| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
|
Lemire, Gabrielle
|
|
|
108 |
10 |
p. 2017-2023
|
artikel
|
| 2 |
A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer
|
Jermusyk, Ashley
|
|
|
108 |
10 |
p. 1852-1865
|
artikel
|
| 3 |
An integrated approach to identify environmental modulators of genetic risk factors for complex traits
|
Balliu, Brunilda
|
|
|
108 |
10 |
p. 1866-1879
|
artikel
|
| 4 |
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
|
Richard, Elodie M.
|
|
|
108 |
10 |
p. 2006-2016
|
artikel
|
| 5 |
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
|
Caputo, Sandrine M.
|
|
|
108 |
10 |
p. 1907-1923
|
artikel
|
| 6 |
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome
|
Mahyari, Eisa
|
|
|
108 |
10 |
p. 1924-1945
|
artikel
|
| 7 |
Fast two-stage phasing of large-scale sequence data
|
Browning, Brian L.
|
|
|
108 |
10 |
p. 1880-1890
|
artikel
|
| 8 |
Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia
|
Kachuri, Linda
|
|
|
108 |
10 |
p. 1823-1835
|
artikel
|
| 9 |
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
|
Mitani, Tadahiro
|
|
|
108 |
10 |
p. 1981-2005
|
artikel
|
| 10 |
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network
|
Mukherjee, Souhrid
|
|
|
108 |
10 |
p. 1946-1963
|
artikel
|
| 11 |
Improved pathogenicity prediction for rare human missense variants
|
Wu, Yingzhou
|
|
|
108 |
10 |
p. 1891-1906
|
artikel
|
| 12 |
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene
|
Qiao, Lu
|
|
|
108 |
10 |
p. 1964-1980
|
artikel
|
| 13 |
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
|
|
|
|
108 |
10 |
p. 2024
|
artikel
|
| 14 |
The National Academies’ Roundtable on Genomics and Precision Health: Where we have been and where we are heading
|
Ginsburg, Geoffrey S.
|
|
|
108 |
10 |
p. 1817-1822
|
artikel
|
| 15 |
The risks of using unapproved gene symbols
|
Braschi, Bryony
|
|
|
108 |
10 |
p. 1813-1816
|
artikel
|
| 16 |
This month in The Journal
|
Ratzel, Sarah
|
|
|
108 |
10 |
p. 1811-1812
|
artikel
|
| 17 |
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program
|
Mikhaylova, Anna V.
|
|
|
108 |
10 |
p. 1836-1851
|
artikel
|
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