Detalhe da pesquisa
1.
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Hum Mol Genet
; 32(12): 2084-2092, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920481
2.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med
; 26(5): 101076, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258669
3.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
4.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hum Mutat
; 2019 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646703
5.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Am J Hum Genet
; 99(2): 392-406, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426733
6.
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
Am J Med Genet A
; 173(8): 2246-2250, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574218
7.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
; 173(7): 1739-1746, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498505
8.
The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine.
Med J Aust
; 203(6): 261.e1-6, 2015 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26377294
9.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Am J Hum Genet
; 89(4): 551-63, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981781
10.
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome.
J Clin Immunol
; 38(3): 234-236, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29524015
11.
Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome.
Heart Lung Circ
; 26(6): 536-544, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28161018
12.
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Eur J Hum Genet
; 30(10): 1121-1131, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35970915
13.
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
Pediatr Res
; 69(3): 265-70, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21135753
14.
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.
Hum Genet
; 123(5): 469-76, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18404279
15.
Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.
Clin Dysmorphol
; 17(4): 243-8, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18978651
16.
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.
J Am Coll Cardiol
; 72(6): 605-615, 2018 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30071989
17.
Deletion 22q11.2 syndrome--implications for the intensive care physician.
Pediatr Crit Care Med
; 8(5): 459-63; quiz 464, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17873780
18.
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
BMJ Open
; 6(4): e009537, 2016 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27130160
19.
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
Hum Mutat
; 19(1): 39-48, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11754102
20.
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
J Invest Dermatol
; 123(4): 656-63, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15373769