Sheng Chih Jin

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 40 papers. Top paper: “The Somatic Mosaicism across Human Tissues Network”.

The Somatic Mosaicism across Human Tissues Network

Nature(2025)10.1038/s41586-025-09096-7

N/A

0.672DataRank · unranked

43 citations

Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Adam Voshall +365 more

Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease

Quantitative Biology(2021)10.15302/j-qb-021-0248

N/A

0.269DataRank · unranked

5 citations

Xue Zeng, Chentian Jin, Sheng Chih Jin, Weilai Dong, Martina Brueckner +4 more

O2‐10‐06: A Common Allele in SPI1 Lowers Risk and Delays Age at Onset for Alzheimer's Disease

Alzheimer's & Dementia(2016)10.1016/j.jalz.2016.06.453

N/A

0.104DataRank · unranked

1 citations

Sheng Chih Jin, Oscar Harari, Manav Kapoor, Sarah Bertelsen, Jake Czajkowski +36 more

PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets

Trends in Neurosciences(2021)10.1016/j.tins.2021.08.007

N/A

0DataRank · unranked

42 citations

Marina Carlson, Shreyas Panchagnula, Stephanie M. Robert, Phan Q. Duy, Kellen Mermin‐Bunnell +10 more

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

N/A

0DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

Insights From Genetic Studies of Cerebral Palsy

Frontiers in Neurology(2021)10.3389/fneur.2020.625428

N/A

0DataRank · unranked

49 citations

Sheetal Shetty, Bryce A. Wilson, Aris J. Huang, Sheng Chih Jin, Hayley Smithers‐Sheedy +3 more

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12378

N/A

0DataRank · unranked

29 citations

Miao He, Andrew C. Edmondson, Earnest James Paul Daniel, Jie Chen, Tyhiesia Donald +21 more

Analysis workflow to assess de novo genetic variants from human whole-exome sequencing

STAR Protocols(2021)10.1016/j.xpro.2021.100383

N/A

0DataRank · unranked

15 citations

Spencer B. king, Weilai Dong, Garrett Allington, Amar H. Sheth, Samuel T. Peters +3 more

Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability

Neurology Genetics(2021)10.1212/nxg.0000000000000602

N/A

0DataRank · unranked

11 citations

Somayeh Bakhtiari, Jennifer Heim, Patricia Cornejo, James Liu, Aris J. Huang +6 more

Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy

Neurology Genetics(2021)10.1212/nxg.0000000000000583

N/A

0DataRank · unranked

8 citations

Abbas Tafakhori, Sheng Chih Jin, Brandon S. Guida, Elham Alehabib, Saghar Firouzbadi +5 more

Quantifying concordant genetic effects of de novo mutations on multiple disorders

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.06.13.448234

N/A

0DataRank · unranked

1 citations

Lin Hou, Yu Shi, Sheng Chih Jin, Xue Zeng, Boyang Li +5 more

Network Assisted Analysis of De Novo Variants Using Protein-Protein Interaction Information Identified 46 Candidate Genes for Congenital Heart Disease

medRxiv(2021)10.1101/2021.11.30.21267069

N/A

0DataRank · unranked

0 citations

Wei Jiang, Weilai Dong, Hongyu Li, Sheng Chih Jin, Martina Brueckner +2 more

Brain ventricles as windows into brain development and disease

Neuron(2022)10.1016/j.neuron.2021.12.009

N/A

0DataRank · unranked

60 citations

Pasko Rakić, Seth L. Alper, William E. Butler, Christopher A. Walsh, Nenad Šestan +4 more

A neural stem cell paradigm of pediatric hydrocephalus

Cerebral Cortex(2022)10.1093/cercor/bhac341

N/A

0DataRank · unranked

31 citations

Pasko Rakić, Seth L. Alper, Stephanie M. Robert, Adam J. Kundishora, William E. Butler +6 more

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

Journal of Personalized Medicine(2022)10.3390/jpm12020175

N/A

0DataRank · unranked

23 citations

Yuchang Wu, Julie Choi, Garrett Allington, Shujuan Zhao, Mariam Khanfar +12 more

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

Human Genetics(2022)10.1007/s00439-022-02477-2

N/A

0DataRank · unranked

19 citations

Emre Kiziltug, Sheng Chih Jin, Carol Nelson‐Williams, Erin Loring, August Allocco +17 more

Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis

Cerebral Cortex(2022)10.1093/cercor/bhac257

N/A

0DataRank · unranked

17 citations

Kedous Y. Mekbib, Garrett Allington, Aladine A. Elsamadicy, Phan Q. Duy, Adam J. Kundishora +3 more

Mutation spectrum of congenital heart disease in a consanguineous Turkish population

Molecular Genetics & Genomic Medicine(2022)10.1002/mgg3.1944

N/A

0DataRank · unranked

13 citations

Hande Kaymakçalan, Sheng Chih Jin, Nicholas S. Diab, İbrahim Cansaran Tanıdır, Ali Seyfi Yalım Yalçın +7 more

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology(2022)10.1002/ana.26381

N/A

0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 more

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia

Journal of Lipid Research(2022)10.1016/j.jlr.2022.100209

N/A

0DataRank · unranked

8 citations

K. Wong, Youbin Liu, Michal Levy‐Sakin, Wei‐Chien Hung, Mo Li +17 more

Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease

PLoS Genetics(2022)10.1371/journal.pgen.1010252

N/A

0DataRank · unranked

8 citations

Wei Jiang, Weilai Dong, Hongyu Li, Sheng Chih Jin, Martina Brueckner +2 more

Quantifying concordant genetic effects of de novo mutations on multiple disorders

eLife(2022)10.7554/elife.75551

N/A

0DataRank · unranked

5 citations

Lin Hou, Yu Shi, Sheng Chih Jin, Xue Zeng, Boyang Li +5 more

Rare variants in ANO1 , encoding a calcium-activated chloride channel, predispose to moyamoya disease

Brain(2023)10.1093/brain/awad172

N/A

0DataRank · unranked

26 citations

Wenlei Ye, Stuart Fraser, Jill A. Rosenfeld, Pavel N. Pichurin, Scott E. Hickey +19 more

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

Nature Medicine(2023)10.1038/s41591-023-02238-2

N/A

0DataRank · unranked

20 citations

Garrett Allington, Stephen McGee, Kedous Y. Mekbib, Vladimir G. Gainullin, Andrew T. Timberlake +31 more

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

Nature Communications(2023)10.1038/s41467-023-43062-z

N/A

0DataRank · unranked

27 citations

Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau +61 more

Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease

Proceedings of the National Academy of Sciences(2023)10.1073/pnas.2214997120

N/A

0DataRank · unranked

20 citations

Tanyeri Barak, Leon D. Kaulen, Octavian Henegariu, Sheng Chih Jin, Stephanie Marie Aguilera +25 more

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

Brain(2023)10.1093/brain/awad405

N/A

0DataRank · unranked

18 citations

Garrett Allington, Stephen Viviano, Stephen McGee, Emre Kiziltug, Shaojie Ma +25 more

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus

JAMA Network Open(2023)10.1001/jamanetworkopen.2023.43384

N/A

0DataRank · unranked

13 citations

Neel H. Mehta, Garrett Allington, Sheng Chih Jin, Andrés Moreno-De-Luca, Kristopher T. Kahle +1 more

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Brain(2023)10.1093/brain/awad301

N/A

0DataRank · unranked

7 citations

Sara A. Lewis, Somayeh Bakhtiari, Sandra H. Nordlie, Alex M. Pagnozzi, Helen Magee +55 more

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

Pediatric Neurology(2023)10.1016/j.pediatrneurol.2023.08.023

N/A

0DataRank · unranked

4 citations

Walid Fazeli, Sophia Schließke, Gaëtan Lesca, Zeynep Gokce‐Samar, Kedous Y. Mekbib +26 more

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.18.532837

N/A

0DataRank · unranked

3 citations

Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau +58 more

A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

medRxiv(2023)10.1101/2023.03.19.23287455

N/A

0DataRank · unranked

1 citations

Stephen Viviano, Garrett Allington, Stephen McGee, Emre Kiziltug, Kedous Y. Mekbib +24 more

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

Brain(2024)10.1093/brain/awae175

N/A

0DataRank · unranked

21 citations

Bettina Jux, Shujuan Zhao, Kedous Y. Mekbib, Evan Dennis, Weilai Dong +25 more

De novo variants disrupt an LDB1 -regulated transcriptional network in congenital ventriculomegaly

Brain(2024)10.1093/brain/awae395

N/A

0DataRank · unranked

5 citations

Neel H. Mehta, Evan Dennis, Kedous Y. Mekbib, Benjamin C. Reeves, Emre Kiziltug +15 more

Potential clinical applications of advanced genomic analysis in cerebral palsy

EBioMedicine(2024)10.1016/j.ebiom.2024.105229

N/A

0DataRank · unranked

3 citations

Andrew Ruttenberg, Tuğçe Iyiyol, Nahyun Kong, Sheng Chih Jin, Michael C. Kruer +1 more

Diverse cell types establish a pathogenic immune environment in peripheral neuropathy

Journal of Neuroinflammation(2025)10.1186/s12974-025-03459-7

N/A

0DataRank · unranked

4 citations

Amy Strickland, Hui Qi Loo, Wendy Dong, Lilianne Barbar, A. Joseph Bloom +5 more

Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral Neuropathy

medRxiv(2025)10.1101/2025.04.18.25325809

N/A

0DataRank · unranked

0 citations

Sinem Ovunc, Ryo Iwase, Elle Mehinovic, Simone Thomas, Jenna Ulibarri +11 more

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy

medRxiv(2025)10.1101/2025.11.04.25339178

N/A

0DataRank · unranked

0 citations

Yung-Chun Wang, Peter T. Skidmore, Carolina I. Galaz-Montoya, Sara A. Lewis, Bader Alhaddad +52 more

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

iScience(2020)10.1016/j.isci.2020.101552

N/A

0DataRank · unranked

47 citations

Sheng Chih Jin, August Allocco, Xue Zeng, Amar H. Sheth, Shreyas Panchagnula +44 more

Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus

JAMA Pediatrics(2020)10.1001/jamapediatrics.2020.4878

N/A

0DataRank · unranked

15 citations

Benjamin C. Reeves, Phan Q. Duy, Carol Nelson‐Williams, Weilai Dong, Sheng Chih Jin +2 more