| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
|
Wilson, Matthew P.
|
|
|
108 |
11 |
p. 2130-2144
|
artikel
|
| 2 |
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms
|
Shetty, Anamay
|
|
|
108 |
11 |
p. 2071-2085
|
artikel
|
| 3 |
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
|
Hochberg, Irit
|
|
|
108 |
11 |
p. 2195-2204
|
artikel
|
| 4 |
Bonsai: An efficient method for inferring large human pedigrees from genotype data
|
Jewett, Ethan M.
|
|
|
108 |
11 |
p. 2052-2070
|
artikel
|
| 5 |
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
|
Stolz, Jacob R.
|
|
|
108 |
11 |
p. 2206
|
artikel
|
| 6 |
Conceptualization of utility in translational clinical genomics research
|
Smith, Hadley Stevens
|
|
|
108 |
11 |
p. 2027-2036
|
artikel
|
| 7 |
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
|
Gardner, Eugene J.
|
|
|
108 |
11 |
p. 2186-2194
|
artikel
|
| 8 |
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin
|
Domingo, Aloysius
|
|
|
108 |
11 |
p. 2145-2158
|
artikel
|
| 9 |
Establishing risk of vision loss in Leber hereditary optic neuropathy
|
Lopez Sanchez, M. Isabel G.
|
|
|
108 |
11 |
p. 2159-2170
|
artikel
|
| 10 |
Genetic overlap and causality between blood metabolites and migraine
|
Tanha, Hamzeh M.
|
|
|
108 |
11 |
p. 2086-2098
|
artikel
|
| 11 |
Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome
|
Pourtoy-Brasselet, Sandra
|
|
|
108 |
11 |
p. 2171-2185
|
artikel
|
| 12 |
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
|
Danis, Daniel
|
|
|
108 |
11 |
p. 2205
|
artikel
|
| 13 |
Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans
|
Belbin, Gillian M.
|
|
|
108 |
11 |
p. 2099-2111
|
artikel
|
| 14 |
Revisiting the out of Africa event with a deep-learning approach
|
Montinaro, Francesco
|
|
|
108 |
11 |
p. 2037-2051
|
artikel
|
| 15 |
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
|
Motta, Marialetizia
|
|
|
108 |
11 |
p. 2112-2129
|
artikel
|
| 16 |
This month in The Journal
|
Cullinan, Sara B.
|
|
|
108 |
11 |
p. 2025-2026
|
artikel
|
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