Detalhe da pesquisa
1.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Cell Mol Life Sci
; 81(1): 153, 2024 Mar 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38538865
2.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34186028
3.
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
Am J Med Genet A
; 194(6): e63548, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38264805
4.
Are CUL3 variants an underreported cause of congenital heart disease?
Am J Med Genet A
; 191(12): 2903-2907, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37665043
5.
NOTCH1 loss of the TAD and PEST domain: An antimorph?
Am J Med Genet A
; 191(6): 1593-1598, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36866832
6.
Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?
Am J Med Genet A
; 191(8): 2181-2187, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37141437
7.
Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.
Am J Med Genet A
; 191(8): 2219-2224, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37196051
8.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet
; 105(3): 631-639, 2019 09 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31353024
9.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30639323
10.
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Genet Med
; 24(7): 1512-1522, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35442193
11.
Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease.
Am J Med Genet A
; 188(1): 332-335, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34558799
12.
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
Am J Med Genet A
; 188(10): 3089-3095, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35946377
13.
An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
Am J Med Genet A
; 188(3): 926-930, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34825470
14.
Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.
Am J Med Genet A
; 188(5): 1589-1594, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35122461
15.
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Prenat Diagn
; 42(12): 1514-1524, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36068917
16.
An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.
Am J Med Genet A
; 185(8): 2541-2545, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34018669
17.
Pan-cancer RNA-seq data stratifies tumours by some hallmarks of cancer.
J Cell Mol Med
; 24(1): 418-430, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31730267
18.
ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
PLoS Genet
; 13(2): e1006481, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28158191
19.
Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
PLoS Genet
; 13(2): e1006624, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-28241013
20.
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
Am J Hum Genet
; 98(2): 339-46, 2016 Feb 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26805780