I. Kohane

发表

Expression profiling and identification of novel genes involved in myogenic differentiation

Voichita D. Marinescu, I. Kohane, M. Ramoni, 2004, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

BIOINFORMATICS Integration of heterogeneous expression data sets extends the role of the retinol pathway in diabetes and insulin resistance

S. Kasif, P. Park, S. Kong, 2009 .

Identification of common genetic risk variants for autism spectrum disorder

John P. Rice, Warren W. Kretzschmar, Robert M. Maier, 2019, Nature Genetics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Sarah E. Gould, David R. Murdock, Jean M. Davidson, 2019, Nature Medicine.

Bayesian approach to discovering pathogenic SNPs in conserved protein domains

Alberto Riva, Voichita D. Marinescu, Isaac S Kohane, 2004, Human mutation.

Prioritizing Disease‐Linked Variants, Genes, and Pathways with an Interactive Whole‐Genome Analysis Pipeline

In-Hee Lee, Kyu-Baek Hwang, Isaac S Kohane, 2014, Human mutation.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Identification of genes expressed with temporal-spatial restriction to developing cerebellar neuron precursors by a functional genomic approach

A. Kho, D. Rowitch, A. Kenney, 2002, Proceedings of the National Academy of Sciences of the United States of America.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Polygenic risks scores for autoimmune related diseases are significantly different and skewed in cancer exceptional responders

S. Churchill, A. L. Tan, S. Chen, 2023, medRxiv.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Dulxanthone A induces cell cycle arrest and apoptosis via up‐regulation of p53 through mitochondrial pathway in HepG2 cells

Annie P. Moseman, I. Kohane, Jie Shen, 2008, International journal of cancer.

A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

John P. Rice, P. O’Reilly, P. Visscher, 2020, Nature Communications.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Event Stream GPT: A Data Pre-processing and Modeling Library for Generative, Pre-trained Transformers over Continuous-time Sequences of Complex Events

Matthew B. A. McDermott, Peniel N. Argaw, Bret A. Nestor, 2023, ArXiv.

Mutual information relevance networks: functional genomic clustering using pairwise entropy measurements.

I S Kohane, A J Butte, A. Butte, 1999, Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Molecular profiles of inflammatory myopathies

L. Kunkel, I. Kohane, S. Greenberg, 2002, Neurology.

Identification of autoimmune gene signatures in autism

I S Kohane, I. Kohane, D. Wall, 2011, Translational Psychiatry.

The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25 000 subjects

John P. Rice, Min A. Jhun, S. Bandinelli, 2015, Molecular Psychiatry.

Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability.

John P. Rice, Warren W. Kretzschmar, Robert M. Maier, 2023, American journal of human genetics.

DNA hypermethylation in lung cancer is targeted at differentiation-associated genes

I. Kohane, E. Helman, K. Naxerova, 2012, Oncogene.

High throughput single cell bioinformatics

M. Toner, K. King, M. Yarmush, 2009, Biotechnology progress.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

Artificial intelligence in healthcare

I. Kohane, A. L. Beam, Kun-Hsing Yu, 2018, Nature Biomedical Engineering.

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

Warren W. Kretzschmar, Robert M. Maier, Till F. M. Andlauer, 2017, Nature Genetics.

Absence of evidence for increase in risk for autism or attention-deficit hyperactivity disorder following antidepressant exposure during pregnancy: a replication study

I. Kohane, S. Kong, R. Perlis, 2016, Translational psychiatry.

Peripheral blood gene expression signature differentiates children with autism from unaffected siblings

I. Kohane, S. Kong, In-Hee Lee, 2013, neurogenetics.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.