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Wei-Zhen Ji · SciRah

Researcher profile · Semantic Scholar

Wei-Zhen Ji

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Wei-Zhen Ji — researcher profile on SciRah

h-index: 18
Works: 51
Citations: 5,853

Most-cited papers

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Murim Choi, U. Scholl, Wei-Zhen Ji, Tiewen Liu +10 more
2009Proceedings of the National Academy of Sciences of the United States of America1,410 citations Open access
Semantic Scholar
K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension
Murim Choi, U. Scholl, Peng Yue, P. Björklund +16 more
2011Science975 citations Open access
Semantic Scholar
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
Wei-Zhen Ji, Jia Nee Foo, B. O'Roak, Hong-Yu Zhao +6 more
2008Nature Genetics846 citations Open access
Semantic Scholar
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
Mathieu Lemaire, V. Frémeaux-Bacchi, F. Schaefer, Murim Choi +26 more
2013Nature Genetics461 citations Open access
Semantic Scholar
Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening
Bridget D. Stuart, Jungmin Choi, S. Zaidi, Chao Xing +17 more
2015Nature Genetics437 citations Open access
Semantic Scholar
Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice
Julie M. Jones, P. Datta, S. Srinivasula, Wei-Zhen Ji +9 more
2003Nature418 citations Open access
Semantic Scholar
Hypomethylation of pericentromeric DNA in breast adenocarcinomas
A. Narayan, Wei-Zhen Ji, Xian-Yang Zhang, A. Marrogi +3 more
1998International Journal of Cancer270 citations Open access
Semantic Scholar
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons
K. Griesi-Oliveira, Allan Acab, Abha R. Gupta, D. Y. Sunaga +21 more
2014Molecular Psychiatry202 citations Open access
Semantic Scholar
Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects*
H. Nomura, A. Turco, Y. Pei, L. Kalaydjieva +7 more
1998Journal of Biological Chemistry169 citations Open access
Semantic Scholar
Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae
J. Lowe, J. Maller, I. Pe'er, B. Neale +23 more
2009PLoS Genetics115 citations Open access
Semantic Scholar
Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation
Paul M. Tyler, Molly L. Bucklin, Mengting Zhao, Timothy J. Maher +14 more
2021Nature Immunology67 citations Open access
Semantic Scholar
De novo damaging variants associated with congenital heart diseases contribute to the connectome
Wei-Zhen Ji, D. Ferdman, J. Copel, D. Scheinost +4 more
2020Scientific Reports50 citations Open access
Semantic Scholar
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Annalisa G. Sega, Emily Mis, K. Lindstrom, S. Mercimek-Andrews +7 more
2018Journal of Medical Genetics42 citations
Semantic Scholar
DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
Sonia Amabile, L. Jeffries, J. McGrath, Wei-Zhen Ji +3 more
2020American Journal of Medical Genetics. Part A39 citations
Semantic Scholar
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history
L. Jeffries, H. Shima, Wei-Zhen Ji, David Panisello-Manterola +5 more
2018American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
R. Alharatani, A. Ververi, A. Beleza-Meireles, Wei-Zhen Ji +26 more
2019bioRxiv30 citations Open access
Semantic Scholar
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
Maicon Landim-Vieira, Jamie R Johnston, Wei-Zhen Ji, Emily Mis +10 more
2020Frontiers in Physiology26 citations Open access
Semantic Scholar
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome
N. Brodsky, O. Boyarchuk, T. Kovalchuk, T. Hariyan +5 more
2020Journal of Human Genetics18 citations
Semantic Scholar
Whole exome sequencing of adult and pediatric cohorts of the rare vascular disorder Systemic Capillary Leak Syndrome
Richard W. Pierce, Wei-Zhen Ji, E. Chan, Zhihui Xie +4 more
2019Shock18 citations Open access
Semantic Scholar
Remaining Useful Life Prediction for Circuit Breaker Based on SM-CFE and SA-BiLSTM
Shuguang Sun, Ze-Wei Wang, Jingqin Wang, Fei-Long Yang +1 more
2023IEEE Transactions on Instrumentation and Measurement16 citations
Semantic Scholar
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum
C. Kiraly-Borri, G. Jevon, Wei-Zhen Ji, L. Jeffries +4 more
2019Cold Spring Harbor molecular case studies16 citations Open access
Semantic Scholar
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.
L. Jeffries, Jordan E Olivieri, Wei-Zhen Ji, Michele Spencer-Manzon +3 more
2019European Journal of Medical Genetics13 citations
Semantic Scholar
Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)
J. Brooks, Andrew J. Rice, Wei-Zhen Ji, Stephen M Lanahan +7 more
2021Journal of Clinical Immunology12 citations
Semantic Scholar
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
Jonathan Marquez, Nina Mann, Kathya Arana, E. Deniz +16 more
2020Journal of Medical Genetics12 citations Open access
Semantic Scholar
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype
Fatima AbuBakr, L. Jeffries, Wei-Zhen Ji, J. McGrath +1 more
2020Cold Spring Harbor molecular case studies12 citations Open access
Semantic Scholar
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
I. Sandokji, Jonathan Marquez, Wei-Zhen Ji, C. Zerillo +4 more
2019BMC Nephrology12 citations Open access
Semantic Scholar
Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
L. Jeffries, Emily Mis, K. McWalter, S. Donkervoort +45 more
2023Genetics in Medicine11 citations Open access
Semantic Scholar
Clinical and functional heterogeneity associated with the disruption of Retinoic Acid Receptor beta
V. Caron, N. Chassaing, N. Ragge, F. Boschann +50 more
2023Genetics in Medicine10 citations Open access
Semantic Scholar
An expansion of NEUROD2 phenotypes to include developmental delay without seizures
Emily Mis, Annalisa G. Sega, R. Signer, Tracy Cartwright +12 more
2021American Journal of Medical Genetics. Part A10 citations Open access
Semantic Scholar
D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
Kelly M. Werner, Allison J. Cox, E. Qian, P. Jain +13 more
2021American Journal of Medical Genetics. Part A9 citations Open access
Semantic Scholar
Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9
Hong-Yan Chai, Wei-Zhen Ji, Jia-Di Wen, Autumn Diadamo +4 more
2020American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.
Brent A. Penque, L. Su, Jianghai Wang, Wei-Zhen Ji +10 more
2019European Journal of Medical Genetics9 citations
Semantic Scholar
DQX1, an RNA-dependent ATPase homolog with a novel DEAQ box: expression pattern and genomic sequence comparison of the human and mouse genes
Wei-Zhen Ji, Feng Chen, T. Do, Anh Do +2 more
2001Mammalian Genome9 citations Open access
Semantic Scholar
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence
Emily Mis, Samir Al-Ali, Wei-Zhen Ji, Michele Spencer-Manzon +4 more
2020American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure
June Criscione, Wei-Zhen Ji, L. Jeffries, J. McGrath +3 more
2019Cold Spring Harbor molecular case studies8 citations Open access
Semantic Scholar
TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects
Bilal Azab, D. Aburizeg, Wei-Zhen Ji, L. Jeffries +9 more
2022Molecular Medicine Reports7 citations Open access
Semantic Scholar
Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma
Gang Peng, Hong-Yan Chai, Wei-Zhen Ji, Yufei Lu +4 more
2021BMC Medical Genomics7 citations Open access
Semantic Scholar
Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review
A. Bondarenko, O. Boyarchuk, I. Sakovich, E. Polyakova +21 more
2023Clinical Case Reports6 citations Open access
Semantic Scholar
Optic, olfactory, and vestibular dysmorphogenesis in the homozygous mouse insertional mutant Tg9257.
Andrew J. Griffith, Wei-Zhen Ji, Mark E. P. Prince, R. A. Altschuler +1 more
1999Journal of Craniofacial Genetics and Developmental Biology5 citations
Semantic Scholar
Identification of genes within the Krd deletion on mouse Chromosome 19
Wei-Zhen Ji, B. Herron, Julie M. Jones, N. Jenkins +5 more
1999Mammalian Genome5 citations Open access
Semantic Scholar
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants
Ebba Alkhunaizi, N. Martin, A. Jelin, M. Rosner +9 more
2022American Journal of Medical Genetics. Part A4 citations Open access
Semantic Scholar
A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome
Walaa Elfar, E. Järvinen, Wei-Zhen Ji, Johanna Mosorin +7 more
2018Drug Metabolism And Disposition4 citations Open access
Semantic Scholar
Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma.
M. Chong, James R. Knight, G. Peng, Wei-Zhen Ji +5 more
2023Cancer Genetics3 citations
Semantic Scholar
A retrospective cohort analysis of the Yale Pediatric Genomics Discovery Program
Samir Al-Ali, L. Jeffries, E. Faustino, Wei-Zhen Ji +16 more
2022American Journal of Medical Genetics. Part A3 citations Open access
Semantic Scholar
Functional testing for variant prioritization in a family with long QT syndrome
Maliheh Najari Beidokhti, Alexander C. Bertalovitz, Wei-Zhen Ji, J. Mccormack +5 more
2021Zeitschrift für Induktive Abstammungs- und Vererbungslehre2 citations
Semantic Scholar
Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families
Abdullah, S. Hussain, Wei-Zhen Ji, Hammal Khan +9 more
2023Clinical Genetics1 citations Open access
Semantic Scholar
The impact of serum vascular endothelial growth factor expression on the prognosis in patients with hepatocellular carcinoma after treatment: recent progress in clinical research
Wei-Zhen Ji
20131 citations
Semantic Scholar
Corrigendum DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. Am J Med Genet A. 2020;182(9):2049–2057. Doi: 10.1002/ajmg.a.61729
Sonia Amabile, L. Jeffries, J. McGrath, Wei-Zhen Ji +3 more
2022American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
[A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States].
Chen-Yong Zhao, Xiaolei Xie, Wei-Zhen Ji, Ming Qi +5 more
2021Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics0 citations
Semantic Scholar
Correlating genomic copy number alterations with clinicopathologic findings in a case series of hepatocellular carcinoma
Gang Peng, Hong-Yan Chai, Wei-Zhen Ji, Yufei Lu +4 more
20200 citations Open access
Semantic Scholar

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