J. Mullikin

发表

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

William Stafford Noble, Nancy R. Zhang, Stephen C. J. Parker, 2007, Nature.

Mapping and sequencing of structural variation from eight human genomes

Joshua M. Korn, Nancy F. Hansen, D. Altshuler, 2008, Nature.

The Influence of Recombination on Human Genetic Diversity

Peter Donnelly, Gil McVean, Simon Myers, 2006, PLoS genetics.

The genome of the colonial hydroid Hydractinia reveals their stem cells utilize a toolkit of evolutionarily shared genes with all animals

Eric P. Nawrocki, Sofia N. Barreira, S. Koren, 2023, bioRxiv.

Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

Dennis C. Sgroi, Nancy F. Hansen, James C. Mullikin, 2016 .

Expanded skin virome in DOCK8-deficient patients

C. Deming, S. Conlan, H. Kong, 2018, Nature Medicine.

The complete sequence of a human genome

Aaron M. Streets, Ira M. Hall, Nathan D. Olson, 2021, bioRxiv.

Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants

Stephen C. J. Parker, A. Visel, F. Collins, 2013, Proceedings of the National Academy of Sciences.

Dosage compensation and DNA methylation landscape of the X chromosome in mouse liver

Brian D. Bennett, Sara A. Grimm, G. Bouffard, 2018, Scientific Reports.

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

Yan Huang, Murat Sincan, William A Gahl, 2012, Human mutation.

Accelerated genetic drift on chromosome X during the human dispersal out of Africa

A. Keinan, David Reich, Nick Patterson, 2008, Nature Genetics.

Genomic Landscape of Patients with Germline RUNX1 Variants and Familial Platelet Disorder with Myeloid Malignancy

Paul Liu, Joie Davis, R. Sood, 2023, bioRxiv.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

D. Kastner, C. Biben, S. Rosenzweig, 2019, Nature.

Analysis of DNA sequence variants detected by high‐throughput sequencing

J. Mullikin, D. Adams, M. Sincan, 2012, Human mutation.

An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval.

Nancy F. Hansen, E. Boerwinkle, M. Ross, 2014, American journal of human genetics.

predictions for 1 % of the human genome Analyses of deep mammalian sequence alignments and constraint Material Supplemental

E. Birney, S. Batzoglou, A. Sidow, 2016 .

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

D. Nickerson, A. Olshan, G. Shaw, 2022, American journal of medical genetics. Part A.

A family of unusual immunoglobulin superfamily genes in an invertebrate histocompatibility complex

S. Koren, A. Phillippy, A. Baxevanis, 2022, bioRxiv.