Detalhe da pesquisa
1.
Sex differences in physiological response to increased neuronal excitability in a knockin mouse model of pediatric epilepsy.
Clin Sci (Lond)
; 138(4): 205-223, 2024 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38348743
2.
Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy.
Epilepsia
; 64(12): 3365-3376, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37585367
3.
Greater female than male resilience to mortality and morbidity in the Scn8a mouse model of pediatric epilepsy.
Int J Neurosci
; : 1-13, 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37929583
4.
Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.
Epilepsia
; 63(8): 1970-1980, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35592948
5.
Substructured Population Growth in the Ashkenazi Jews Inferred with Approximate Bayesian Computation.
Mol Biol Evol
; 36(6): 1162-1171, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30840069
6.
Genomic Evidence of Local Adaptation to Climate and Diet in Indigenous Siberians.
Mol Biol Evol
; 36(2): 315-327, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30428071
7.
The impact of whole-genome sequencing on the reconstruction of human population history.
Nat Rev Genet
; 15(3): 149-62, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24492235
8.
The Role of Phylogenetically Conserved Elements in Shaping Patterns of Human Genomic Diversity.
Mol Biol Evol
; 35(9): 2284-2295, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30113695
9.
Whole-genome sequence analyses of Western Central African Pygmy hunter-gatherers reveal a complex demographic history and identify candidate genes under positive natural selection.
Genome Res
; 26(3): 279-90, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26888263
10.
Model-based analyses of whole-genome data reveal a complex evolutionary history involving archaic introgression in Central African Pygmies.
Genome Res
; 26(3): 291-300, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26888264
11.
Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort.
Epilepsia
; 60(8): 1711-1720, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31335965
12.
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia
; 60(5): 830-844, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968951
13.
Exome Sequencing Provides Evidence of Polygenic Adaptation to a Fat-Rich Animal Diet in Indigenous Siberian Populations.
Mol Biol Evol
; 34(11): 2913-2926, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28962010
14.
Complex Patterns of Admixture across the Indonesian Archipelago.
Mol Biol Evol
; 34(10): 2439-2452, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28957506
15.
Siberian genetic diversity reveals complex origins of the Samoyedic-speaking populations.
Am J Hum Biol
; 30(6): e23194, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30408262
16.
Extreme selective sweeps independently targeted the X chromosomes of the great apes.
Proc Natl Acad Sci U S A
; 112(20): 6413-8, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25941379
17.
The Time Scale of Recombination Rate Evolution in Great Apes.
Mol Biol Evol
; 33(4): 928-45, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26671457
18.
Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.
Hum Mol Genet
; 24(2): 506-15, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25227913
19.
Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome.
Epilepsia
; 58(2): 282-290, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012175
20.
Inference of gorilla demographic and selective history from whole-genome sequence data.
Mol Biol Evol
; 32(3): 600-12, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25534031