Lista de obras - Sheng Chih Jin - Dominio Público Uruguay

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

artículo científico publicado en 2017

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

artículo científico publicado en 2010

A novel association of campomelic dysplasia with hydrocephalus due to an unbalanced chromosomal translocation upstream of SOX9.

artículo científico publicado en 2018

Alzheimer's disease-associated TREM2 variants exhibit either decreased or increased ligand-dependent activation.

artículo científico publicado en 2016

Analysis workflow to assess <i>de novo</i> genetic variants from human whole-exome sequencing

artículo científico publicado en 2021

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

artículo científico publicado en 2018

Coding variants in TREM2 increase risk for Alzheimer's disease

artículo científico publicado en 2014

Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy

artículo científico publicado en 2022

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

artículo científico publicado en 2017

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

artículo científico publicado en 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

artículo científico publicado en 2019

De novo MYH9 mutation in congenital scalp hemangioma

artículo científico publicado en 2018

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

artículo científico publicado en 2015

Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation

artículo científico publicado en 2016

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease

scientific article published on 25 February 2019

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

artículo científico publicado en 2020

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

artículo científico publicado en 2013

Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility

scientific article published on 24 June 2019

Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus

artículo científico publicado en 2018

Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

artículo científico publicado en 2020

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

artículo científico publicado en 2018

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

scientific article published on 10 July 2019

Pooled-DNA Sequencing for Elucidating New Genomic Risk Factors, Rare Variants Underlying Alzheimer's Disease

artículo científico publicado en 2016

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

artículo científico publicado en 2012

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

artículo científico publicado en 2014

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

artículo científico publicado en 2019

TREM2 is associated with increased risk for Alzheimer's disease in African Americans

artículo científico publicado en 2015

The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.

artículo científico publicado en 2011

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers

artículo científico publicado en 2013

Unique features in the intracellular transport of typhoid toxin revealed by a genome-wide screen

artículo científico publicado en 2019

X‐linked markers in the Duchenne muscular dystrophy gene associated with oral clefts ⬇️

artículo científico publicado el 1 de abril de 2013

Lista de obras de Sheng Chih Jin

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

A novel association of campomelic dysplasia with hydrocephalus due to an unbalanced chromosomal translocation upstream of SOX9.

Alzheimer's disease-associated TREM2 variants exhibit either decreased or increased ligand-dependent activation.

Analysis workflow to assess <i>de novo</i> genetic variants from human whole-exome sequencing

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

Coding variants in TREM2 increase risk for Alzheimer's disease

Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De novo MYH9 mutation in congenital scalp hemangioma

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility

Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus

Missense variant in TREML2 protects against Alzheimer's disease

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

Pooled-DNA Sequencing for Elucidating New Genomic Risk Factors, Rare Variants Underlying Alzheimer's Disease

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

TREM2 is associated with increased risk for Alzheimer's disease in African Americans

The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers

Unique features in the intracellular transport of typhoid toxin revealed by a genome-wide screen

X‐linked markers in the Duchenne muscular dystrophy gene associated with oral clefts ⬇️