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1.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clin Genet
; 105(5): 555-560, 2024 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38287449
2.
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?
Prenat Diagn
; 44(3): 352-356, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38342957
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37586840
4.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Am J Med Genet B Neuropsychiatr Genet
; : e32970, 2024 Mar 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38459409
5.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32553196
6.
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
J Med Genet
; 59(5): 445-452, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34085946
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35141892
8.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Genet Med
; 23(10): 1901-1911, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34113008
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32399599
10.
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.
Clin Genet
; 98(5): 433-444, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32335911
11.
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Am J Med Genet A
; 182(4): 792-797, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31953988
12.
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.
Genet Med
; 21(7): 1657-1661, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30563986
13.
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Am J Med Genet A
; 179(9): 1756-1763, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31241255
14.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Eur J Hum Genet
; 32(2): 190-199, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37872275
15.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36414205
16.
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Front Cell Dev Biol
; 11: 1021920, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36926521
17.
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Front Genet
; 14: 1122985, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37152996
18.
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
Eur J Med Genet
; 66(10): 104841, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37714374
19.
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Eur J Hum Genet
; 31(4): 461-468, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36747006
20.
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Front Genet
; 14: 1099995, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37035737