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1.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37979581
2.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-37071997
3.
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Clin Genet
; 2024 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38561231
4.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Am J Med Genet A
; 191(1): 52-63, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36196855
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36369750
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.
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.
Pharmacogenomics J
; 22(5-6): 258-263, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35590072
9.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35445792
10.
Assessing a New Prescreening Score for the Simplified Evaluation of the Clinical Quality and Relevance of eHealth Apps: Instrument Validation Study.
J Med Internet Res
; 24(7): e39590, 2022 07 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35788102
11.
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
12.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1484-1491, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33833411
13.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Clin Genet
; 100(4): 396-404, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34176129
14.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
J Med Genet
; 57(7): 466-474, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32277047
15.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30287593
16.
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
17.
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
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32279304
19.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30923172
20.
A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.
Hum Mol Genet
; 26(23): 4680-4688, 2017 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28973148