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Author Details

Frank X Donovan
National Institutes of Health
2011
27
15
PMIDPaper TitleJournal TitlePublished Year
38019014Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.Blood Adv2024
36789433Genomic Landscape of Patients with Germline <i>RUNX1</i> Variants and Familial Platelet Disorder with Myeloid Malignancy.bioRxiv2023
37066159Differential Regulation of Retinoic Acid Metabolism in Fanconi Anemia.bioRxiv2023
37327787Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.Am J Hum Genet2023
36450981Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.Nature2022
35349664Studies of a mosaic patient with DBA and chimeric mice reveal erythroid cell-extrinsic contributions to erythropoiesis.Blood2022
34162668Pathogenic germline <i>IKZF1</i> variant alters hematopoietic gene expression profiles.Cold Spring Harb Mol Case Stud2021
33960719The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.Mol Genet Genomic Med2021
31513304A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.Hum Mutat2020
32106311Association of clinical severity with FANCB variant type in Fanconi anemia.Blood2020
29193904Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.Mol Genet Genomic Med2018
28322272Neuroanatomic, epigenetic and genetic differences in monozygotic twins discordant for attention deficit hyperactivity disorder.Mol Psychiatry2018
29098742A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.Hum Mutat2018
28503715Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.J Clin Immunol2017
28280134Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.J Med Genet2017
28167771iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations.Proc Natl Acad Sci U S A2017
28324009Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.J Clin Endocrinol Metab2017
28678401Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.Cancer2017
26139325Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia.Leukemia2016
26841305Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.Hum Mutat2016
26119737Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.Cell Rep2015
24412158One in four individuals of African-American ancestry harbors a 5.5kb deletion at chromosome 11q13.1.Genomics2014
25168418Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.Hum Mutat2014
23653574Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association.Mol Syndromol2013
23613520Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.Blood2013
22385660Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression.Cell Stem Cell2012
21738593Regulation of Alr1 Mg transporter activity by intracellular magnesium.PLoS One2011
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Collaborators

Settara C Chandrasekharappa
National Institutes of Health
Co-authored papers 25
Agata Smogorzewska
Instituto de Investigacion Sanitaria Hospital 12 de Octubre (imas12)
Co-authored papers 9
Arleen D Auerbach
The Rockefeller University
Co-authored papers 9
Francis P Lach
The Rockefeller University.
Co-authored papers 8
James C Mullikin
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 7
Aparna A Kamat
Houston Methodist Hospital
Co-authored papers 7
Danielle C Kimble
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 6
Nancy F Hansen
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 5
Erica Sanborn
The Rockefeller University
Co-authored papers 4
Alice C Young
Co-authored papers 3
Sharon A Savage
Clinical Genetics Branch, National Cancer Institute (NCI)
Co-authored papers 3
Elaine A Ostrander
National Cancer Institute
Co-authored papers 3
Elizabeth K Flynn
University of Michigan ann arbor
Co-authored papers 3
Lisa Mirabello
National Cancer Institute
Co-authored papers 2
Meredith Yeager
Frederick National Laboratory for Cancer Research
Co-authored papers 2
Rasim O Rosti
University of Virginia
Co-authored papers 2
Baishali Maskeri
Co-authored papers 1
Mingyi Wang
National Cancer Institute
Co-authored papers 1
Marcin Imielinski
Co-authored papers 1
Linzhao Cheng
Johns Hopkins University School of Medicine
Co-authored papers 1
Stacey Gabriel
Broad Institute of MIT and Harvard
Co-authored papers 1
Olivier Elemento
Meyer Cancer Center
Co-authored papers 1
Jamie K Teer
H. Lee Moffitt Cancer Center and Research Institute
Co-authored papers 1
Laura Elnitski
National Human Genome Research Institute
Co-authored papers 1
Belynda Hicks
Frederick National Laboratory for Cancer Research
Co-authored papers 1
Grover C Bagby
Knight Cancer Institute, Oregon Health and Science University
Co-authored papers 1
Chunlin Zou
Key Laboratory of Longevity and Aging-related Diseases(Guangxi Medical University)
Co-authored papers 1
Joseph F Boland
National Cancer Institute, National Institutes of Health, Inc.
Co-authored papers 1
Seishi Ogawa
Kyoto University
Co-authored papers 1
Huanming Yang
Experimental Research Center, China Academy of Chinese Medical Sciences
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