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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.
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
3.
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
4.
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
5.
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
6.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med
; 21(4): 816-825, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30190612
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29095811
8.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
J Med Genet
; 54(7): 479-488, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28119487
9.
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Am J Med Genet B Neuropsychiatr Genet
; 177(4): 397-405, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29603867
10.
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
Am J Med Genet A
; 170A(1): 116-29, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26420639
11.
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
J Med Genet
; 51(1): 21-7, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24133203
12.
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Am J Med Genet A
; 164A(12): 3027-34, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25258245
13.
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.
Am J Med Genet A
; 176(11): 2509-2512, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30244529
14.
Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.
Am J Med Genet A
; 161A(7): 1594-8, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23704076
15.
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
J Med Genet
; 49(12): 731-6, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23099646
16.
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
J Med Genet
; 49(6): 400-8, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22693284
17.
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv
; 2023 May 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37292616
18.
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Mol Genet Genomic Med
; 9(12): e1836, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34716697
19.
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Mol Genet Metab Rep
; 29: 100812, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34712575
20.
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.
Mol Genet Genomic Med
; 8(3): e1114, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31985172