Detalhe da pesquisa
1.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513338
2.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Genet Med
; 25(5): 100020, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36718845
3.
Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.
Am J Med Genet A
; 191(5): 1425-1429, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36814386
4.
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Genet Med
; 24(6): 1336-1348, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35305867
5.
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
Clin Genet
; 101(2): 214-220, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741306
6.
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
Clin Genet
; 102(2): 136-141, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35533077
7.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A
; 188(1): 272-282, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515416
8.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Clin Genet
; 100(4): 386-395, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164801
9.
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Am J Med Genet A
; 185(10): 2863-2872, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050707
10.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
J Med Genet
; 57(10): 717-724, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152250
11.
Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome.
Clin Genet
; 97(4): 670-671, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31825089
12.
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
BMC Neurol
; 20(1): 246, 2020 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32546208
13.
MAGEL2-related disorders: A study and case series.
Clin Genet
; 96(6): 493-505, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397880
14.
Further delineation of Aymé-Gripp syndrome and use of automated facial analysis tool.
Am J Med Genet A
; 176(7): 1648-1656, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30160832
15.
Expanding the phenotype of feingold syndrome-2.
Am J Med Genet A
; 167A(12): 3219-25, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26360630
16.
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Eur J Med Genet
; 62(12): 103588, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30472488
17.
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder.
Clin Dysmorphol
; 29(3): 161-164, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31929335