W. Ji

发表

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

I. Tikhonova, Paul Zumbo, Murim Choi, 2009, Proceedings of the National Academy of Sciences.

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

Emily K. Mis, W. Ji, P. Chase, 2020, Frontiers in Physiology.

Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9

W. Ji, A. Szekely, H. Chai, 2020, American journal of medical genetics. Part A.

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum

W. Ji, M. Konstantino, C. Kiraly-Borri, 2019, Cold Spring Harbor molecular case studies.

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

W. Ji, M. Konstantino, M. Khokha, 2019, BMC Nephrology.

Expansion of NEUROD2 phenotypes to include developmental delay without seizures

Emily K. Mis, S. Nelson, W. Ji, 2021, American journal of medical genetics. Part A.

A retrospective cohort analysis of the Yale pediatric genomics discovery program

Emily K. Mis, W. Ji, M. Konstantino, 2022, American journal of medical genetics. Part A.

Correlating genomic copy number alterations with clinicopathologic findings in a case series of hepatocellular carcinoma

Hongyu Zhao, W. Ji, Peining Li, 2020 .

Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening

S. Mane, R. Chen, J. Shay, 2015, Nature Genetics.

DQX1, an RNA-dependent ATPase homolog with a novel DEAQ box: expression pattern and genomic sequence comparison of the human and mouse genes

B. Roe, Feng Chen, W. Ji, 2001, Mammalian Genome.

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

W. Ji, M. Konstantino, S. Lakhani, 2019, European journal of medical genetics.

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae

Benjamin M. Neale, Itsik Pe'er, Julian B. Maller, 2009, PLoS genetics.

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Hongyu Zhao, Daniel Levy, Weizhen Ji, 2008, Nature Genetics.

Identification of genes within the Krd deletion on mouse Chromosome 19

N. Copeland, D. Gilbert, N. Jenkins, 1999, Mammalian Genome.

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

W. Ji, L. Bird, M. Konstantino, 2018, American journal of medical genetics. Part A.

K+ Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension

S. Mane, Murim Choi, R. Lifton, 2011, Science.

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

Michael F. Walker, Stephan J Sanders, D. Y. Sunaga, 2014, Molecular Psychiatry.

De novo damaging variants associated with congenital heart diseases contribute to the connectome

D. Scheinost, L. Ment, W. Ji, 2020, Scientific Reports.

Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice

S. Srinivasula, E. Alnemri, W. Ji, 2003, Nature.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Emily K. Mis, E. Zackai, D. Baralle, 2019, bioRxiv.

Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma

Hongyu Zhao, W. Ji, Peining Li, 2021, BMC Medical Genomics.

Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects*

S. Weremowicz, C. Morton, W. Ji, 1998, The Journal of Biological Chemistry.

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae Citation Lowe

M. Daly, D. Altshuler, B. Neale, 2009 .

W. Ji, S. Lakhani, J. McGrath, 2020, American journal of medical genetics. Part A.

Hypomethylation of pericentromeric DNA in breast adenocarcinomas

S. Baylin, M. Ehrlich, W. Ji, 1998, International journal of cancer.

Functional testing for variant prioritization in a family with long QT syndrome

W. Ji, M. Khokha, S. Lakhani, 2021, Molecular Genetics and Genomics.

Whole Exome Sequencing of Adult and Pediatric Cohorts of the Rare Vascular Disorder Systemic Capillary Leak Syndrome.

W. Ji, M. Khokha, Zhihui Xie, 2019, Shock.

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

John Hwa, Véronique Baudouin, Murim Choi, 2013, Nature Genetics.

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

Emily K. Mis, W. Ji, M. Konstantino, 2018, Journal of Medical Genetics.

Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation

A. Griffiths, N. Warner, W. Ji, 2021, Nature Immunology.

Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure

L. Pusztai, W. Ji, S. Lakhani, 2019, Cold Spring Harbor molecular case studies.

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.

R. Fulbright, Y. Yen, W. Ji, 2019, European journal of medical genetics.

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome

M. Finel, W. Ji, A. Iuga, 2018, Drug Metabolism and Disposition.

D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia

Preti Jain, S. Ferdinandusse, W. Ji, 2021, American journal of medical genetics. Part A.

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype

W. Ji, S. Lakhani, J. McGrath, 2020, Cold Spring Harbor molecular case studies.

Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)

W. Ji, M. Konstantino, S. Lakhani, 2021, Journal of Clinical Immunology.

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

Emily K. Mis, S. Ellard, J. Baptista, 2020, Journal of Medical Genetics.

Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)

W. Ji, M. Konstantino, M. Hershfield, 2021, Journal of Clinical Immunology.

Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome

W. Ji, M. Khokha, S. Lakhani, 2020, Journal of Human Genetics.

Fetal akinesia deformation sequence syndrome associated with recessive TTN variants

W. Ji, P. Shannon, D. Chitayat, 2022, American journal of medical genetics. Part A.

Optic, olfactory, and vestibular dysmorphogenesis in the homozygous mouse insertional mutant Tg9257.

W. Ji, M. Meisler, R. Altschuler, 1999, Journal of craniofacial genetics and developmental biology.

Integrated exome sequencing and microarray analyses detected genetic defects and underlying pathways of hepatocellular carcinoma.

W. Ji, J. Knight, Peining Li, 2023, Cancer genetics.