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1.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Article
in English
| MEDLINE | ID: mdl-36044892
2.
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Ann Hum Genet
; 86(4): 171-180, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35141892
3.
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.
Pharmacogenomics J
; 22(5-6): 258-263, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35590072
4.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Article
in English
| MEDLINE | ID: mdl-32732226
5.
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Hum Genet
; 139(11): 1381-1390, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32399599
6.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
; 22(11): 1838-1850, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32694869
7.
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Clin Genet
; 98(1): 43-55, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32279304
8.
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Hum Mutat
; 40(12): 2430-2443, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31379041
9.
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Genet Med
; 20(6): 645-654, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29095811
10.
The Bacterial and Fungal Diversity of an Aged PAH- and Heavy Metal-Contaminated Soil is Affected by Plant Cover and Edaphic Parameters.
Microb Ecol
; 71(3): 711-24, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26440298
11.
Périgord black truffle genome uncovers evolutionary origins and mechanisms of symbiosis.
Nature
; 464(7291): 1033-8, 2010 Apr 15.
Article
in English
| MEDLINE | ID: mdl-20348908
12.
Genome of an arbuscular mycorrhizal fungus provides insight into the oldest plant symbiosis.
Proc Natl Acad Sci U S A
; 110(50): 20117-22, 2013 Dec 10.
Article
in English
| MEDLINE | ID: mdl-24277808
13.
The Mutualist Laccaria bicolor Expresses a Core Gene Regulon During the Colonization of Diverse Host Plants and a Variable Regulon to Counteract Host-Specific Defenses.
Mol Plant Microbe Interact
; 28(3): 261-73, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25338146
14.
Obligate biotrophy features unraveled by the genomic analysis of rust fungi.
Proc Natl Acad Sci U S A
; 108(22): 9166-71, 2011 May 31.
Article
in English
| MEDLINE | ID: mdl-21536894
15.
Laser microdissection and microarray analysis of Tuber melanosporum ectomycorrhizas reveal functional heterogeneity between mantle and Hartig net compartments.
Environ Microbiol
; 15(6): 1853-69, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23379715
16.
The AINTEGUMENTA LIKE1 homeotic transcription factor PtAIL1 controls the formation of adventitious root primordia in poplar.
Plant Physiol
; 160(4): 1996-2006, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23077242
17.
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Eur J Hum Genet
; 31(7): 761-768, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-36450799
18.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Eur J Med Genet
; 66(1): 104670, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36414205
19.
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Front Genet
; 14: 1122985, 2023.
Article
in English
| MEDLINE | ID: mdl-37152996
20.
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Front Cell Dev Biol
; 11: 1021920, 2023.
Article
in English
| MEDLINE | ID: mdl-36926521