Detalhe da pesquisa
1.
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.
Hum Mol Genet
; 28(10): 1620-1628, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30608580
2.
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
Am J Hum Genet
; 101(6): 1013-1020, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220673
3.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040572
4.
Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.
Genet Med
; 21(7): 1669, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30127414
5.
DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.
Genet Med
; 21(3): 683-693, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054569
6.
Molecular mechanism of Zn2+ inhibition of a voltage-gated proton channel.
Proc Natl Acad Sci U S A
; 113(40): E5962-E5971, 2016 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27647906
7.
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.
J Hum Genet
; 63(12): 1211-1222, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30250212
8.
Current state of theoretical and experimental studies of the voltage-dependent anion channel (VDAC).
Biochim Biophys Acta
; 1858(7 Pt B): 1778-90, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940625
9.
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Ann Neurol
; 80(4)2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27543892
10.
Hydrophobic plug functions as a gate in voltage-gated proton channels.
Proc Natl Acad Sci U S A
; 111(2): E273-82, 2014 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24379371
11.
Acidification asymmetrically affects voltage-dependent anion channel implicating the involvement of salt bridges.
J Biol Chem
; 289(34): 23670-82, 2014 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24962576
12.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 27(12): 2224, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29554255
13.
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Genome Biol
; 23(1): 266, 2022 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36550560
14.
Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.
Neurol Ther
; 11(4): 1595-1607, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35933469
15.
Benzoannelation stabilizes the d(xy)1 state of low-spin iron(III) porphyrinates.
Inorg Chem
; 50(8): 3567-81, 2011 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21410230
16.
Consistent van der Waals radii for the whole main group.
J Phys Chem A
; 113(19): 5806-12, 2009 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-19382751
17.
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Sci Rep
; 9(1): 12752, 2019 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31484976
18.
Extension of a temperature-dependent aqueous solvation model to compounds containing nitrogen, fluorine, chlorine, bromine, and sulfur.
J Phys Chem B
; 112(10): 3024-39, 2008 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-18281971
19.
Performance of SM8 on a test to predict small-molecule solvation free energies.
J Phys Chem B
; 112(29): 8651-5, 2008 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-18582013
20.
Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome.
Pediatr Dev Pathol
; 21(3): 319-323, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29187032