Detalhe da pesquisa
1.
REEV: review, evaluate and explain variants.
Nucleic Acids Res
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769069
2.
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Hum Genet
; 143(5): 683-694, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38592547
3.
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.
Am J Med Genet A
; : e63599, 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38517182
4.
Novel mutation and expanding phenotype in IRF2BP2 deficiency.
Rheumatology (Oxford)
; 62(4): 1699-1705, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36193988
5.
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
J Med Genet
; 59(7): 662-668, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34379057
6.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet
; 105(3): 631-639, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353024
7.
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.
Genet Med
; 24(9): 1927-1940, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670808
8.
VarFish: comprehensive DNA variant analysis for diagnostics and research.
Nucleic Acids Res
; 48(W1): W162-W169, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338743
9.
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Genet Med
; 23(4): 679-688, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442026
10.
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Genet Med
; 23(6): 1050-1057, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495529
11.
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
12.
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
13.
MutationDistiller: user-driven identification of pathogenic DNA variants.
Nucleic Acids Res
; 47(W1): W114-W120, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31106342
14.
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am J Hum Genet
; 101(5): 833-843, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100093
15.
TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.
Am J Med Genet A
; 182(3): 431-436, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769200
16.
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Am J Med Genet A
; 182(9): 2068-2076, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32592542
17.
PEDIA: prioritization of exome data by image analysis.
Genet Med
; 21(12): 2807-2814, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164752
18.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Hum Genet
; 137(9): 753-768, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167850
19.
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Am J Hum Genet
; 95(6): 763-70, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480037
20.
A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.
Am J Med Genet A
; 173(5): 1251-1256, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28345786