Klaus Schmitz-Abe
Harvard University
8 Papers
15 Citations
Klaus Schmitz-Abe is an academic researcher from Harvard University. The author has contributed to research in topics: Genome-wide association study & Exome sequencing. The author has an hindex of 6, co-authored 8 publications. Previous affiliations of Klaus Schmitz-Abe include Boston Children's Hospital.
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Papers
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Timothy W. Yu,Maria H. Chahrour,Michael E. Coulter,Sarn Jiralerspong,Kazuko Okamura-Ikeda,Bulent Ataman,Klaus Schmitz-Abe,David A. Harmin,Mazhar Adli,Athar N. Malik,Alissa M. D'Gama,Elaine T. Lim,Stephen Sanders,Ganesh H. Mochida,Jennifer N. Partlow,Christine M. Sunu,Jillian M. Felie,Jacqueline Rodriguez,Ramzi Nasir,Janice Ware,Robert M. Joseph,R. Sean Hill,Benjamin Y. Kwan,Muna Al-Saffar,Muna Al-Saffar,Nahit Motavalli Mukaddes,Asif Hashmi,Soher Balkhy,Generoso G. Gascon,Generoso G. Gascon,Generoso G. Gascon,Fuki M. Hisama,Elaine LeClair,Annapurna Poduri,Ozgur Oner,Samira Al-Saad,S. A. Al-Awadi,Laila Bastaki,Tawfeg Ben-Omran,Tawfeg Ben-Omran,Ahmad S. Teebi,Ahmad S. Teebi,Lihadh Al-Gazali,Valsamma Eapen,Christine Stevens,Leonard Rappaport,Stacey Gabriel,Kyriacos Markianos,Matthew W. State,Michael E. Greenberg,Hisaaki Taniguchi,Nancy Braverman,Eric M. Morrow,Christopher A. Walsh +53 more
TL;DR: The utility of whole-exome sequencing for identifying specific genetic conditions not clinically suspected and the importance of partial loss of gene function in ASDs are shown.
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Notch4 signaling limits regulatory T-cell-mediated tissue repair and promotes severe lung inflammation in viral infections.
Hani Harb,Hani Harb,Mehdi Benamar,Mehdi Benamar,Peggy S. Lai,Paola Contini,Jason W. Griffith,Elena Crestani,Elena Crestani,Klaus Schmitz-Abe,Klaus Schmitz-Abe,Qian Chen,Qian Chen,Jason Jun Hung Fong,Jason Jun Hung Fong,Luca Marri,Gilberto Filaci,Genny Del Zotto,Novalia Pishesha,Novalia Pishesha,Stephen C. Kolifrath,Stephen C. Kolifrath,Achille Broggi,Achille Broggi,Sreya Ghosh,Sreya Ghosh,Metin Yusuf Gelmez,Fatma Betul Oktelik,Esin Aktas Cetin,Ayca Kiykim,Murat Kose,Ziwei Wang,Ziwei Wang,Ye Cui,Ye Cui,Xu G. Yu,Jonathan Z. Li,Lorenzo Berra,Emmanuel Stephen-Victor,Emmanuel Stephen-Victor,Louis-Marie Charbonnier,Louis-Marie Charbonnier,Ivan Zanoni,Ivan Zanoni,Hidde L. Ploegh,Hidde L. Ploegh,Günnur Deniz,Raffaele De Palma,Talal A. Chatila,Talal A. Chatila +49 more
TL;DR: Notch4 expression on Treg cells dynamically restrains amphiregulin-dependent tissue repair to promote severe lung inflammation, with therapeutic implications for COVID-19 and related infections.
89
•Journal Article
A Novel Rat Model of Hereditary Hemochromatosis Due to a Mutation in Transferrin Receptor 2
Thomas B. Bartnikas,Sheryl Wildt,Amy E Wineinger,Klaus Schmitz-Abe,Kyriacos Markianos,Dale M. Cooper,Mark D. Fleming +6 more
TL;DR: In this paper, the authors characterized the pathophysiology of the hereditary liver iron overload in rats and showed that the phenotype is heritable and due to a mutation in a single gene.
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A Novel Rat Model of Hereditary Hemochromatosis Due to a Mutation in Transferrin Receptor 2
Thomas B. Bartnikas,Sheryl Wildt,Amy E Wineinger,Klaus Schmitz-Abe,Kyriacos Markianos,Dale M. Cooper,Mark D. Fleming +6 more
TL;DR: The pathophysiology of the iron overload was characterized and it was shown that the phenotype is heritable and due to a mutation in a single gene.
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