Detalhe da pesquisa
1.
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
Hum Mol Genet
; 28(6): 952-960, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476144
2.
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Am J Hum Genet
; 97(6): 894-903, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637979
3.
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.
Am J Hum Genet
; 97(6): 886-93, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637978
4.
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
J Inherit Metab Dis
; 41(4): 719-729, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29560582
5.
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Am J Hum Genet
; 94(6): 809-17, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906018
6.
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
Am J Med Genet A
; 173(3): 596-600, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27671926
7.
Identification of genes for childhood heritable diseases.
Annu Rev Med
; 65: 19-31, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24422568
8.
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
Am J Hum Genet
; 92(2): 252-8, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23290074
9.
Mutations in PIK3R1 cause SHORT syndrome.
Am J Hum Genet
; 93(1): 158-66, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810382
10.
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
Am J Med Genet A
; 170A(1): 11-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26373900
11.
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
CMAJ
; 188(11): E254-E260, 2016 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27241786
12.
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Hum Mutat
; 36(10): 931-40, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26251998
13.
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Am J Hum Genet
; 90(2): 369-77, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22305528
14.
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Am J Hum Genet
; 90(2): 308-13, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265015
15.
Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.
Curr Neurol Neurosci Rep
; 15(9): 64, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26289954
16.
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.
J Med Genet
; 51(7): 470-4, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706940
17.
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Hum Mutat
; 35(1): 45-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24108619
18.
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Am J Hum Genet
; 89(6): 713-30, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152675
19.
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
BMC Med Genet
; 15: 36, 2014 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24669931
20.
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
Epilepsia
; 55(7): e75-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24903190