Weizhen Ji, PhD, FACMG
Research Scientist in Pediatrics (Critical Care)DownloadHi-Res Photo
Cards
Appointments
Contact Info
About
Copy Link
Titles
Research Scientist in Pediatrics (Critical Care)
Appointments
Pediatric Critical Care Medicine
Research ScientistPrimary
Other Departments & Organizations
Education & Training
- PhD
- Tulane University (1996)
Research
Copy Link
Overview
Medical Research Interests
Pediatrics
ORCID
0000-0002-3452-6030
Research at a Glance
Yale Co-Authors
Frequent collaborators of Weizhen Ji's published research.
Publications Timeline
A big-picture view of Weizhen Ji's research output by year.
Saquib A. Lakhani
Former YSMLauren Jeffries, DO
Monica Konstantino
Former YSMEmily Kathryn Mis, PhD
Mustafa Khokha
Former YSMMichele Spencer-Manzon, MD
38Publications
2,806Citations
Publications
2026
Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families
Aslam F, Wajid M, Butt A, Wohler E, Seo G, Ji W, Lakhani S, Sobreira N, Naz S. Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families. Scientific Reports 2026, 16: 6529. PMID: 41606223, PMCID: PMC12910025, DOI: 10.1038/s41598-026-37808-0.Peer-Reviewed Original Research
2025
Immune dysregulation from a novel CTLA-4 haploinsufficiency variant
Brodsky N, Kennedy A, Glaser D, Jeffries L, Ji W, Natarajan E, Shin J, Sansom D, Lucas C, Lakhani S. Immune dysregulation from a novel CTLA-4 haploinsufficiency variant. Journal Of Human Immunity 2025, 2: e20250112. PMID: 41608053, PMCID: PMC12829747, DOI: 10.70962/jhi.20250112.Peer-Reviewed Original ResearchAltmetricNovel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly
Abdullah, Bharadwaj T, Javed S, Khan H, Acharya A, Ji W, Umm-e-Kalsoom, Ali H, Schrauwen I, Ahmad W, Lakhani S, Leal S. Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial Polydactyly. Genes 2025, 16: 1118. PMID: 41010063, PMCID: PMC12469399, DOI: 10.3390/genes16091118.Peer-Reviewed Original ResearchBiallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss
Landry-Voyer A, Holling T, Mis E, Hassani Z, Alawi M, Ji W, Jeffries L, Kutsche K, Bachand F, Lakhani S. Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2426078122. PMID: 40208938, PMCID: PMC12012559, DOI: 10.1073/pnas.2426078122.Peer-Reviewed Original ResearchCitationsA genetically modulated Toll-like receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome.
Khan R, Ji W, Guzman Rivera J, Madhvi A, Andrews T, Richlin B, Suarez C, Gaur S, Hasan U, Cuddy W, Singh A, Bukulmez H, Kaelber D, Kimura Y, Ganapathi U, Michailidis I, Ukey R, Moroso-Fela S, Kuster J, Casseus M, Roy J, Burns J, Kleinman L, Horton D, Lakhani S, Gennaro M. A genetically modulated Toll-like receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome. The Journal Of Immunology 2025, 214: 373-383. PMID: 40101747, PMCID: PMC11952872, DOI: 10.1093/jimmun/vkaf006.Peer-Reviewed Original ResearchCitationsAltmetric
2024
Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali
Bamba S, Sidibé L, Diallo S, Cissé L, Dembélé K, Yalcouyé A, Ji W, Dembélé M, Diarra S, Maiga A, Traoré O, Diallo S, Mefoung S, Touré A, Koné A, Jeffries L, Guinto C, Mis E, Fischbeck K, Khokha M, Lakhani S, Landouré G. Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali. Frontiers In Genetics 2024, 15: 1412442. PMID: 39624497, PMCID: PMC11609193, DOI: 10.3389/fgene.2024.1412442.Peer-Reviewed Original ResearchCitationsAltmetricGenetic profile of progressive myoclonic epilepsy in Mali reveals novel findings
Cissé L, Bamba S, Diallo S, Ji W, Dembélé M, Yalcouyé A, Coulibaly T, Traoré I, Jeffries L, Diarra S, Maiga A, Diallo S, Nimaga K, Touré A, Traoré O, Kotioumbé M, Mis E, Cissé C, Guinto C, Fischbeck K, Khokha M, Lakhani S, Landouré G. Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings. Frontiers In Neurology 2024, 15: 1455467. PMID: 39385815, PMCID: PMC11461190, DOI: 10.3389/fneur.2024.1455467.Peer-Reviewed Original ResearchCitationsCC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
Kim A, Sakin I, Viviano S, Tuncel G, Aguilera S, Goles G, Jeffries L, Ji W, Lakhani S, Kose C, Silan F, Oner S, Kaplan O, Group M, Ergoren M, Mishra-Gorur K, Gunel M, Sag S, Temel S, Deniz E. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow. Life Science Alliance 2024, 7: e202402708. PMID: 39168639, PMCID: PMC11339347, DOI: 10.26508/lsa.202402708.Peer-Reviewed Original ResearchCitationsAltmetricExome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders
Bibi A, Ji W, Jeffries L, Zerillo C, Konstantino M, Mis E, Khursheed F, Khokha M, Lakhani S, Malik S. Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders. American Journal Of Medical Genetics Part C Seminars In Medical Genetics 2024, 196: e32103. PMID: 39152716, DOI: 10.1002/ajmg.c.32103.Peer-Reviewed Original ResearchCitationsUnraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan
Azab B, Aburizeg D, Shaaban S, Ji W, Mustafa L, Isbeih N, Al-Akily A, Mohammad H, Jeffries L, Khokha M, Lakhani S, Al-Ammouri I. Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan. Scientific Reports 2024, 14: 15141. PMID: 38956129, PMCID: PMC11219879, DOI: 10.1038/s41598-024-64921-9.Peer-Reviewed Original ResearchCitations
Clinical Trials
Current Trials
Pediatric Genomics Discovery Program (PGDP)
IRB ID1411014977RoleSub InvestigatorPrimary Completion Date12/31/2023Recruiting ParticipantsGenderBoth
Get In Touch
Copy Link
Contacts
Email