Broad-spectrum abnormal localized photosensitivity syndrome

por Butt, Sanaa, Khalid, Amina, Alani, Angela, Fityan, Adam, Fassihi, Hiva, Dawe, Robert, Ibbotson, Sally
Publicado 2021

Xeroderma pigmentosum is a definite cause of Huntington's disease‐like syndrome

por Garcia‐Moreno, Hector, Fassihi, Hiva, Sarkany, Robert P.E., Phukan, Julie, Warner, Thomas, Lehmann, Alan R., Giunti, Paola
Publicado 2017

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers

por Fernandez, Elvelyn R., Tamura, Deborah, Khan, Sikandar G., Momen, Sophie, Fassihi, Hiva, Sarkany, Robert, DiGiovanna, John J., Kraemer, Kenneth H.
Publicado 2023

Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in...

por Momen, Sophie, Fassihi, Hiva, Davies, Helen R., Nikolaou, Christos, Degasperi, Andrea, Stefanato, Catherine M., Dias, Joao M. L., Dasgupta, Dhruba, Craythorne, Emma, Sarkany, Robert, Papa, Sophie, Nik-Zainal, Serena
Publicado 2019

Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients

por Yurchenko, Andrey A., Rajabi, Fatemeh, Braz-Petta, Tirzah, Fassihi, Hiva, Lehmann, Alan, Nishigori, Chikako, Wang, Jinxin, Padioleau, Ismael, Gunbin, Konstantin, Panunzi, Leonardo, Morice-Picard, Fanny, Laplante, Pierre, Robert, Caroline, Kannouche, Patricia L., Menck, Carlos F. M., Sarasin, Alain, Nikolaev, Sergey I.
Publicado 2023

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression

por Garcia-Moreno, Hector, Langbehn, Douglas R, Abiona, Adesoji, Garrood, Isabel, Fleszar, Zofia, Manes, Marta Antonia, Morley, Ana M Susana, Craythorne, Emma, Mohammed, Shehla, Henshaw, Tanya, Turner, Sally, Naik, Harsha, Bodi, Istvan, Sarkany, Robert P E, Fassihi, Hiva, Lehmann, Alan R, Giunti, Paola
Publicado 2023

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

por Stafki, Seth A., Turner, Johnnie, Littel, Hannah R., Bruels, Christine C., Truong, Don, Knirsch, Ursula, Stettner, Georg M., Graf, Urs, Berger, Wolfgang, Kinali, Maria, Jungbluth, Heinz, Pacak, Christina A., Hughes, Jayne, Mirchi, Amytice, Derksen, Alexa, Vincent-Delorme, Catherine, Theil, Arjan F., Bernard, Geneviève, Ellis, David, Fassihi, Hiva, Lehmann, Alan R., Laugel, Vincent, Mohammed, Shehla, Kang, Peter B.
Publicado 2023