Weizhen Ji, PhD, FACMG
Research Scientist in Pediatrics (Critical Care)DownloadHi-Res Photo
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Research Scientist in Pediatrics (Critical Care)
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Pediatric Critical Care Medicine
Research ScientistPrimary
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Education & Training
- PhD
- Tulane University (1996)
Research
Overview
Medical Subject Headings (MeSH)
Pediatrics
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, MD
Lauren Jeffries, DO
Monica Konstantino, RN
Emily Kathryn Mis, PhD
Michele Spencer-Manzon, MD
Mustafa Khokha, MD
30Publications
2,433Citations
Publications
2024
Genetic 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 ResearchConceptsWhole-exome sequencingACMG criteriaProgressive myoclonic epilepsyProtein 3D structuresHomozygous missense variantRecessive inheritance patternCADD scoresAutosomal recessive inheritance patternSequence variantsMissense variantsGenomic researchExome sequencingGenetic analysisGenetic studiesPathogenic variantsPedigree analysisGenetic epidemiologyGenetic researchGenetic profileHeterogeneous neurological disordersInheritance patternSporadic formsACMGGroup of neurological disordersMyoclonic epilepsyCC2D1A 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 ResearchAltmetricMeSH Keywords and ConceptsConceptsDevelopmental disabilitiesIntellectual disabilityPatient-derived fibroblastsMidbrain regionsBrain developmentDefective ciliogenesisCSF circulationDisabilityCSF flowAbnormal CSF flowNervous system developmentMutant tadpolesCiliated tissuesMultiple model systemsVariant functionPronephric ductUnrelated familiesCC2D1AExpression patternsCiliogenesisRenal dysplasiaLeft-right organizerFunctional analysisDisease mechanismsBrainExome 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, e32103. PMID: 39152716, DOI: 10.1002/ajmg.c.32103.Peer-Reviewed Original ResearchConceptsExome sequencingConsanguineous Pakistani familyDisease-causing genesFamily segregation analysisAssociated with phenotypesAffected individualsAccurate molecular diagnosisACMG criteriaCandidate variantsGenomic studiesPakistani familyGenomic researchGenetic heterogeneityNovel variantsSegregation analysisConsanguineous familyGenetic variantsNeurodevelopmental disordersHomozygous variantNeuromuscular disordersMiddle-income countriesMolecular diagnosisExomeES dataClinical phenotypeUnraveling 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 ResearchMeSH Keywords and ConceptsConceptsExome sequencingSarcomere-related genesMitochondrial-related diseasesAt-risk family membersGenetic architectureGenetic landscapePathogenic variantsGene panelPediatric cardiomyopathyMolecular underpinningsGenetic testingPhenocopiesSarcomeric cardiomyopathiesGenesSequenceStorage disorderFamily membersAt-riskVariantsEarly interventionExomeFamilyGlycogen storage disorderHypertrophic cardiomyopathyCardiomyopathyClinical and genetic investigation of 14 families with various forms of short stature syndromes
Khan F, Khan H, Ullah K, Nawaz S, Abdullah, Khan M, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan I, Ali R, Hasni M, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack T, Ji W, Lakhani S, Ansar M, Ahmad W. Clinical and genetic investigation of 14 families with various forms of short stature syndromes. Clinical Genetics 2024, 106: 347-353. PMID: 38774940, DOI: 10.1111/cge.14550.Peer-Reviewed Original ResearchAltmetricConceptsSyndromic forms of short statureFamilies of Pakistani originDisease-causing gene variantsSyndromic formsWhole-exome sequencingSequence variantsHomozygosity mappingIdentified genesExome sequencingAutosomal dominant mannerSanger sequencingXRCC4 geneMutation spectrumGenetic etiologyGenetic investigationsLethal defectShort statureGene variantsGenesDominant mannerReduced growthShort stature syndromeHeterogeneous group of disordersSequenceGroup of disorders
2023
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability
O'Brien M, Pryzhkova M, Lake E, Mandino F, Shen X, Karnik R, Atkins A, Xu M, Ji W, Konstantino M, Brueckner M, Ment L, Khokha M, Jordan P. SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability. International Journal Of Molecular Sciences 2023, 25: 430. PMID: 38203602, PMCID: PMC10779392, DOI: 10.3390/ijms25010430.Peer-Reviewed Original ResearchCitationsAltmetricSequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families
Abdullah, Hussain S, Ji W, Khan H, Mis E, Mushtaq R, Chodhary M, Raza M, Jan A, Ullah I, Khokha M, Lakhani S, Ahmad W. Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families. Clinical Genetics 2023, 105: 109-111. PMID: 37776184, DOI: 10.1111/cge.14430.Peer-Reviewed Original ResearchAltmetricVariable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review
Bondarenko A, Boyarchuk O, Sakovich I, Polyakova E, Migas A, Kupchinskaya A, Opalinska A, Reich A, Volianska L, Hilfanova A, Lapiy F, Chernyshova L, Volokha A, Zabara D, Belevtsev M, Shman T, Kukharenko L, Goltsev M, Dubouskaya T, Hancharou A, Ji W, Lakhani S, Lucas C, Aleinikova O, Sharapova S. Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review. Clinical Case Reports 2023, 11: e7791. PMID: 37601427, PMCID: PMC10432584, DOI: 10.1002/ccr3.7791.Peer-Reviewed Original ResearchCitationsConceptsCD18 expressionLAD-1Effector cytotoxic T cellsPyoderma gangrenosum-like lesionsHematopoietic stem cell transplantationGangrenosum-like lesionsRespiratory tract infectionsStem cell transplantationInflammatory skin diseaseCytotoxic T cellsImmune system imbalanceType 1 deficiencyYears of ageLeukocyte adhesion deficiency (LAD) IWhole-exome sequencingAutosomal recessive disorderAutoinflammatory complicationsInfectious manifestationsTract infectionsCell transplantationRare conditionT cellsOral cavitySkin diseasesClinical casesIntegrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma
Chong M, Knight J, Peng G, Ji W, Chai H, Lu Y, Wu S, Li P, Hu Q. Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma. Cancer Genetics 2023, 276: 30-35. PMID: 37418972, DOI: 10.1016/j.cancergen.2023.06.002.Peer-Reviewed Original ResearchCitationsMeSH Keywords and ConceptsConceptsTumor mutation burdenWhole-exome sequencingGrade IIIHepatocellular carcinomaCNA burdenCase seriesBarcelona Clinic Liver Cancer stageExome sequencingBCLC stage CLiver Cancer stageEdmondson-Steiner gradingLarge case seriesGenetic defectsHigher CNA burdenAdjacent nontumor tissuesΒ-catenin pathwayBetter prognosisClinicopathologic findingsPoor prognosisClinicopathologic classificationCancer stageSurvival statusMutation burdenStage CPrognostic predictionCFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability
Deniz E, Pasha M, Guerra M, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani S, Medne L, Skraban C, Krantz I, Khokha M. CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability. Developmental Biology 2023, 499: 75-88. PMID: 37172641, PMCID: PMC10373286, DOI: 10.1016/j.ydbio.2023.04.006.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsLeft-right organizerCilia stabilityLeft-right patterningCongenital heart disease genesApical surfaceCell apical surfaceLive confocal imagingLeftward fluid flowHeart disease genesRecessive missense mutationLethal birth defectMotile monociliaProtein familyEarly embryogenesisMulticiliated cellsCiliary axonemeDisease genesFrog embryosGenetic underpinningsWhole-exome sequencingMissense mutationsConfocal imagingEmbryosCiliaCongenital heart disease
Clinical Trials
Current Trials
Pediatric Genomics Discovery Program (PGDP)
HIC ID1411014977RoleSub InvestigatorPrimary Completion Date12/31/2023Recruiting ParticipantsGenderBoth
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