Akash Kumar
4PUBLICATIONS
9CO-AUTHORS
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Publications (4)
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|Mar 29, 2025
Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.Liza Douiev, Paula Fernandez Alvarez, Marika Frank
|Jun 10, 2023
Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic.Stephanie U Greer, Jacquelin Botello, Donna Hongo
|Mar 22, 2022
Whole-genome risk prediction of common diseases in human preimplantation embryos.Akash Kumar, Kate Im, Milena Banjevic
|Mar 29, 2019
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.Akash Kumar, Diane B Zastrow, Elijah J Kravets
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Frequent Collaborators
1 joint publications
Diane B Zastrow
1 joint publications
Megan E Grove
1 joint publications
Jennefer N Kohler
1 joint publications
Paul G Fisher
1 joint publications
David A Stevenson
1 joint publications
Joseph T Shieh
1 joint publications
Matthew T Wheeler
1 joint publications
Jonathan A Bernstein
1 joint publications
Tamar Harel
