James C. Mullikin

ScholarGPS® ID: 82332347095943

Affiliation
National Human Genome Research Institute, National Institutes of Health, Bethesda, United States
Affiliation History

Field
Life Sciences
Discipline
Genetics
Top Specialties
Mutation | Genomics | DNA | Exome Sequencing | Human Genetics | Molecular Genetics | Chromosome | Cancer | Medical Genetics | Human Mutation | Antibody | Transcriptome | Bioinformatics | Coronary Arteries | Cytometry
Metrics Summary
Publication Count
165
Predicted Citations
17,121
Predicted h-index
72
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
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Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy (journal article)
Yu, Kai | Deuitch, Natalie | Merguerian, Matthew | Cunningham, Lea | Davis, Joie | Bresciani, Erica | Diemer, Jamie | Andrews, Elizabeth | Young, Alice | Donovan, Frank | ... | Liu, Paul P.
Blood Advances, volume 8, issue 2, pages 497-511 (2024).
10.1182/bloodadvances.2023011165
Cited by (6) | Cite | Source
A family of unusual immunoglobulin superfamily genes in an invertebrate histocompatibility complex (journal article)
Huene, Aidan L. | Sanders, Steven M. | Ma, Zhiwei | Nguyen, Anh-Dao | Koren, Sergey | Michaca, Manuel H. | Mullikin, James C. | Phillippy, Adam M. | Schnitzler, Christine E. | Baxevanis, Andreas D. | Nicotra, Matthew L.
Proceedings of the National Academy of Sciences, volume 119, issue 40 (2022).
10.1073/pnas.2207374119
Cited by (7) | Cite | Source
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas (journal article)
Rudd, Meghan L. | Hansen, Nancy F. | Zhang, Xiaolu | Urick, Mary Ellen | Zhang, Suiyuan | Merino, Maria J. | Mullikin, James C. | Brody, Lawrence C. | Bell, Daphne W.
PLOS ONE, volume 17, issue 1, pages e0251286- (2022).
10.1371/journal.pone.0251286
Cited by (2) | Cite | Source
Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children (journal article)
Pitsava, Georgia | Feldkamp, Marcia L. | Pankratz, Nathan | Lane, John | Kay, Denise M. | Conway, Kristin M. | Shaw, Gary M. | Reefhuis, Jennita | Jenkins, Mary M. | Almli, Lynn M. | ... | Mills, James L.
American Journal of Medical Genetics Part A, volume 185, issue 10, pages 3028-3041 (2021).
10.1002/ajmg.a.62439
Cited by (5) | Cite | Source
Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion (journal article)
Zhou, Yongxing | Sood, Raman | Wang, Qun | Carrington, Blake | Park, Morgan | Young, Alice C. | Birnbaum, Daniel | Liu, Zhao | Ashizawa, Tetsuo | Mullikin, James C. | ... | Liu, Paul
Epilepsia Open, volume 6, issue 1, pages 102-111 (2021).
10.1002/epi4.12450
Cited by (8) | Cite | Source
Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas (journal article)
Pemov, Alexander | Dewan, Ramita | Hansen, Nancy F. | Chandrasekharappa, Settara C. | Ray-Chaudhury, Abhik | Jones, Kristine | Luo, Wen | Heiss, John D. | Mullikin, James C. | Chittiboina, Prashant | ... | Asthagiri, Ashok R.
Scientific Reports, volume 10, issue 1 (2020).
10.1038/s41598-020-69074-z
Cited by (15) | Cite | Source
Admixture mapping identifies genetic regions associated with blood pressure phenotypes in African Americans (journal article)
Liu, Zhi | Shriner, Daniel | Hansen, Nancy F. | Rotimi, Charles N. | Mullikin, James C.
PLOS ONE, volume 15, issue 4, pages e0232048- (2020).
10.1371/journal.pone.0232048
Cited by (8) | Cite | Source
Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data (journal article)
Jenkins, Mary M. | Almli, Lynn M. | Pangilinan, Faith | Chong, Jessica X. | Blue, Elizabeth E. | Shapira, Stuart K. | White, Janson | McGoldrick, Daniel | Smith, Joshua D. | Mullikin, James C. | ... | Reefhuis, Jennita
Birth Defects Research, volume 111, issue 20, pages 1618-1632 (2019).
10.1002/bdr2.1554
Cited by (9) | Cite | Source
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1–associated atypical neurofibromas (journal article)
Pemov, Alexander | Hansen, Nancy F | Sindiri, Sivasish | Patidar, Rajesh | Higham, Christine S | Dombi, Eva | Miettinen, Markku M | Fetsch, Patricia | Brems, Hilde | Chandrasekharappa, Settara C | ... | Stewart, Douglas R
Neuro-Oncology, volume 21, issue 8, pages 981-992 (2019).
10.1093/neuonc/noz028
Cited by (67) | Cite | Source
De novo assembly of the goldfish ( Carassius auratus ) genome and the evolution of genes after whole-genome duplication (journal article)
Chen, Zelin | Omori, Yoshihiro | Koren, Sergey | Shirokiya, Takuya | Kuroda, Takuo | Miyamoto, Atsushi | Wada, Hironori | Fujiyama, Asao | Toyoda, Atsushi | Zhang, Suiyuan | ... | Burgess, Shawn M.
Science Advances, volume 5, issue 6 (2019).
10.1126/sciadv.aav0547
Cited by (130) | Cite | Source
DNA methylation in mice is influenced by genetics as well as sex and life experience (journal article)
Grimm, Sara A. | Shimbo, Takashi | Takaku, Motoki | Thomas, James W. | Auerbach, Scott | Bennett, Brian D. | Bucher, John R. | Burkholder, Adam B. | Day, Frank | Du, Ying | ... | Wade, Paul A.
Nature Communications, volume 10, issue 1 (2019).
10.1038/s41467-018-08067-z
Cited by (36) | Cite | Source
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center (journal article)
Brooks, Brian P. | Zein, Wadih M. | Thompson, Amy H. | Mokhtarzadeh, Maryam | Doherty, Daniel A. | Parisi, Melissa | Glass, Ian A. | Malicdan, May C. | Vilboux, Thierry | Vemulapalli, Meghana | ... | Gunay-Aygun, Meral
Ophthalmology, volume 125, issue 12, pages 1937-1952 (2018).
10.1016/j.ophtha.2018.05.026
Cited by (39) | Cite | Source | Open Access
Common 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 (journal article)
Roessler, Erich | Hu, Ping | Marino, Juliana | Hong, Sungkook | Hart, Rachel | Berger, Seth | Martinez, Ariel | Abe, Yu | Kruszka, Paul | Thomas, James W. | ... | Muenke, Maximilian
Human Mutation, volume 39, issue 10, pages 1416-1427 (2018).
10.1002/humu.23590
Cited by (24) | Cite | Source
De Novo assembly of the goldfish (Carassius auratus) genome and the evolution of genes after whole genome duplication (journal article)
Chen, Zelin | Omori, Yoshihiro | Koren, Sergey | Shirokiya, Takuya | Kuroda, Takuo | Miyamoto, Atsushi | Wada, Hironori | Fujiyama, Asao | Toyoda, Atsushi | Zhang, Suiyuan | ... | Burgess, Shawn M.
bioRxiv (2018).
10.1101/373431
Cited by (3) | Cite | Source | Open Access
Genome assembly and gene expression in the American black bear provides new insights into the renal response to hibernation. (journal article)
Srivastiva, Anuj | Sarsani, Vishal Kumar | Fiddes, Ian T | Sheehan, Susan | Seger, Rita | Barter, Mary | Neptune-Bear, Selena | Lindqvist, Charlotte | Brody, Lawrence C. | Mullikin, Jim | Korstanje, Ron
bioRxiv (2018).
10.1101/316596
Cite | Source | Open Access
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center (journal article)
Strongin, Anna | Heller, Theo | Doherty, Dan | Glass, Ian A. | Parisi, Melissa A. | Bryant, Joy | Choyke, Peter | Turkbey, Baris | Daryanani, Kailash | Yildirimli, Deniz | ... | Gunay‐Aygun, Meral
Journal of Pediatric Gastroenterology and Nutrition, volume 66, issue 3, pages 428-435 (2018).
10.1097/MPG.0000000000001816
Cited by (21) | Cite | Source
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families (journal article)
Kimble, Danielle C. | Lach, Francis P. | Gregg, Siobhan Q. | Donovan, Frank X. | Flynn, Elizabeth K. | Kamat, Aparna | Young, Alice | Vemulapalli, Meghana | Thomas, James W. | Mullikin, James C. | ... | Chandrasekharappa, Settara C.
Human Mutation, volume 39, issue 2, pages 237-254 (2018).
10.1002/humu.23366
Cited by (31) | Cite | Source
The FOXA2 transcription factor is frequently somatically mutated in uterine carcinosarcomas and carcinomas (journal article)
Le Gallo, Matthieu | Rudd, Meghan L. | Urick, Mary Ellen | Hansen, Nancy F. | Merino, Maria J. | Mutch, David G. | Goodfellow, Paul J. | Mullikin, James C. | Bell, Daphne W.
Cancer, volume 124, issue 1, pages 65-73 (2018).
10.1002/cncr.30971
Cited by (26) | Cite | Source
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 (journal article)
Dewan, Ramita | Pemov, Alexander | Dutra, Amalia S. | Pak, Evgenia D. | Edwards, Nancy A. | Ray-Chaudhury, Abhik | Hansen, Nancy F. | Chandrasekharappa, Settara C. | Mullikin, James C. | Asthagiri, Ashok R. | ... | Germanwala, Anand V.
BMC Cancer, volume 17, issue 1 (2017).
10.1186/s12885-017-3127-6
Cited by (10) | Cite | Source | Open Access
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50 (journal article)
Chandrasekharappa, Settara C. | Chinn, Steven B. | Donovan, Frank X. | Chowdhury, Naweed I. | Kamat, Aparna | Adeyemo, Adebowale A. | Thomas, James W. | Vemulapalli, Meghana | Hussey, Caroline S. | Reid, Holly H. | ... | Sturgis, Erich M.
Cancer, volume 123, issue 20, pages 3943-3954 (2017).
10.1002/cncr.30802
Cited by (38) | Cite | Source | Open Access