Detalhe da pesquisa
1.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
2.
A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Genet Med
; 25(3): 100348, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36571464
3.
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Am J Hum Genet
; 104(5): 815-834, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31031012
4.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808
5.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
6.
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Genet Med
; 24(2): 364-373, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906496
7.
A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.
Am J Med Genet A
; 188(3): 970-977, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34862840
8.
Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
Am J Med Genet A
; 182(4): 813-822, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31913574
9.
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
Am J Med Genet A
; 173(1): 221-224, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27649277
10.
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Hum Genet
; 135(5): 569-586, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27071622
11.
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots.
Psychiatr Genet
; 32(5): 171-177, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35837682
12.
GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
J Clin Invest
; 132(19)2022 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917186
13.
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Mol Genet Genomic Med
; 9(1): e1542, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33350591
14.
Ocular findings of albinism in DYRK1A-related intellectual disability syndrome.
Ophthalmic Genet
; 41(6): 650-655, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32838606
15.
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.
Sci Rep
; 9(1): 15739, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673062
16.
Adverse Events in Genetic Testing: The Fourth Case Series.
Cancer J
; 25(4): 231-236, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31335384
17.
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.
J Neurodev Disord
; 7(1): 26, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26257835