Detalhe da pesquisa
1.
Addressing underrepresentation in genomics research through community engagement.
Am J Hum Genet
; 109(9): 1563-1571, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055208
2.
ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals.
Am J Med Genet A
; 194(6): e63540, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243407
3.
Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability.
Am J Med Genet A
; 188(6): 1808-1814, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253988
4.
Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
Am J Med Genet A
; 188(3): 878-882, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34881817
5.
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Am J Med Genet A
; 188(9): 2718-2723, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796094
6.
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Am J Med Genet A
; 188(9): 2750-2759, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543142
7.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Hum Mol Genet
; 28(17): 2937-2951, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31152168
8.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473207
9.
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(2): 389-397, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388190
10.
Growth charts for individuals with Coffin-Siris syndrome.
Am J Med Genet A
; 182(10): 2253-2262, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32851773
11.
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Am J Med Genet A
; 182(12): 2926-2938, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043588
12.
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Am J Med Genet A
; 182(9): 2058-2067, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32686290
13.
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Mol Genet Metab
; 124(2): 124-130, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735374
14.
First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.
Am J Med Genet A
; 176(11): 2250-2258, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30276971
15.
Congenital lumbar hernia-A feature of diabetic embryopathy?
Am J Med Genet A
; 176(11): 2243-2249, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30276953
16.
Schaaf-Yang syndrome overview: Report of 78 individuals.
Am J Med Genet A
; 176(12): 2564-2574, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30302899
17.
Molecular and clinical spectra of FBXL4 deficiency.
Hum Mutat
; 38(12): 1649-1659, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940506
18.
A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.
Am J Med Genet A
; 173(9): 2528-2533, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653809
19.
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
Am J Med Genet A
; 173(10): 2814-2820, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815955
20.
Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
Am J Med Genet A
; 170(12): 3333-3337, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27568880