Detalhe da pesquisa
1.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909992
2.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Brain
; 143(12): 3564-3573, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33242881
3.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
4.
Clinical utility of exome sequencing in infantile heart failure.
Genet Med
; 22(2): 423-426, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527676
5.
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Genet Med
; 22(4): 736-744, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31780822
6.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376980
7.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Brain
; 142(9): 2617-2630, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327001
8.
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.
Am J Med Genet A
; 170(3): 634-44, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26646981
9.
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
J Hum Genet
; 60(7): 363-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25809939
10.
A Multifaceted Intervention to Improve Teamwork on an Inpatient Pediatric Neurosurgery Service.
Jt Comm J Qual Patient Saf
; 50(2): 104-115, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37806797
11.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
; 15(698): eabo3189, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256937
12.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Genet Med
; 14(1): 51-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237431
13.
The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.
Bone
; 131: 115142, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31704340
14.
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.
Mol Genet Metab
; 97(4): 284-91, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19447653
15.
Racial and ethnic disparities in health care-associated Clostridium difficile infections in the United States: State of the science.
Am J Infect Control
; 44(1): 91-6, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26454749
16.
Adverse Drug Event Prevention: 2014 Action Plan Conference.
Am J Med Qual
; 31(5): 476-85, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26024666
17.
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Mol Genet Metab Rep
; 1: 66-70, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896076
18.
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.
Neurology
; 79(2): 123-6, 2012 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22675082