no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
1 |
A data-driven evaluation of the size and content of expanded carrier screening panels
|
Ben-Shachar, Rotem |
|
|
21 |
9 |
p. 1931-1939 |
article |
2 |
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
|
Williams, Lloyd B. |
|
|
21 |
9 |
p. 2103-2115 |
article |
3 |
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
|
Chiang, Theodore |
|
|
21 |
9 |
p. 2135-2144 |
article |
4 |
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
|
Ghali, Neeti |
|
|
21 |
9 |
p. 2081-2091 |
article |
5 |
Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders
|
Savarirayan, Ravi |
|
|
21 |
9 |
p. 2070-2080 |
article |
6 |
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
|
Besnard, Thomas |
|
|
21 |
9 |
p. 2025-2035 |
article |
7 |
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools
|
Vasiljevic, Eva |
|
|
21 |
9 |
p. 1969-1976 |
article |
8 |
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
|
Beauchamp, Kyle A. |
|
|
21 |
9 |
p. 1948-1957 |
article |
9 |
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
|
Liang, Desheng |
|
|
21 |
9 |
p. 1998-2006 |
article |
10 |
Commentary: Expanded carrier screening: how much is too much?
|
Wapner, Ronald J. |
|
|
21 |
9 |
p. 1927-1930 |
article |
11 |
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
|
Mucha, Bettina E. |
|
|
21 |
9 |
p. 2159-2160 |
article |
12 |
Correction: Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China
|
Ye, Ziqing |
|
|
21 |
9 |
p. 2163 |
article |
13 |
Correction: Estimating the burden and economic impact of pediatric genetic disease
|
Gonzaludo, Nina |
|
|
21 |
9 |
p. 2161 |
article |
14 |
Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort
|
Zhang, Qingping |
|
|
21 |
9 |
p. 2162 |
article |
15 |
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease
|
Boczonadi, V. |
|
|
21 |
9 |
p. 2163-2164 |
article |
16 |
Correction: Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis
|
Zhang, Lei |
|
|
21 |
9 |
p. 2162-2163 |
article |
17 |
Correction: Putting genome-wide sequencing in neonates into perspective
|
van der Sluijs, Pleuntje J. |
|
|
21 |
9 |
p. 2159-2164 |
article |
18 |
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
|
van der Sluijs, Pleuntje J. |
|
|
21 |
9 |
p. 2160-2161 |
article |
19 |
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat
|
Hafford-Tear, Nathaniel J. |
|
|
21 |
9 |
p. 2092-2102 |
article |
20 |
De novo and biallelic DEAF1 variants cause a phenotypic spectrum
|
Nabais Sá, Maria J. |
|
|
21 |
9 |
p. 2059-2069 |
article |
21 |
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study
|
Germain, Dominique P. |
|
|
21 |
9 |
p. 1987-1997 |
article |
22 |
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
|
Boonsawat, Paranchai |
|
|
21 |
9 |
p. 2043-2058 |
article |
23 |
Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels
|
Guo, Michael H. |
|
|
21 |
9 |
p. 1940-1947 |
article |
24 |
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
|
Arnaud, Pauline |
|
|
21 |
9 |
p. 2015-2024 |
article |
25 |
Impact of NUDT15 genetics on severe thiopurine-related hematotoxicity in patients with European ancestry
|
Schaeffeler, Elke |
|
|
21 |
9 |
p. 2145-2150 |
article |
26 |
In This Issue
|
Dengler, Roni |
|
|
21 |
9 |
p. 1901 |
article |
27 |
News
|
Dengler, Roni |
|
|
21 |
9 |
p. 1902 |
article |
28 |
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
|
Wooderchak-Donahue, Whitney L. |
|
|
21 |
9 |
p. 2007-2014 |
article |
29 |
Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis
|
Zhang, Lei |
|
|
21 |
9 |
p. 1958-1968 |
article |
30 |
Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2
|
Wang, Xia |
|
|
21 |
9 |
p. 2156-2157 |
article |
31 |
Response to Wang et al.
|
Roberts, Maegan E. |
|
|
21 |
9 |
p. 2158 |
article |
32 |
SERPINA1 Z allele is associated with cystic fibrosis liver disease
|
Boëlle, Pierre-Yves |
|
|
21 |
9 |
p. 2151-2155 |
article |
33 |
Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC)
|
Mikhail, Fady M. |
|
|
21 |
9 |
p. 1903-1916 |
article |
34 |
The transformation of medical genetics by clinical genomics: hubris meets humility
|
Grody, Wayne W. |
|
|
21 |
9 |
p. 1916-1926 |
article |
35 |
Toward automation of germline variant curation in clinical cancer genetics
|
Ravichandran, Vignesh |
|
|
21 |
9 |
p. 2116-2125 |
article |
36 |
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders
|
Burrage, Lindsay C. |
|
|
21 |
9 |
p. 1977-1986 |
article |
37 |
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
|
Torti, Erin |
|
|
21 |
9 |
p. 2036-2042 |
article |
38 |
Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis
|
Li, Qigang |
|
|
21 |
9 |
p. 2126-2134 |
article |