Akash Kumar

Employment

Employment history is unavailable.

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (18)

• Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
  American Journal of Medical Genetics Part A 2025 DOI: 10.1002/ajmg.a.64048
  +Save
• Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic
  Journal of Translational Medicine 2023 DOI: 10.1186/s12967-023-04243-y
  +Save
• Whole-genome risk prediction of common diseases in human preimplantation embryos
  Nature Medicine 2022 DOI: 10.1038/s41591-022-01735-0
  +Save
• Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
  American Journal of Medical Genetics Part A 2019 DOI: 10.1002/ajmg.a.61134
  +Save
• Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
  American journal of medical genetics. Part A 2019
  +Save
• The Rhododendron genome and chromosomal organization provide insight into shared whole genome duplications across the heath family (Ericaceae).
  Genome biology and evolution 2019 DOI: 10.1093/gbe/evz245
  +Save
• Substantial interindividual and limited intraindividual genomic diversity among tumors from men with metastatic prostate cancer
  NATURE MEDICINE 2016 DOI: 10.1038/nm.4053
  +Save
• Recurrent Somatic Loss of TNFRSF14 in Classical Hodgkin Lymphoma
  GENES CHROMOSOMES & CANCER 2016 DOI: 10.1002/gcc.22331
  +Save
• Whole genome prediction for preimplantation genetic diagnosis
  GENOME MEDICINE 2015 DOI: 10.1186/s13073-015-0160-4
  +Save
• MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing
  BIOINFORMATICS 2014 DOI: 10.1093/bioinformatics/btu353
  +Save