Detalhe da pesquisa
1.
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Brain
; 146(1): 387-404, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35802027
2.
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
Brain
; 146(9): 3616-3623, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253099
3.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
4.
Ancestral polymorphisms shape the adaptive radiation of Metrosideros across the Hawaiian Islands.
Proc Natl Acad Sci U S A
; 118(37)2021 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34497122
5.
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
J Clin Immunol
; 43(2): 247-270, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648576
6.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
; 191(1): 135-143, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271811
7.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
8.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
9.
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
Rheumatology (Oxford)
; 62(1): 347-359, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35412596
10.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Ann Neurol
; 89(4): 828-833, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443317
11.
Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation.
J Pediatr
; 235: 220-225, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33836185
12.
Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.
Clin Genet
; 100(6): 775-776, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34476810
13.
Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.
Genet Med
; 22(9): 1568, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32587351
14.
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Genet Med
; 22(6): 986-1004, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203227
15.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry
; 24(11): 1748-1768, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728705
16.
Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome.
Cleft Palate Craniofac J
; 57(12): 1362-1369, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32787583
17.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 99(4): 991-999, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693232
18.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27640307
19.
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
J Clin Immunol
; 44(2): 53, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38252398
20.
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