Detalhe da pesquisa
1.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clin Genet
; 105(3): 294-301, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044714
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.
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
4.
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Genet Med
; 24(5): 1045-1053, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35058154
5.
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
Am J Hum Genet
; 103(6): 968-975, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414627
6.
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genet Med
; 23(6): 1028-1040, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658631
7.
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
Am J Med Genet A
; 185(2): 544-548, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33184947
8.
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Am J Med Genet A
; 185(7): 2190-2197, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33931933
9.
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Genet Med
; 22(3): 547-556, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31649276
10.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med
; 22(3): 524-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578471
11.
Ectopia lentis in Loeys-Dietz syndrome type 4.
Am J Med Genet A
; 182(8): 1957-1959, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32462795
12.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hum Mutat
; 2019 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646703
13.
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Am J Hum Genet
; 99(3): 728-734, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545675
14.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Circulation
; 136(11): 1037-1048, 2017 Sep 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28687708
15.
A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis.
Hum Mol Genet
; 25(1): 202-9, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26566670
16.
MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Am J Hum Genet
; 96(1): 170-7, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557781
17.
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
J Med Genet
; 54(7): 460-470, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28377535
18.
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Genet Med
; 19(9): 1040-1048, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28252636
19.
Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries.
J Hum Genet
; 62(4): 491-496, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28100911
20.
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
Hum Mol Genet
; 23(19): 5271-82, 2014 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24833718