Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979581
2.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811806
3.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974505
4.
Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature
; 561(7722): E7, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29977062
5.
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature
; 557(7706): 564-569, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29769720
6.
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
Am J Hum Genet
; 107(6): 1157-1169, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159883
7.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Am J Med Genet A
; 191(1): 52-63, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196855
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369750
9.
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.
Mol Cell
; 59(6): 956-69, 2015 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365382
10.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36914926
11.
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.
Am J Hum Genet
; 105(5): 1040-1047, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630789
12.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Clin Genet
; 101(5-6): 494-506, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170016
13.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
J Med Genet
; 56(10): 701-710, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31451536
14.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923172
15.
Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders.
Am J Respir Crit Care Med
; 200(9): 1093-1101, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31189067
16.
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Hum Mutat
; 40(11): 1993-2000, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230393
17.
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Am J Hum Genet
; 99(3): 540-554, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569545
18.
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Am J Hum Genet
; 99(3): 555-566, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569549
19.
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(11): 2663, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267042
20.
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(12): 2713-2722, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155615