Amalia Dutra

National Human Genome Research Institute — United States

Agricultural and Biological Sciences · Life Sciences

33h-index18.4kcitations67works39.02yr avg
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Research Topics

Chromosomal and Genetic Variations(11), Genomics and Chromatin Dynamics(8), CRISPR and Genetic Engineering(6), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities(6), Hedgehog Signaling Pathway Studies(6)

Publications67 total

Transgene-Induced Chromosomal Rearrangement With Aberrant Human Vascular Endothelial Growth Factor at the Optic Fissure Leads to Uveal Coloboma in Mice
Investigative Ophthalmology & Visual Science·2025Open Access
Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)
Stem Cell Research·2024· 2 citedOpen Access
The complete sequence and comparative analysis of ape sex chromosomes
Nature·2024· 115 citedOpen Access
A resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic disorders
Translational Psychiatry·2023· 5 citedOpen Access
The human Y and inactive X chromosomes similarly modulate autosomal gene expression
Cell Genomics·2023· 45 citedOpen Access
The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes
2023· 24 citedOpen Access
Low mutation rate in epaulette sharks is consistent with a slow rate of evolution in sharks
Nature Communications·2023· 35 citedOpen Access
The human Y and inactive X chromosomes similarly modulate autosomal gene expression
2023· 15 citedOpen Access
The human inactive X chromosome modulates expression of the active X chromosome
Cell Genomics·2023· 80 citedOpen Access
The human inactive X chromosome modulates expression of the active X chromosome
2021· 14 citedOpen Access
Genome-Edited Coincidence and PMP22-HiBiT Fusion Reporter Cell Lines Enable an Artifact-Suppressive Quantitative High-Throughput Screening Strategy for <i>PMP22</i> Gene-Dosage Disorder Drug Discovery
ACS Pharmacology & Translational Science·2021· 8 citedOpen Access
Telomere-to-telomere assembly of a complete human X chromosome
Nature·2020· 784 citedOpen Access
Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines
Stem Cell Research·2020· 6 citedOpen Access
Telomere-to-telomere assembly of a complete human X chromosome
2019· 114 citedOpen Access
Multiomic Profiling Identifies cis-Regulatory Networks Underlying Human Pancreatic β Cell Identity and Function
Cell Reports·2019· 82 citedOpen Access
EndoC-βH1 multi-genomic profiling defines gene regulatory programs governing human pancreatic β cell identity and function
2018· 1 citedOpen Access
Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer
Human Molecular Genetics·2018· 28 citedOpen Access
A new glucocerebrosidase deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease
Disease Models & Mechanisms·2016· 25 citedOpen Access
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family
Human Genetics·2015· 24 citedOpen Access
Long term maintenance of myeloid leukemic stem cells cultured with unrelated human mesenchymal stromal cells
Stem Cell Research·2014· 55 citedOpen Access
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Frequent Co-authors

Evgenia Pak(31), Maximilian Muenke(7), Evan E. Eichler(5), Adam M. Phillippy(5), Karen H. Miga(4), Sergey Koren(4), Arang Rhie(4), Shelise Brooks(4), Tamara Potapova(4), Gerard G. Bouffard(4), Benedict Paten(4), Alice Young(4), Jennifer L. Gerton(4), Adrianna K. San Roman(4), Alexander K. Godfrey(4), Helen Skaletsky(4), Daniel W. Bellott(4), Laura V. Blanton(4), Jennifer F. Hughes(4), Sidaly Phou(4)