmidt
,
Shyam K
Sharan
,
Ralph
Scully
,
Lisa
Wiesmüller
,
Fergus
Couch
,
Maaike P G
Vreeswijk
Original research: Variants in
LRRC34
reveal distinct mechanisms for predisposition to papillary thyroid carcinoma
(12 February, 2020)
Free
Daniel Forrest
Comiskey Jr.
,
Huiling
He
,
Sandya
Liyanarachchi
,
Mehek S
Sheikh
,
Luke K
Genutis
,
Isabella V
Hendrickson
,
Lianbo
Yu
,
Pamela L
Brock
,
Albert
de la Chapelle
Short report: Germline
BRCA1
and
BRCA2
testing for breast cancer survivors
(11 September, 2019)
Jennifer
Wiggins
,
Anne
McLoughlin
,
Angela
George
,
Alistair
Ring
,
Zoe
Kemp
Genotype-phenotype correlations
Original research: Investigating the genetic susceptibility to exertional heat illness
(13 February, 2020)
Lois
Gardner
,
Dorota M
Miller
,
Catherine
Daly
,
Pawan K
Gupta
,
Carol
House
,
Daniel
Roiz de Sa
,
Marie-Anne
Shaw
,
Philip M
Hopkins
Original research: Use of a rare disease registry for establishing phenotypic classification of previously unassigned
GLA
variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
(11 March, 2020)
Dominique P
Germain
,
João Paulo
Oliveira
,
Daniel G
Bichet
,
Han-Wook
Yoo
,
Robert J
Hopkin
,
Roberta
Lemay
,
Juan
Politei
,
Christoph
Wanner
,
William R
Wilcox
,
David G
Warnock
Copy-number variation
Original research: Contribution of de novo and inherited rare CNVs to very preterm birth
(12 February, 2020)
Hilary S
Wong
,
Megan
Wadon
,
Alexandra
Evans
,
George
Kirov
,
Neena
Modi
,
Michael C
O'Donovan
,
Anita
Thapar
Diagnostics
Original research: Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort
(31 January, 2020)
Xinran
Dong
,
Bo
Liu
,
Lin
Yang
,
Huijun
Wang
,
Bingbing
Wu
,
Renchao
Liu
,
Hongbo
Chen
,
Xiang
Chen
,
Sha
Yu
,
Bin
Chen
,
Sujuan
Wang
,
Xiu
Xu
,
Wenhao
Zhou
,
Yulan
Lu
Short report: Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp
HBB
deletion
(30 January, 2020)
Xunde
Wang
,
Julia Z
Xu
,
Anna
Conrey
,
Laurel
Mendelsohn
,
Daniel
Shriner
,
Mehdi
Pirooznia
,
Swee Lay
Thein
Screening
Original research: Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting
(19 June, 2020)
Minghui
Bao
,
Ping
Li
,
Qifu
Li
,
Hui
Chen
,
Ying
Zhong
,
Shuangyue
Li
,
Ling
Jin
,
Wenjie
Wang
,
Zhenzhen
Chen
,
Jiuchang
Zhong
,
Bin
Geng
,
Yuxin
Fan
,
Xinchun
Yang
,
Jun
Cai
Issue Information
Table of Contents (PDF)
Front Cover
Editorial Board (PDF)