| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('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
|
artikel
|
| 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
|
artikel
|
| 3 |
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
|
Chiang, Theodore
|
|
|
21 |
9 |
p. 2135-2144
|
artikel
|
| 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
|
artikel
|
| 5 |
Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders
|
Savarirayan, Ravi
|
|
|
21 |
9 |
p. 2070-2080
|
artikel
|
| 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
|
artikel
|
| 7 |
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools
|
Vasiljevic, Eva
|
|
|
21 |
9 |
p. 1969-1976
|
artikel
|
| 8 |
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
|
Beauchamp, Kyle A.
|
|
|
21 |
9 |
p. 1948-1957
|
artikel
|
| 9 |
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
|
Liang, Desheng
|
|
|
21 |
9 |
p. 1998-2006
|
artikel
|
| 10 |
Commentary: Expanded carrier screening: how much is too much?
|
Wapner, Ronald J.
|
|
|
21 |
9 |
p. 1927-1930
|
artikel
|
| 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
|
artikel
|
| 12 |
Correction: Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China
|
Ye, Ziqing
|
|
|
21 |
9 |
p. 2163
|
artikel
|
| 13 |
Correction: Estimating the burden and economic impact of pediatric genetic disease
|
Gonzaludo, Nina
|
|
|
21 |
9 |
p. 2161
|
artikel
|
| 14 |
Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort
|
Zhang, Qingping
|
|
|
21 |
9 |
p. 2162
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 17 |
Correction: Putting genome-wide sequencing in neonates into perspective
|
van der Sluijs, Pleuntje J.
|
|
|
21 |
9 |
p. 2159-2164
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 20 |
De novo and biallelic DEAF1 variants cause a phenotypic spectrum
|
Nabais Sá, Maria J.
|
|
|
21 |
9 |
p. 2059-2069
|
artikel
|
| 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
|
artikel
|
| 22 |
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
|
Boonsawat, Paranchai
|
|
|
21 |
9 |
p. 2043-2058
|
artikel
|
| 23 |
Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels
|
Guo, Michael H.
|
|
|
21 |
9 |
p. 1940-1947
|
artikel
|
| 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
|
artikel
|
| 25 |
Impact of NUDT15 genetics on severe thiopurine-related hematotoxicity in patients with European ancestry
|
Schaeffeler, Elke
|
|
|
21 |
9 |
p. 2145-2150
|
artikel
|
| 26 |
In This Issue
|
Dengler, Roni
|
|
|
21 |
9 |
p. 1901
|
artikel
|
| 27 |
News
|
Dengler, Roni
|
|
|
21 |
9 |
p. 1902
|
artikel
|
| 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
|
artikel
|
| 29 |
Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis
|
Zhang, Lei
|
|
|
21 |
9 |
p. 1958-1968
|
artikel
|
| 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
|
artikel
|
| 31 |
Response to Wang et al.
|
Roberts, Maegan E.
|
|
|
21 |
9 |
p. 2158
|
artikel
|
| 32 |
SERPINA1 Z allele is associated with cystic fibrosis liver disease
|
Boëlle, Pierre-Yves
|
|
|
21 |
9 |
p. 2151-2155
|
artikel
|
| 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
|
artikel
|
| 34 |
The transformation of medical genetics by clinical genomics: hubris meets humility
|
Grody, Wayne W.
|
|
|
21 |
9 |
p. 1916-1926
|
artikel
|
| 35 |
Toward automation of germline variant curation in clinical cancer genetics
|
Ravichandran, Vignesh
|
|
|
21 |
9 |
p. 2116-2125
|
artikel
|
| 36 |
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders
|
Burrage, Lindsay C.
|
|
|
21 |
9 |
p. 1977-1986
|
artikel
|
| 37 |
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
|
Torti, Erin
|
|
|
21 |
9 |
p. 2036-2042
|
artikel
|
| 38 |
Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis
|
Li, Qigang
|
|
|
21 |
9 |
p. 2126-2134
|
artikel
|
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