P
Patrick Franchini
Publications - 10
Citations - 1169
Patrick Franchini is an academic researcher. The author has contributed to research in topics: Juvenile hemochromatosis & Proband. The author has an hindex of 6, co-authored 10 publications receiving 1126 citations.
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Journal ArticleDOI
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
George Papanikolaou,Mark E. Samuels,Erwin H. Ludwig,Marcia L.E. MacDonald,Patrick Franchini,Marie-Pierre Dubé,Lisa Andres,Julie MacFarlane,Nikos Sakellaropoulos,Marianna Politou,Elizabeta Nemeth,Jay Thompson,Jenni Risler,Catherine Zaborowska,Ryan Babakaiff,C Radomski,Terry D Pape,Owen Davidas,John Christakis,Pierre Brissot,Gillian Lockitch,Tomas Ganz,Michael R. Hayden,Y. Paul Goldberg +23 more
TL;DR: The positional cloning of the locus associated with juvenile hemochromatosis is reported and the identification of a new gene crucial to iron metabolism is identified, now called HFE2, whose protein product the authors call hemojuvelin.
Journal ArticleDOI
Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans.
Liam R. Brunham,Ian Tietjen,Andrea E. Bochem,Roshni R. Singaraja,Patrick Franchini,C Radomski,Maryanne Mattice,Annick Legendre,G.K. Hovingh,J.J.P. Kastelein,Michael R. Hayden +10 more
TL;DR: Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans are identified and described in detail in Brunham LR, Tietjen I and Hayden MR.
Journal ArticleDOI
Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.
Leah M Prentice,Ruth R. Miller,Jeff Knaggs,Alborz Mazloomian,Rosalia Aguirre Hernandez,Patrick Franchini,Kourosh Parsa,Basile Tessier-Cloutier,Anna Lapuk,David G. Huntsman,David F. Schaeffer,Brandon S. Sheffield +11 more
TL;DR: The effects of pre-analytic variables introduced by routine pathology processing on specimens used for clinical reports produced by next-generation sequencing technology are examined and it is recommended that suspected intratumoral heterogeneity events be verified by re-sequencing the same FFPE block.
Journal ArticleDOI
Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol
Ian Tietjen,G. Kees Hovingh,Roshni R. Singaraja,Chris Radomski,Amina Barhdadi,Jason McEwen,Elden Chan,Maryanne Mattice,Annick Legendre,Patrick Franchini,Marie-Pierre Dubé,John J.P. Kastelein,Michael R. Hayden +12 more
TL;DR: It is shown that rare coding and splicing mutations in LIPG, CETP, and GALNT2 are enriched in persons with hyperalphalipoproteinemia and segregate with elevated HDLc in families.
Journal ArticleDOI
Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans
Roshni R. Singaraja,Ian Tietjen,G. Kees Hovingh,Patrick Franchini,Chris Radomski,Kenny K. Wong,Margaret vanHeek,Ioannis M. Stylianou,Linus S. Lin,Liangsu Wang,Lyndon J. Mitnaul,Brian K. Hubbard,Michael Winther,Maryanne Mattice,Annick Legendre,Robin Sherrington,John J.P. Kastelein,Karen O. Akinsanya,Andrew S. Plump,Michael R. Hayden,Michael R. Hayden +20 more
TL;DR: In this paper, the authors performed next-generation sequencing of 456 candidate HDLc-regulating genes in 200 unrelated probands with extremely low (≤10th percentile) or high (≥90th percentile).