Detalhe da pesquisa
1.
A complete pedigree-based graph workflow for rare candidate variant analysis.
Genome Res
; 32(5): 893-903, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35483961
2.
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
3.
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
4.
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
5.
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
6.
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
7.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol
; 88(2): 332-347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403198
8.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
J Neurogenet
; 35(2): 74-83, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970744
9.
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
10.
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
11.
Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
Hum Mutat
; 40(1): 42-47, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30362252
12.
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
13.
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
14.
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
15.
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
16.
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
17.
Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.
Hum Mol Genet
; 24(11): 3050-7, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25678555
18.
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
19.
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
20.
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