Sheng Chih Jin

Sheng Chih Jin

Department of Pediatrics, School of Medicine, Washington University, St. Louis, MO 63110, USA | Department of Genetics, Washington University School of Medicine, St. Louis, ...

KOL Resume for Sheng Chih Jin  (congenital hydrocephalus, obstructive hydrocephalus, nervous hydrocephalus, hydrocephalus, nervous, system)


Department of Pediatrics, School of Medicine, Washington University, St. Louis, MO 63110, USA


Department of Genetics, School of Medicine, Washington University, St. Louis, MO 63110, USA;, (S.Z.);, (X.Y.)


Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA


Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, United States.

Yale University School of Medicine


Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA.

Department of Genetics, Yale School of Medicine, New Haven, CT, USA


Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.


Department of Psychiatry, School of Medicine, Washington University, St. Louis, MO USA


Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.


Department of Psychiatry, Washington University School of Medicine, 660 S. Euclid Ave. B8134, St. Louis, MO 63110, USA,


Department of Psychiatry, Washington University, 425 South Euclid Avenue, St. Louis, Missouri 63110, USA

Hopkins Bloomberg School of Public Health, Baltimore, Maryland.


Department of Psychiatry, Washington University School of Medicine, 660 South Euclid Avenue B8134, St. Louis, MO 63110, USA


Johns Hopkins University, School of Public Health, Baltimore, Maryland


Johns Hopkins University, School of Public Health, Baltimore, Maryland, USA


Prominent publications by Sheng Chih Jin

KOL Index score: 17454

INTRODUCTION: Some familial Alzheimer's disease (AD) cases are caused by rare and highly-penetrant mutations in APP, PSEN1, and PSEN2. Mutations in GRN and MAPT, two genes associated with frontotemporal dementia (FTD), have been found in clinically diagnosed AD cases. Due to the dramatic developments in next-generation sequencing (NGS), high-throughput sequencing of targeted genomic regions of the human genome in many individuals in a single run is now cheap and feasible. Recent findings ...

Known for Mapt Grn |  Psen1 Psen2 |  Pathogenic Mutations |  Dna Sequencing |  Familial Alzheimer
KOL Index score: 11150

The triggering receptor expressed on myeloid 2 (TREM2) is an immune phagocytic receptor expressed on brain microglia known to trigger phagocytosis and regulate the inflammatory response. Homozygous mutations in TREM2 cause Nasu-Hakola disease, a rare recessive form of dementia. A heterozygous TREM2 variant, p.R47H, was recently shown to increase Alzheimer''s disease (AD) risk. We hypothesized that if TREM2 is truly an AD risk gene, there would be additional rare variants in TREM2 that ...

Known for Coding Variants |  Trem2 Risk |  Alzheimers Disease |  Single Nucleotide Receptors |  Triggering Receptor
KOL Index score: 10339

BACKGROUND: Most sequencing studies in Parkinson's disease (PD) have focused on either a particular gene, primarily in familial and early onset PD samples, or on screening single variants in sporadic PD cases. To date, there is no systematic study that sequences the most common PD causing genes with Mendelian inheritance [α-synuclein (SNCA), leucine-rich repeat kinase 2 (LRRK2), PARKIN, PTEN-induced putative kinase 1 (PINK1) and DJ-1 (Daisuke-Junko-1)] and susceptibility genes ...

Known for Mendelian Genes |  Parkinson Disease |  Lrrk2 Gene Risk |  Female Genetic Predisposition |  Gba Gene
KOL Index score: 10167

The primary constituents of plaques (Aβ42/Aβ40) and neurofibrillary tangles (tau and phosphorylated forms of tau [ptau]) are the current leading diagnostic and prognostic cerebrospinal fluid (CSF) biomarkers for AD. In this study, we performed deep sequencing of APP, PSEN1, PSEN2, GRN, APOE and MAPT genes in individuals with extreme CSF Aβ42, tau, or ptau levels. One known pathogenic mutation (PSEN1 p.A426P), four high-risk variants for AD (APOE p.L46P, MAPT p.A152T, PSEN2 p.R62H and ...

Known for Variant Risk |  Apoeε4 Carriers |  Psen1 Pe318 |  Csf Tau |  Pathogenic Mutation
KOL Index score: 9830

Nonsyndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome-wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international consortium. Family-based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption, and multivitamin supplementation) were ...

Known for Nonsyndromic Cleft Palate |  Genome Wide |  Environment Interaction |  Genetic Parents Polymorphism |  Maternal Smoking
KOL Index score: 9232

Cerebrospinal fluid (CSF) tau, tau phosphorylated at threonine 181 (ptau), and Aβ₄₂ are established biomarkers for Alzheimer's disease (AD) and have been used as quantitative traits for genetic analyses. We performed the largest genome-wide association study for cerebrospinal fluid (CSF) tau/ptau levels published to date (n = 1,269), identifying three genome-wide significant loci for CSF tau and ptau: rs9877502 (p = 4.89 × 10⁻⁹ for tau) located at 3q28 between GEMC1 and OSTN, rs514716 (p ...

Known for Risk Variants |  Cerebrospinal Fluid |  Tau Proteins |  Single Nucleotide Receptors |  Genome Wide
KOL Index score: 8984

Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD, and CA but only 2% of patients with isolated CHD. Mutations altered genes involved ...

Known for Novo Mutations |  Congenital Heart Disease |  Patients Chd |  Rna Splicing |  Exome Sequencing
KOL Index score: 8577

Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implicated rare inherited mutations in 1.8%, including a recessive founder mutation in GDF1 accounting for ∼5% of severe CHD in Ashkenazim, recessive genotypes in MYH6 accounting for ∼11% of Shone complex, and dominant FLT4 mutations accounting for 2.3% of Tetralogy of Fallot. De novo mutations (DNMs) ...

Known for Novo Variants |  Congenital Heart |  Genes Chd |  Rare Inherited |  Exome Sequencing
KOL Index score: 6924

Terri Beaty and colleagues report a genome-wide association study of cleft lip with/without cleft palate. They identified variants near MAFB and ABCA4 associated with risk of this birth defect in case-parent trios of European and Asian ancestry.

Known for Cleft Lip |  Risk Variants |  Genomewide Association Study |  European Asian |  Mafb Abca4
KOL Index score: 6857

Background : Isolated, nonsyndromic cleft lip with or without cleft palate is a common human congenital malformation with a complex and heterogeneous etiology. Genes coding for fibroblast growth factors and their receptors (FGF/FGFR genes) are excellent candidate genes. Methods : We tested single-nucleotide polymorphic markers in 10 FGF/FGFR genes (including FGFBP1, FGF2, FGF10, FGF18, FGFR1, FGFR2, FGF19, FGF4, FGF3, and FGF9) for genotypic effects, interactions with ...

Known for Cleft Lip |  Fgfr Gene |  Single Nucleotide |  Genotypic Effects |  Asian Trios
KOL Index score: 6774

BACKGROUND: TREM2 encodes for triggering receptor expressed on myeloid cells 2 and has rare, coding variants that associate with risk for late-onset Alzheimer's disease (LOAD) in Caucasians of European and North-American origin. This study evaluated the role of TREM2 in LOAD risk in African-American (AA) subjects. We performed exonic sequencing and validation in two independent cohorts of >800 subjects. We selected six coding variants (p.R47H, p.R62H, p.D87N, p.E151K, p.W191X, and ...

Known for Load Risk |  Coding Variants |  African Americans |  Caucasians Trem2 |  Alzheimer Disease
KOL Index score: 6585

Primary aldosteronism, a common cause of severe hypertension1, features constitutive production of the adrenal steroid aldosterone. We analyzed a multiplex family with familial hyperaldosteronism type II (FH-II)2 and 80 additional probands with unsolved early-onset primary aldosteronism. Eight probands had novel heterozygous variants in CLCN2, including two de novo mutations and four independent occurrences of a mutation encoding an identical p.Arg172Gln substitution; all relatives with ...

Known for Chloride Channel |  Familial Hyperaldosteronism |  Aldosterone Production |  Earlyonset Primary Aldosteronism |  Mutational Analysis
KOL Index score: 6106

INTRODUCTION: TREM2 is a lipid-sensing activating receptor on microglia known to be important for Alzheimer's disease (AD), but whether it plays a beneficial or detrimental role in disease pathogenesis is controversial.

METHODS: We analyzed AD risk of TREM2 variants in the NIMH AD Genetics Initiative Study and AD Sequencing Project. We compared each variant's risk and functional impact by a reporter assay. Finally, we analyzed expression of TREM2 on human monocytes.

RESULTS: We provide ...

Known for Trem2 Variants |  Disease Genetic |  Sequencing Project |  Membrane Glycoproteins |  Receptors Immunologic
KOL Index score: 5902

Two recent studies have reported the association of rs75932628-T in the TREM2 gene with the risk for Alzheimer's disease (AD). Rs75932628-T is a rare nonsynonymous variant (p.R47H) that confers a high risk of AD with an effect size similar to that of the APOE ɛ4 allele. However, this association has not been replicated in any independent studies to date. The allelic frequency of rs75932628 varies according to the population from 0.02% to 0.63% among healthy controls. In an attempt to ...

Known for Alzheimers Disease |  Trem2 Risk |  Association Rs75932628 |  Minor Allele Frequency |  Population Studies
KOL Index score: 5886

TREM and TREM-like receptors are a structurally similar protein family encoded by genes clustered on chromosome 6p21.11. Recent studies have identified a rare coding variant (p.R47H) in TREM2 that confers a high risk for Alzheimer's disease (AD). In addition, common single nucleotide polymorphisms in this genomic region are associated with cerebrospinal fluid biomarkers for AD and a common intergenic variant found near the TREML2 gene has been identified to be protective for AD. However, ...

Known for Missense Variant |  Alzheimers Disease |  Single Nucleotide Receptors |  Trem2 Gene |  Treml2 Role


Sheng Chih Jin: Influence Statistics

Sample of concepts for which Sheng Chih Jin is among the top experts in the world.
Concept World rank
cpassociated genes #1
disease etiology strategy #1
methodologies data types #1
data types designs #1
roles disease etiology #1
novo genetic variants #1
25 sporadic #1
applications variant analysis #1
congenital hydrocephalus #1
protocol cohort size #2
sporadic congenital #2
pooleddna sequencing #2
complex genetic explanations #2
strong evidence pathophysiology #2
neonates emerging paradigms #2
identification genetic etiologies #2
ephrinb2ephb4rasa1 axis #2
families physiologic receptor #2
damaging gene #2
ephrinb2ephb4 vein galen #2
23 mb upstream #2
human congenital hydrocephalus #2
17q243 deletion #2
highconfidence pathogenic dnms #2
campomelic dysplasia hydrocephalus #2
patient angulation #2
damaging rare variants #2
7e31039 #2
patient ventriculomegaly #2
expected protocol #2
human congenital #2
genes syndromic #2
hydrocephalus characterized #2
pooleddna #2
transport typhoid #2
dysplasia hydrocephalus #2
human wholeexome protocol #2
limiting determinant discovery #2
dnms observed #2
rasa1 signaling #2
chd risk genotypes #2
large chd cohorts #2
sox9 chromosomal #2

Key People For Congenital Hydrocephalus

Top KOLs in the world
Jun Zhang
familial idiopathic scoliosis congenital hydrocephalus cerebral cavernous malformations
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cerebral palsy epilepsy surgery children hydrocephalus
Abhaya V Kulkarni
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cerebral palsy infantile hydrocephalus newborn infant
William B Dobyns
cortical development corpus callosum intellectual disability
Michael A Williams
shunt surgery intracranial pressure united states

Sheng Chih Jin:Expert Impact

Concepts for whichSheng Chih Jinhas direct influence:Congenital hydrocephalus,  Intellectual disability,  Exome sequencing,  Typhoid toxin,  Cerebral palsy,  Congenital heart disease,  Damaging variants,  Rare variants.

Sheng Chih Jin:KOL impact

Concepts related to the work of other authors for whichfor which Sheng Chih Jin has influence:Cleft palate,  Alzheimer disease,  Rare variants,  Congenital heart,  Primary aldosteronism,  Myeloid cells,  Exome sequencing.



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Department of Pediatrics, School of Medicine, Washington University, St. Louis, MO 63110, USA | Department of Genetics, Washington University School of Medicine, St. Louis, United States of America | Department of Genetics, School of Medicine, Washin

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