Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster(Tel Aviv University), Tobias B. Haack(Helmholtz Zentrum München), Thierry Vilboux(National Human Genome Research Institute), Ben Pode‐Shakked(Tel Aviv University), Beat Thöny(University of Zurich), Nan Shen(Heidelberg University), Virgínia Guarani(Harvard University), Thomas Meißner(Düsseldorf University Hospital), Ertan Mayatepek(Düsseldorf University Hospital), Friedrich K. Trefz(Heidelberg University), Dina Marek‐Yagel(Tel Aviv University), Aurora Martı́nez(University of Bergen), Edward L. Huttlin(Harvard University), João A. Paulo(Harvard University), Riccardo Berutti(Helmholtz Zentrum München), Jean‐François Benoist(Assistance Publique – Hôpitaux de Paris), Apolline Imbard(Assistance Publique – Hôpitaux de Paris), Imen Dorboz(Inserm), Gali Heimer(Tel Aviv University), Yuval E. Landau(Tel Aviv University), Limor Ziv-Strasser(Sheba Medical Center), May Christine V. Malicdan(National Human Genome Research Institute), Corinne Gemperle-Britschgi(University of Zurich), Kirsten Cremer(University of Bonn), Hartmut Engels(University of Bonn), David Meili(University of Zurich), Irene Keller(University of Bern), Rémy Bruggmann(University of Bern), Tim M. Strom(Helmholtz Zentrum München), Thomas Meitinger(Helmholtz Zentrum München), James C. Mullikin(National Human Genome Research Institute), Gerard Schwartz(Tel Aviv University), Bruria Ben‐Zeev(Tel Aviv University), William A. Gahl(Office of the Director), J. Wade Harper(Harvard University), Nenad Blau(Heidelberg University), Georg F. Hoffmann(Heidelberg University), Holger Prokisch(Helmholtz Zentrum München), Thomas Opladen(Heidelberg University), Manuel Schiff(Inserm)
The American Journal of Human Genetics
January 26, 2017
Cited by 154Open Access
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