List of works by James C Mullikin

A Neutralizing Antibody Recognizing Primarily N-Linked Glycan Targets the Silent Face of the HIV Envelope.

scientific article published on 7 March 2018

A congenital neutrophil defect syndrome associated with mutations in VPS45.

scientific article published on 05 June 2013

A defined zebrafish line for high-throughput genetics and genomics: NHGRI-1

scientific article

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

scientific article

A new strategy for genome assembly using short sequence reads and reduced representation libraries

scientific article

A robust benchmark for detection of germline large deletions and insertions

scientific article published on 15 June 2020

A scalable and flexible approach for investigating the genomic landscapes of phylogenetic incongruence

scientific article

A second generation human haplotype map of over 3.1 million SNPs

scientific article

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

scientific article

Alternative Isoform Analysis of Ttc8 Expression in the Rat Pineal Gland Using a Multi-Platform Sequencing Approach Reveals Neural Regulation

scientific article

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

scientific article published on 28 February 2012

An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing

scientific article (publication date: 29 March 2005)

An intermediate grade of finished genomic sequence suitable for comparative analyses

scientific article published on 12 October 2004

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

scientific article published in June 2007

Analysis of DNA sequence variants detected by high-throughput sequencing

scientific article published on 28 February 2012

Antibody Lineages with Vaccine-Induced Antigen-Binding Hotspots Develop Broad HIV Neutralization

scientific article published on 01 July 2019

Applications and efficiencies of the first cat 63K DNA array.

scientific article published on 4 May 2018

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening

scientific article published on 18 August 2016

Assessing the reproducibility of exome copy number variations predictions

scientific article published on 08 August 2016

Author Correction: A robust benchmark for detection of germline large deletions and insertions

scientific article published on 22 July 2020

Author Correction: Applications and efficiencies of the first cat 63K DNA array.

scientific article published on 4 June 2018

Author Correction: Applications and efficiencies of the first cat 63 K DNA array

scientific article published on 12 March 2019

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

scientific article published on 20 December 2016

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

scientific journal article

Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans

article

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

scientific article published on 4 January 2017

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

scientific article published on 27 February 2017

Co-evolution of a broadly neutralizing HIV-1 antibody and founder virus

scientific article

Complete Khoisan and Bantu genomes from southern Africa

scientific article

Completing the map of human genetic variation

scientific article published on May 2007

Complex haplotypes, copy number polymorphisms and coding variation in two recently divergent mouse strains

scientific article

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

scientific article published on 14 May 2016

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

scientific article

Conserved and novel Wnt clusters in the basal eumetazoan Nematostella vectensis

scientific article published on 20 February 2007

Construction, alignment and analysis of twelve framework physical maps that represent the ten genome types of the genus Oryza

scientific article published on 28 February 2008

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes

scientific article published on 19 December 2011

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

scientific article

DNA methylation in mice is influenced by genetics as well as sex and life experience

scientific article published in Nature Communications

DNA methylome and transcriptome sequencing in human ovarian granulosa cells links age-related changes in gene expression to gene body methylation and 3'-end GC density

scientific article published on February 2015

De Novo assembly of the goldfish ( Carassius auratus ) genome and the evolution of genes after whole genome duplication

article

De novo assembly of the goldfish (Carassius auratus) genome and the evolution of genes after whole-genome duplication.

scientific article published on 26 June 2019

De novo identification of VRC01 class HIV-1-neutralizing antibodies by next-generation sequencing of B-cell transcripts

scientific article published on 08 October 2013

Detection and visualization of differential splicing in RNA-Seq data with JunctionSeq

scientific article

Developmental Pathway of the MPER-Directed HIV-1-Neutralizing Antibody 10E8

scientific article

Developmental pathway for potent V1V2-directed HIV-neutralizing antibodies

scientific article

Early-onset stroke and vasculopathy associated with mutations in ADA2

scientific article

Enhanced potency of a broadly neutralizing HIV-1 antibody in vitro improves protection against lentiviral infection in vivo

scientific article

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot

Evaluation of variant detection software for pooled next-generation sequence data

scientific article

Evolutionary dynamism of the primate LRRC37 gene family

scientific article

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants

scientific article published on 17 February 2017

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

scientific article

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

scientific article

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

scientific article

Exome sequencing: the sweet spot before whole genomes

scientific article

Extent of linkage disequilibrium in the domestic cat, Felis silvestris catus, and its breeds

scientific article published on 7 January 2013

Extreme mitochondrial evolution in the ctenophore Mnemiopsis leidyi: Insight from mtDNA and the nuclear genome ⬇️

scientific article (publication date: August 2011)

First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation

scientific article

Focused Evolution of HIV-1 Neutralizing Antibodies Revealed by Structures and Deep Sequencing

scientific article

Functional constraint and small insertions and deletions in the ENCODE regions of the human genome

scientific article published on January 2007

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

scientific article

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

scientific article

Gene-Specific Substitution Profiles Describe the Types and Frequencies of Amino Acid Changes during Antibody Somatic Hypermutation

scientific article

Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans

scientific article

Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis

scientific article

Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation

scientific article published on 6 September 2011

Genome-wide detection and characterization of positive selection in human populations

scientific article

Genomic features defining exonic variants that modulate splicing

scientific article

Genomic insights into Wnt signaling in an early diverging metazoan, the ctenophore Mnemiopsis leidyi

scientific article

Genomic resources for the endangered Hawaiian honeycreepers

scientific article

Great ape genetic diversity and population history

scientific article published on 03 July 2013

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

scientific article

Human genome sequence variation and the influence of gene history, mutation and recombination

scientific article

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

scientific article published in June 2007

Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations

scientific article

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism

scientific article

Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines

scientific article

Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites

scientific article

Incidental medical information in whole-exome sequencing

scientific article

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations

scientific article published on June 2015

Initial sequence and comparative analysis of the cat genome

scientific article

Initial sequencing and analysis of the human genome

scientific article published on 15 February 2001

Initial sequencing and comparative analysis of the mouse genome

scientific article

Insights into hominid evolution from the gorilla genome sequence

scientific article

Integrative DNA, RNA, and protein evidence connects TREML4 to coronary artery calcification

scientific article

Interpreting secondary cardiac disease variants in an exome cohort

scientific article published on 16 July 2013

Light whole genome sequence for SNP discovery across domestic cat breeds

scientific article

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

scientific article

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

scientific article published on 7 December 2015

Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression

scientific article

Mapping Complex Traits in a Diversity Outbred F1 Mouse Population Identifies Germline Modifiers of Metastasis in Human Prostate Cancer

scientific article published on 25 November 2016

Mapping and sequencing of structural variation from eight human genomes

scientific article

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

scientific article

Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting

scientific article

Maturation Pathway from Germline to Broad HIV-1 Neutralizer of a CD4-Mimic Antibody

scientific article

Maturation and Diversity of the VRC01-Antibody Lineage over 15 Years of Chronic HIV-1 Infection

scientific article

Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans

scientific article (publication date: October 2007)

Microsatellites are molecular clocks that support accurate inferences about history

scientific article (publication date: May 2009)

Mining the antibodyome for HIV-1-neutralizing antibodies with next-generation sequencing and phylogenetic pairing of heavy/light chains

scientific article published on 27 March 2013

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

scientific article published on 26 January 2017

Multidonor Analysis Reveals Structural Elements, Genetic Determinants, and Maturation Pathway for HIV-1 Neutralization by VRC01-Class Antibodies

scientific article

Mutational analysis of the tyrosine kinome in serous and clear cell endometrial cancer uncovers rare somatic mutations in TNK2 and DDR1

scientific article

Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes

scientific article

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

scientific article published on 20 February 2017

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

scientific journal article

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering

scientific article

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

scientific article published on 11 December 2019

Neurotranscriptomics: The Effects of Neonatal Stimulus Deprivation on the Rat Pineal Transcriptome

scientific article published on 14 September 2015

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

scientific article published on March 2013

Nuclear receptors from the ctenophore Mnemiopsis leidyi lack a zinc-finger DNA-binding domain: lineage-specific loss or ancestral condition in the emergence of the nuclear receptor superfamily?

scientific article published in 2011

Personalized genomic medicine: lessons from the exome

scientific article

Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy

scientific article published on 21 December 2016

Predisposition to cancer caused by genetic and functional defects of mammalian Atad5

scientific article

Proposed standard for image cytometry data files

scientific article (publication date: 1990)

Prospective Evaluation of Kidney Disease in Joubert Syndrome

scientific article published on 16 November 2017

QoRTs: a comprehensive toolset for quality control and data processing of RNA-Seq experiments

scientific article

RARE VARIANTS IN SORT1 ASSOCIATE WITH CORONARY ARTERY CALCIUM IN THE CLINSEQ STUDY

Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene

scientific article

Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data

scientific article

Reproduction and immunity-driven natural selection in the human WFDC locus

scientific article published on 4 January 2013

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

scientific article

Sequence diversity of Pan troglodytes subspecies and the impact of WFDC6 selective constraints in reproductive immunity

scientific article published on January 2013

Sequences, annotation and single nucleotide polymorphism of the major histocompatibility complex in the domestic cat

scientific article

Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A

scientific article

Shimmer: detection of genetic alterations in tumors using next-generation sequence data

scientific article

Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae

scientific article

Somatic Populations of PGT135-137 HIV-1-Neutralizing Antibodies Identified by 454 Pyrosequencing and Bioinformatics

scientific article

Specific inactivation of two immunomodulatory SIGLEC genes during human evolution

scientific article

Specifying and sustaining pigmentation patterns in domestic and wild cats

scientific article

StellaBase: the Nematostella vectensis Genomics Database

scientific article

Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation

scientific article

Structural Repertoire of HIV-1-Neutralizing Antibodies Targeting the CD4 Supersite in 14 Donors

scientific article

Structures of HIV-1 Env V1V2 with broadly neutralizing antibodies reveal commonalities that enable vaccine design

scientific article

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants

scientific article published on 04 February 2016

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

scientific article

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family

scientific article published on 23 July 2016

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scientific article

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease

scientific article

Telomere-to-telomere assembly of a complete human X chromosome

scientific article published on 14 July 2020

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

scientific article published on 14 July 2009

The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

scientific article

The bonobo genome compared with the chimpanzee and human genomes

scientific article

The cnidarian-bilaterian ancestor possessed at least 56 homeoboxes: evidence from the starlet sea anemone, Nematostella vectensis

scientific article (publication date: 2006)

The complete genome sequence of a Neanderthal from the Altai Mountains

scientific article

The evolution of comparative genomics

scientific article

The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics

scientific article published in November 2003

The homeodomain complement of the ctenophore Mnemiopsis leidyi suggests that Ctenophora and Porifera diverged prior to the ParaHoxozoa

scientific article

The mosaic structure of variation in the laboratory mouse genome

scientific article published in Nature

The phusion assembler

scientific article published on January 2003

The transcription factors Ets1 and Sox10 interact during murine melanocyte development

scientific article

Using exome data to identify malignant hyperthermia susceptibility mutations

scientific article

Vaccine-Induced Antibodies that Neutralize Group 1 and Group 2 Influenza A Viruses

scientific article

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

scientific article

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

scientific article

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