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Author Details

James C Mullikin
National Human Genome Research Institute, National Institutes of Health
1985
213
87
PMIDPaper TitleJournal TitlePublished Year
36942736Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.Am J Med Genet A2023
37786714The genome of the colonial hydroid <i>Hydractinia</i> reveals their stem cells utilize a toolkit of evolutionarily shared genes with all animals.bioRxiv2023
36942736Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.Am J Med Genet A2023
36789433Genomic Landscape of Patients with Germline <i>RUNX1</i> Variants and Familial Platelet Disorder with Myeloid Malignancy.bioRxiv2023
37786714The genome of the colonial hydroid <i>Hydractinia</i> reveals their stem cells utilize a toolkit of evolutionarily shared genes with all animals.bioRxiv2023
36789433Genomic Landscape of Patients with Germline <i>RUNX1</i> Variants and Familial Platelet Disorder with Myeloid Malignancy.bioRxiv2023
35081118KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.PLoS One2022
36161920A family of unusual immunoglobulin superfamily genes in an invertebrate histocompatibility complex.Proc Natl Acad Sci U S A2022
35716026Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.Am J Med Genet A2022
35274497Exome sequencing identifies variants in infants with sacral agenesis.Birth Defects Res2022
35081118KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.PLoS One2022
35716026Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.Am J Med Genet A2022
36161920A family of unusual immunoglobulin superfamily genes in an invertebrate histocompatibility complex.Proc Natl Acad Sci U S A2022
35274497Exome sequencing identifies variants in infants with sacral agenesis.Birth Defects Res2022
34355505Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.Am J Med Genet A2021
33681653Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and <i>SAMD12</i> intronic repeat expansion.Epilepsia Open2021
34355505Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.Am J Med Genet A2021
33681653Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and <i>SAMD12</i> intronic repeat expansion.Epilepsia Open2021
32315356Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans.PLoS One2020
32315356Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans.PLoS One2020
31827281Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.Nature2020
31871193<i>HLA</i> and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry.Proc Natl Acad Sci U S A2020
32541955A robust benchmark for detection of germline large deletions and insertions.Nat Biotechnol2020
32699374Author Correction: A robust benchmark for detection of germline large deletions and insertions.Nat Biotechnol2020
32724039Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas.Sci Rep2020
33108101Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease.N Engl J Med2020
31871193<i>HLA</i> and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry.Proc Natl Acad Sci U S A2020
31827281Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.Nature2020
33108101Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease.N Engl J Med2020
32699374Author Correction: A robust benchmark for detection of germline large deletions and insertions.Nat Biotechnol2020
32724039Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas.Sci Rep2020
32541955A robust benchmark for detection of germline large deletions and insertions.Nat Biotechnol2020
30722027Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas.Neuro Oncol2019
31616371Single Cell Sequencing of the Pineal Gland: The Next Chapter.Front Endocrinol (Lausanne)2019
30722027Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas.Neuro Oncol2019
31348886Antibody Lineages with Vaccine-Induced Antigen-Binding Hotspots Develop Broad HIV Neutralization.Cell2019
31249862De novo assembly of the goldfish (<i>Carassius auratus</i>) genome and the evolution of genes after whole-genome duplication.Sci Adv2019
31328417Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.Birth Defects Res2019
31616371Single Cell Sequencing of the Pineal Gland: The Next Chapter.Front Endocrinol (Lausanne)2019
31328417Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.Birth Defects Res2019
31348886Antibody Lineages with Vaccine-Induced Antigen-Binding Hotspots Develop Broad HIV Neutralization.Cell2019
31249862De novo assembly of the goldfish (<i>Carassius auratus</i>) genome and the evolution of genes after whole-genome duplication.Sci Adv2019
29112083Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.J Pediatr Gastroenterol Nutr2018
28940304The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas.Cancer2018
30122538Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.Am J Hum Genet2018
30055837Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.Ophthalmology2018
29992659Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.Hum Mutat2018
29098742A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.Hum Mutat2018
29548671A Neutralizing Antibody Recognizing Primarily N-Linked Glycan Targets the Silent Face of the HIV Envelope.Immunity2018
29112083Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.J Pediatr Gastroenterol Nutr2018
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Collaborators

Nancy F Hansen
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William A Gahl
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Co-authored papers 31
Praveen F Cherukuri
Sanford School of Medicine, University of South Dakota
Co-authored papers 22
Eric D Green
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Co-authored papers 21
Leslie G Biesecker
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Lawrence Shapiro
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Co-authored papers 17
Peter D Kwong
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John R Mascola
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May Christine V Malicdan
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Alice C Young
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Settara C Chandrasekharappa
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Jamie K Teer
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Jane Rogers
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Co-authored papers 14
Donna M Muzny
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Richard A Gibbs
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Mark K Louder
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Richard K Wilson
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Robert W Blakesley
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David R Bentley
Illumina Cambridge Ltd.
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Chris Clee
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Krisha McKee
Co-authored papers 10
David R Adams
National Human Genome Research Institute, National Institutes of Health
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Nick Patterson
Harvard University
Co-authored papers 10
Eric S Lander
Vanderbilt-Ingram Cancer Center, Vanderbilt University
Co-authored papers 10
Camilo Toro
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 10
Ivelin S Georgiev
Co-authored papers 10
Yongping Yang
Co-authored papers 10
Evan E Eichler
University of Washington
Co-authored papers 10
Release 1.2