Search details
1.
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 345-360, 2022 02 03.
Article
in English
| MEDLINE | ID: mdl-35045343
2.
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; 26(7): 101126, 2024 Mar 24.
Article
in English
| MEDLINE | ID: mdl-38529886
3.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Epilepsia
; 65(4): 1029-1045, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38135915
4.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Genet Med
; 25(7): 100839, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37057675
5.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenat Diagn
; 43(6): 734-745, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36914926
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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.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.
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.
Pediatr Dev Pathol
; 25(5): 548-552, 2022.
Article
in English
| MEDLINE | ID: mdl-35481434
8.
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
9.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1484-1491, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33833411
10.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33131162
11.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Brain
; 142(9): 2617-2630, 2019 09 01.
Article
in English
| MEDLINE | ID: mdl-31327001
12.
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Hum Genet
; 138(4): 363-374, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30838450
13.
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.
Br J Dermatol
; 2024 Apr 16.
Article
in English
| MEDLINE | ID: mdl-38623710
14.
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
15.
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
Am J Med Genet A
; 176(7): 1610-1613, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29704304
16.
Fetal cerebral hemorrhage due to X-linked GATA1 gene mutation.
Prenat Diagn
; 38(10): 772-778, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29949202
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.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1585, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34257424
19.
Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.
Am J Med Genet A
; 164A(10): 2504-9, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-24975584
20.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
J Med Genet
; 49(11): 698-707, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-23024289