James C. Mullikin

Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

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Papers137 papers

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Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas

Alexander Pemov,Ramita Dewan,Nancy F Hansen,Settara C Chandrasekharappa,Abhik Ray-Chaudhury,Kristine Jones, Wen Luo,John D Heiss,James C Mullikin,Prashant Chittiboina,Douglas R Stewart,Ashok R Asthagiri

Scientific reports, no. 1 (2020): 12563

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

Justin M. Zook,Nancy F. Hansen,Nathan D. Olson, Lesley Chapman,James C. Mullikin,Chunlin Xiao,Stephen Sherry,Sergey Koren,Adam M. Phillippy,Paul C. Boutros, Sayed Mohammad E. Sahraeian, Vincent Huang

Nature Biotechnology, no. 11 (2020): 1357-1357

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A robust benchmark for detection of germline large deletions and insertions

Justin M Zook,Nancy F Hansen,Nathan D Olson, Lesley Chapman,James C Mullikin,Chunlin Xiao,Stephen Sherry,Sergey Koren,Adam M Phillippy,Paul C Boutros, Sayed Mohammad E Sahraeian, Vincent Huang

Nature biotechnology, pp.1-9, (2020)

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

Sara A Grimm, Takashi Shimbo, Motoki Takaku,James W Thomas,Scott Auerbach, Brian D Bennett,John R Bucher, Adam B Burkholder, Frank Day, Ying Du, Christopher G Duncan,John E French

Nature communications, no. 1 (2019): 305

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

Zelin Chen,Yoshihiro Omori,Sergey Koren, Takuya Shirokiya, Takuo Kuroda, Atsushi Miyamoto,Hironori Wada,Asao Fujiyama,Atsushi Toyoda, Suiyuan Zhang,Tyra G Wolfsberg,Koichi Kawakami

Science advances, no. 6 (2019)

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Single Cell Sequencing of the Pineal Gland: The Next Chapter

Steven L. Coon, Cong Fu, Stephen Hartley, Lynne Holtzclaw, Joseph C. Mays, Michael C. Kelly,Matthew William Kelley,James C. Mullikin,Martin Fredensborg Rath,Luis E. Savastano, David Charles Klein

FRONTIERS IN ENDOCRINOLOGY, (2019)

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A robust benchmark for germline structural variant detection

Justin M. Zook,Nancy F. Hansen,Nathan D. Olson, Lesley M. Chapman,James C. Mullikin,Chunlin Xiao,Stephen Sherry,Sergey Koren,Adam M. Phillippy,Paul C. Boutros, Sayed Mohammad E. Sahraeian, Vincent Huang

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Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas

Alexander Pemov,Nancy F Hansen,Sivasish Sindiri, Rajesh Patidar, Christine S Higham,Eva Dombi,Markku M Miettinen,Patricia Fetsch,Hilde Brems,Settara Chandrasekharappa,Kristine Jones,Bin Zhu

Neuro-oncology, (2019)

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Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

Mary M Jenkins, Lynn M Almli,Faith Pangilinan,Jessica X Chong,Elizabeth E Blue,Stuart K Shapira,Janson White, Daniel McGoldrick,Joshua D Smith,James C Mullikin, Christopher J Bean,Wendy N Nembhard

BIRTH DEFECTS RESEARCH, no. 20.0 (2019): 1618.0-1632.0

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

Zelin Chen,Yoshihiro Omori,Sergey Koren, Takuya Shirokiya, Takuo Kuroda, Atsushi Miyamoto,Hironori Wada,Asao Fujiyama,Atsushi Toyoda,Suiyuan Zhang,Tyra G. Wolfsberg,Koichi Kawakami

bioRxiv, pp.373431-48, (2018)

Cited by2Bibtex

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

Ramita Dewan,Alexander Pemov,Amalia Dutra,Evgenia Pak,Nancy A. Edwards,Abhik Ray-Chaudhury,Nancy F. Hansen,Settara C. Chandrasekharappa,James C. Mullikin,Ashok R. Asthagiri,John D. Heiss,Douglas R. Stewart

BMC CANCER, no. 1 (2017): 127

Cited by1Bibtex

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Marios Kambouris,Julien Thevenon,Ariane Soldatos, Allison Cox,Joshi Stephen,Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone,James C Mullikin,Alice Masurel-Paulet,Judith St-Onge

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, no. 1 (2017): 26-35

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Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50

Settara C Chandrasekharappa,Steven B Chinn,Frank X Donovan,Naweed I Chowdhury,Aparna Kamat,Adebowale A Adeyemo,James W Thomas,Meghana Vemulapalli, Caroline S Hussey,Holly H Reid,James C Mullikin, Qingyi Wei

Cancer, (2017)

Cited by3WOSBibtex

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

Seth I. Berger,Carla Ciccone,Karen L. Simon,May Christine Malicdan,Thierry Vilboux, Charles Billington,Roxanne Fischer,Wendy J. Introne,Andrea Gropman,Jan K. Blancato,James C. Mullikin,Nisc Comparative Sequencing Program

Human Genetics, no. 4 (2017): 409-420

Cited by5Bibtex

The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas

Matthieu Le Gallo,Meghan L Rudd,Mary Ellen Urick,Nancy F Hansen, Maria J Merino,David G Mutch,Paul J Goodfellow,James C Mullikin,Daphne W Bell

Cancer, (2017)

Cited by3WOSBibtex

Prospective Evaluation of Kidney Disease in Joubert Syndrome

Leah R Fleming,Daniel A Doherty,Melissa A Parisi,Ian A Glass,Joy Bryant,Roxanne Fischer,Baris Turkbey,Peter Choyke,Kailash Daryanani,Meghana Vemulapalli,James C Mullikin,May Christine Malicdan

Clinical journal of the American Society of Nephrology : CJASN, (2017)

Cited by8WOSBibtex

iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations

Erika M. Kwon, John P. Connelly,Nancy F. Hansen,Frank X. Donovan,Thomas Winkler,Brian W. Davis, Halah Alkadi,Settara C. Chandrasekharappa,Cynthia E. Dunbar,James C. Mullikin,Paul Liu

Proceedings of the National Academy of Sciences of the United States of America, no. 8 (2017): 1964-1969

Cited by14WOSBibtex

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families

Danielle C Kimble,Francis P Lach, Siobhan Q Gregg,Frank X Donovan,Elizabeth K Flynn,Aparna Kamat, Alice Young,Meghana Vemulapalli,James W Thomas,James C Mullikin,Arleen D Auerbach,Agata Smogorzewska

Human mutation, (2017)

Cited by3WOSBibtex

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

Marios Kambouris,Julien Thevenon,Ariane Soldatos,Allison J. Cox,Joshi Stephen,Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala S. Boulos,William P. Bone,James C. Mullikin,Nisc Comparative Sequencing Program,Alice Masurel-Paulet

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, no. 1 (2017): 26-35

Cited by5Bibtex

The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas

Alexander Pemov, H Li,R Patidar,N F Hansen,S Sindiri,S W Hartley,J S Wei,A Elkahloun,Settara C. Chandrasekharappa,J F Boland, S Bass,J C Mullikin

Oncogene, no. 22 (2017): 3168-3177

Cited by12Bibtex

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