Hiva Fassihi

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Germline selection shapes human mitochondrial DNA diversity

Wei Wei, Salih Tuna, Michael J. Keogh et al. · Science · 2019 · 251 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

Kazuya Kashiyama, Yuka Nakazawa, Daniela T. Pilz et al. · The American Journal of Human Genetics · 2013 · 205 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Hiva Fassihi, Mieran Sethi, Heather Fawcett et al. · Proceedings of the National Academy of Sciences · 2016 · 194 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Proof of principle and first cases using preimplantation genetic haplotyping – a paradigm shift for embryo diagnosis

Pamela Renwick, Jane Trussler, Elham Ostad-Saffari et al. · Reproductive BioMedicine Online · 2006 · 152 citations

Veterinary Medicine, Genetics, Molecular Genetics +14