John J DiGiovanna (J J DiGiovanna)

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 6

Top Topics

End Stage Renal Disease

Ejection Fraction

Dna Damage Response

Top Venues

The British journal of dermatology

American journal of medical genetics. Part A

Journal of endocrinological investigation

Pediatric dermatology

This page only lists publications with an associated author ORCID identifier.

Publications

John J DiGiovanna, Grant Randall, Alexandra Edelman, Rina Allawh, Michael Xiong, Deborah Tamura, Sikandar G Khan, Elizabeth R H Rizza, James C Reynolds, Scott M Paul, Suvimol C Hill, Kenneth H Kraemer
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis. American journal of medical genetics. Part A 188 (12) (2022)
John J DiGiovanna, Kenneth H Kraemer
Knowledge is power. The British journal of dermatology 186 (4) (2022)
Sandra R Oska, Deborah Tamura, Jenny E Blau, Sikandar G Khan, Kenneth H Kraemer, John J DiGiovanna
Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape. Pediatric dermatology 38 (4) (2021)
S D Kouatcheu, J Marko, D Tamura, Sikandar G Khan, Chyi-Chia Richard Lee, John J DiGiovanna, Kenneth H Kraemer
Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging. Journal of endocrinological investigation 44 (7) (2020)
Jeffrey I Cohen, Irini Manoli, Kennichi Dowdell, Tammy A Krogmann, Deborah Tamura, Pierce Radecki, Wei Bu, Siu-Ping Turk, Kelly Liepshutz, Ronald L Hornung, Hiva Fassihi, Robert P Sarkany, Lori L Bonnycastle, Peter S Chines, Amy J Swift, Timothy G Myers, Melissa A Levoska, John J DiGiovanna, Francis S Collins, Kenneth H Kraemer, Stefania Pittaluga, Elaine S Jaffe
Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites. Blood 133 (26) (2019)
D Tamura, S G Khan, John J DiGiovanna
Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health. The British journal of dermatology 176 (5) (2017)