L. Tian

发表

PACSIN 2 represses cellular migration through direct association with cyclin D1 but not its alternate splice form cyclin D1b

M. Lisanti, Jie Zhou, Chenguang Wang, 2011, Cell cycle.

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

H. Hakonarson, W. Johnson, T. Jiang, 2013, Genome Medicine.

Transcriptome of the human retina, retinal pigmented epithelium and choroid.

Mingyao Li, C. Curcio, L. Tian, 2015, Genomics.

Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis

H. Hakonarson, Jun Wang, Yiran Guo, 2015, Ophthalmic genetics.

The Infection Rate of COVID-19 in Wuhan, China: Combined Analysis of Population Samples

H. Hakonarson, H. Qu, L. Tian, 2020, Journal of medical Internet research.

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Brian T. Naughton, Jason R. Bobe, H. Hakonarson, 2016, Nature Biotechnology.

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.

Ying Liu, Wei Wang, Mark Yandell, 2011, Discovery medicine.

The cell fate determination factor dachshund inhibits androgen receptor signaling and prostate cancer cellular growth.

Lifeng Tian, Anping Li, R. Pestell, 2009, Cancer research.

Application of ACMG criteria to classify variants in the human gene mutation database

H. Hakonarson, H. Qu, L. Tian, 2019, Journal of Human Genetics.

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Marni J. Falk, H. Hakonarson, Cecilia Kim, 2014, JIMD reports.

An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2016, Scientific Reports.

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

H. Hakonarson, Yiran Guo, Xiuqing Zhang, 2015, BMC Medical Genetics.

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

H. Hakonarson, L. Tian, M. Cortón, 2018, Scientific Reports.

CRISPR-engineered T cells in patients with refractory cancer

Howard Y. Chang, Wei-Ting Hwang, Frederic D Bushman, 2020, Science.

Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2022, Respiratory Research.

Activating peroxisome proliferator-activated receptor gamma mutant promotes tumor growth in vivo by enhancing angiogenesis.

T. Hyslop, Jie Zhou, Chenguang Wang, 2009, Cancer research.

B‐cell maturation antigen chimeric antigen receptor T‐cell re‐expansion in a patient with myeloma following salvage programmed cell death protein 1 inhibitor‐based combination therapy

B. Levine, C. June, J. Melenhorst, 2021, British journal of haematology.

Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.

H. Hakonarson, L. Tian, Dong Li, 2018, Annals of Translational Medicine.

Machine Learning Reduced Gene/Non-Coding RNA Features That Classify Schizophrenia Patients Accurately and Highlight Insightful Gene Clusters

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2020, medRxiv.

COVID-19: Look to the Future, Learn from the Past

H. Hakonarson, H. Qu, L. Tian, 2020, Viruses.

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome

H. Hakonarson, H. Qu, L. Tian, 2019, Orphanet Journal of Rare Diseases.

Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score.

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2020, Metabolism: clinical and experimental.

Foxp1 is an essential transcriptional regulator for the generation of quiescent naive T cells during thymocyte development.

G. Ippolito, A. Bhandoola, L. Tian, 2010, Blood.

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

H. Hakonarson, Yiran Guo, H. Pickett, 2014, Blood.

Abstract 1720: Activating peroxisome proliferator-activated receptor γ mutant promotes tumor growth in vivo by enhancing angiogenesis

Jie Zhou, Chenguang Wang, R. Pestell, 2010 .

Loss‐of‐Function Mutations in KIF15 Underlying a Braddock–Carey Genocopy

H. Hakonarson, L. Tian, R. Pellegrino, 2017, Human mutation.

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism

Mark S. Anderson, H. Hakonarson, Cecilia Kim, 2017, The Journal of clinical endocrinology and metabolism.

Expanding the Genetic Landscape of Usher-Like Phenotypes.

H. Hakonarson, E. Aller, J. Millán, 2019, Investigative ophthalmology & visual science.

High prevalence of elevated serum liver enzymes in Chinese children suggests metabolic syndrome as a common risk factor

H. Hakonarson, H. Qu, L. Tian, 2020, Journal of paediatrics and child health.

FLNC and MYLK2 gene mutations in a Chinese family with different phenotypes of cardiomyopathy

H. Hakonarson, H. Qu, Y. Liu, 2020, medRxiv.

Author Correction: Determinants of response and resistance to CD19 chimeric antigen receptor (CAR) T cell therapy of chronic lymphocytic leukemia

Sadik H. Kassim, E. Wherry, F. Johnson, 2021, Nature Medicine.

Decade-long leukaemia remissions with persistence of CD4+ CAR T cells

Gregory M. Chen, F. Bushman, E. Wherry, 2022, Nature.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

H. Hakonarson, Yiran Guo, N. Clarke, 2015, Neuromuscular Disorders.

Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration

Margaret A. Pericak-Vance, Nirubol Tosakulwong, Emily Y. Chew, 2010, Proceedings of the National Academy of Sciences.

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study

John J. Connolly, H. Hakonarson, Cecilia Kim, 2016, BMC Musculoskeletal Disorders.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Yiran Guo, Dong Li, Hakon Hakonarson, 2013, American journal of human genetics.