Search details
1.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
J Med Genet
; 61(1): 36-46, 2023 Dec 21.
Article
in English
| MEDLINE | ID: mdl-37586840
2.
New insights into CC2D2A-related Joubert syndrome.
J Med Genet
; 60(6): 578-586, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36319078
3.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clin Genet
; 104(5): 554-563, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37580112
4.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36369750
5.
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet
; 59(12): 1234-1240, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36137615
6.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med
; 24(5): 1096-1107, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35063350
7.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Clin Genet
; 101(5-6): 494-506, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35170016
8.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Hum Genomics
; 15(1): 44, 2021 07 13.
Article
in English
| MEDLINE | ID: mdl-34256850
9.
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy data.
Prenat Diagn
; 42(5): 574-582, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35278234
10.
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
RNA
; 25(9): 1130-1149, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31175170
11.
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.
Clin Genet
; 100(4): 405-411, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34196401
12.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33415748
13.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31876365
14.
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.
Genet Med
; 21(5): 1189-1198, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30270358
15.
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Clin Genet
; 95(3): 384-397, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30614526
16.
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
J Med Genet
; 55(6): 422-429, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29459493
17.
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Am J Med Genet C Semin Med Genet
; 175(4): 417-430, 2017 12.
Article
in English
| MEDLINE | ID: mdl-29178447
18.
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Am J Med Genet A
; 173(12): 3136-3142, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-29136349
19.
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Am J Med Genet A
; 173(1): 62-71, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27615324
20.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genet Med
; 18(1): 49-56, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-25790162