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1.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Am J Hum Genet
; 108(2): 337-345, 2021 02 04.
Article
in English
| MEDLINE | ID: mdl-33434492
2.
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Hum Mol Genet
; 31(1): 1-9, 2021 12 17.
Article
in English
| MEDLINE | ID: mdl-33693784
3.
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Genet Med
; 24(11): 2262-2273, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36112137
4.
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.
Proc Natl Acad Sci U S A
; 115(51): 13015-13020, 2018 12 18.
Article
in English
| MEDLINE | ID: mdl-30510006
5.
Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression.
Am J Hum Genet
; 100(3): 444-453, 2017 Mar 02.
Article
in English
| MEDLINE | ID: mdl-28190458
6.
Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature
; 508(7496): 345-50, 2014 Apr 17.
Article
in English
| MEDLINE | ID: mdl-24740065
7.
Biased allelic expression in human primary fibroblast single cells.
Am J Hum Genet
; 96(1): 70-80, 2015 Jan 08.
Article
in English
| MEDLINE | ID: mdl-25557783
8.
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.
PLoS Genet
; 11(3): e1005062, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25803843
9.
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.
PLoS Genet
; 11(1): e1004958, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25634236
10.
Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature
; 531(7594): 400, 2016 Mar 17.
Article
in English
| MEDLINE | ID: mdl-26633627
11.
Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats.
PLoS Genet
; 10(6): e1004418, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24945355
12.
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.
PLoS Genet
; 10(5): e1004340, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24784881
13.
DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation.
Hum Mol Genet
; 23(5): 1224-36, 2014 Mar 01.
Article
in English
| MEDLINE | ID: mdl-24186870
14.
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Genome Res
; 23(9): 1410-21, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23783273
15.
New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism.
Nature
; 466(7306): 642-6, 2010 Jul 29.
Article
in English
| MEDLINE | ID: mdl-20671709
16.
La conceptionâ : une affaire de protéines.
Rev Med Suisse
; 16(684): 464-465, 2020 Mar 04.
Article
in French
| MEDLINE | ID: mdl-32134227
17.
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts.
Genome Res
; 21(1): 68-73, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21147911
18.
Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing.
Hum Mutat
; 34(9): 1304-11, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23696428
19.
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
HGG Adv
; 4(3): 100188, 2023 07 13.
Article
in English
| MEDLINE | ID: mdl-37124138
20.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Nat Commun
; 14(1): 2026, 2023 04 11.
Article
in English
| MEDLINE | ID: mdl-37041148