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.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain;
146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36757831
3.
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
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.
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
6.
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
7.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia;
62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34041744
8.
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Hum Mutat;
41(12): 2094-2104, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32935419
9.
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Genet Med;
22(4): 821, 2020 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31857706
10.
Copy number alterations involving 59 ACMG-recommended secondary findings genes.
Clin Genet;
98(6): 577-588, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33009833
11.
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
12.
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Am J Med Genet A;
182(6): 1426-1437, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32275123
13.
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Genet Med;
21(12): 2755-2764, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31263215
14.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genet Med;
21(3): 663-675, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30158690
15.
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
Hum Genet;
137(3): 257-264, 2018 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29556724
16.
Congenital Disorder of Glycosylation in a Child with Macrosomia.
Clin Chem;
69(12): 1432-1434, 2023 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38037438
17.
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
Am J Med Genet A;
176(1): 187-193, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29160006
18.
Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.
Hum Mol Genet;
24(14): 4024-36, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25882708
19.
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
J Hum Genet;
62(6): 589-597, 2017 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28228639
20.
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