Detalhe da pesquisa
1.
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Am J Hum Genet
; 109(10): 1932-1943, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36206744
2.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
3.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 750-758, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202563
4.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Hum Mol Genet
; 29(11): 1900-1921, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196547
5.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet
; 105(4): 836-843, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564437
6.
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.
Clin Genet
; 102(6): 494-502, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36046955
7.
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Am J Med Genet A
; 188(8): 2389-2396, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567597
8.
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
J Hum Genet
; 66(10): 995-1008, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875766
9.
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Hum Mutat
; 41(2): 403-411, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660661
10.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 557-564, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721432
11.
Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2.
Hepatology
; 62(1): 198-206, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847299
12.
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
Am J Med Genet A
; 167A(12): 3006-10, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334766
13.
Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.
J Med Genet
; 51(10): 635-45, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118188
14.
Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism.
Am J Med Genet A
; 161A(3): 589-93, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401163
15.
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
BMC Med Genomics
; 14(1): 148, 2021 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34092239
16.
Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease.
Nat Commun
; 12(1): 2444, 2021 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33953184
17.
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Genome Med
; 13(1): 90, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34020708
18.
Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives.
Amyotroph Lateral Scler
; 10(1): 1-14, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19110986
19.
Complex aetiology of an apparently Mendelian form of mental retardation.
BMC Med Genet
; 9: 6, 2008 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-18254962
20.
Risk factors for hypospadias in the estrogen receptor 2 gene.
J Clin Endocrinol Metab
; 92(9): 3712-8, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17579196