Detalhe da pesquisa
1.
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
PLoS Genet
; 19(11): e1011005, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37934770
2.
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.
Hum Mol Genet
; 31(8): 1325-1335, 2022 04 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34740257
3.
Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta.
Proc Natl Acad Sci U S A
; 118(25)2021 06 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34161280
4.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Am J Hum Genet
; 106(4): 570-583, 2020 04 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32197074
5.
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Am J Hum Genet
; 105(3): 625-630, 2019 09 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31303264
6.
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
Inglês
| MEDLINE | ID: mdl-30580808
7.
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Am J Med Genet A
; 188(6): 1868-1874, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35194938
8.
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.
Am J Hum Genet
; 103(2): 276-287, 2018 08 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30075114
9.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29961569
10.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med
; 379(22): 2131-2139, 2018 11 29.
Artigo
Inglês
| MEDLINE | ID: mdl-30304647
11.
Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Am J Med Genet A
; 185(7): 2037-2045, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33847457
12.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Am J Hum Genet
; 101(5): 815-823, 2017 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29100092
13.
Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results.
Genet Med
; 22(1): 69-76, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31273346
14.
Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.
Genet Med
; 22(8): 1303-1310, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32336750
15.
Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
Am J Med Genet A
; 182(4): 697-704, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31876392
16.
Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.
Genet Med
; 21(1): 3-16, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29760485
17.
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Genet Med
; 21(9): 1977-1986, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30670878
18.
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Am J Med Genet A
; 179(3): 475-479, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30569621
19.
P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA.
J Biol Chem
; 292(9): 3877-3887, 2017 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28115524
20.
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Am J Hum Genet
; 96(5): 841-9, 2015 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25957469