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1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Article
in English
| MEDLINE | ID: mdl-36669495
2.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Article
in English
| MEDLINE | ID: mdl-35051358
3.
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Brain
; 146(8): 3528-3541, 2023 08 01.
Article
in English
| MEDLINE | ID: mdl-36732302
4.
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
Hum Genet
; 142(3): 379-397, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36538041
5.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Hum Genet
; 142(7): 949-964, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37198333
6.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Article
in English
| MEDLINE | ID: mdl-31735293
7.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31495489
8.
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia.
Neurol Genet
; 7(2): e558, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33928188
9.
Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos.
Dis Model Mech
; 14(11)2021 11 01.
Article
in English
| MEDLINE | ID: mdl-34693978
10.
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist.
Eur J Paediatr Neurol
; 35: 27-34, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34592643
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