Detalhe da pesquisa
1.
FOXR1 regulates stress response pathways and is necessary for proper brain development.
PLoS Genet
; 17(11): e1009854, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34723967
2.
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Am J Hum Genet
; 104(6): 1127-1138, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155284
3.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Am J Hum Genet
; 105(2): 413-424, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31327508
4.
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
PLoS Genet
; 15(5): e1008143, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31125343
5.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet
; 103(5): 794-807, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401460
6.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
J Neurogenet
; 35(2): 74-83, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970744
7.
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Am J Hum Genet
; 100(1): 128-137, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017372
8.
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.
J Med Genet
; 56(11): 778-782, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30385646
9.
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Genet Med
; 21(8): 1772-1780, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30700791
10.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Ann Neurol
; 84(5): 766-780, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295347
11.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26119818
12.
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
Am J Med Genet A
; 176(12): 2768-2776, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30548380
13.
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
Hum Mutat
; 38(10): 1412-1420, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28675565
14.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Am J Hum Genet
; 105(3): 672-674, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31491411
15.
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.
Mol Genet Metab
; 120(3): 288-294, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041820
16.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Genet Med
; 18(6): 608-17, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26562225
17.
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Mol Genet Metab
; 117(4): 393-400, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26846157
18.
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
Mol Genet Metab
; 115(2-3): 128-140, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25943031
19.
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome.
Blood
; 122(14): 2487-90, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-23943650
20.
MED23-associated intellectual disability in a non-consanguineous family.
Am J Med Genet A
; 167(6): 1374-80, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25845469