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This land is our land : the West Bank under Israeli occupation / Jan Metzger, Martin Orth, Christian Sterzing ; translated by Dan and Judy Bryant, Janet Goodwin and Stefan Schaaf.
Author / Creator:Metzger, J., 1956-
Publisher:London : Zed Press ; Totowa, N.J., U.S.A. : U.S. Distributor, Biblio Distribution Center, 1983.
Date:1983.
Call Numbers:N956.95/3
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ArticlesPeer ReviewedFull Text
Nicotinic acetylcholine receptors in human genetic disease
Author / Creator:Schaaf, Christian P.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2014-09, Vol.16 (9), p.649-656
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ArticlesPeer ReviewedFull Text
Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies
Author / Creator:Althammer, Ferdinand ; Muscatelli, Francoise ; Grinevich, Valery ; Schaaf, Christian P.
Publisher:London: Nature Publishing Group UK
Journal title:Translational psychiatry, 2022-08, Vol.12 (1), p.318-318, Article 318
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ArticlesPeer ReviewedFull Text
Quantitative real-time imaging of glutathione
Author / Creator:Jiang, Xiqian ; Chen, Jianwei ; Bajić, Aleksandar ; Zhang, Chengwei ; Song, Xianzhou ; Carroll, Shaina L. ; Cai, Zhao-Lin ; Tang, Meiling ; Xue, Mingshan ; Cheng, Ninghui ; Schaaf, Christian P. ; Li, Feng ; MacKenzie, Kevin R. ; Ferreon, Allan Chris M. ; Xia, Fan ; Wang, Meng C. ; Maletić-Savatić, Mirjana ; Wang, Jin
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-07, Vol.8 (1), p.16087-16087, Article 16087
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ArticlesPeer ReviewedFull Text
A framework for an evidence-based gene list relevant to autism spectrum disorder
Author / Creator:Schaaf, Christian P. ; Betancur, Catalina ; Yuen, Ryan K. C. ; Parr, Jeremy R. ; Skuse, David H. ; Gallagher, Louise ; Bernier, Raphael A. ; Buchanan, Janet A. ; Buxbaum, Joseph D. ; Chen, Chun-An ; Dies, Kira A. ; Elsabbagh, Mayada ; Firth, Helen V. ; Frazier, Thomas ; Hoang, Ny ; Howe, Jennifer ; Marshall, Christian R. ; Michaud, Jacques L. ; Rennie, Olivia ; Szatmari, Peter ; Chung, Wendy K. ; Bolton, Patrick F. ; Cook, Edwin H. ; Scherer, Stephen W. ; Vorstman, Jacob A. S.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2020-06, Vol.21 (6), p.367-376
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ArticlesPeer ReviewedFull Text
Response to Briuglia et al
Author / Creator:Marbach, Felix ; Schaaf, Christian P.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-02, Vol.23 (2), p.423-424
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ArticlesPeer ReviewedFull Text
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
Author / Creator:Schaaf, Christian P ; Gonzalez-Garay, Manuel L ; Xia, Fan ; Potocki, Lorraine ; Gripp, Karen W ; Zhang, Baili ; Peters, Brock A ; McElwain, Mark A ; Drmanac, Radoje ; Beaudet, Arthur L ; Caskey, C Thomas ; Yang, Yaping
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-11, Vol.45 (11), p.1405-1408
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ArticlesPeer ReviewedFull Text
Translational pediatrics: clinical perspective for Phelan–McDermid syndrome and autism research
Author / Creator:Sakai, Yasunari ; Okuzono, Sayaka ; Schaaf, Christian P. ; Ohga, Shouichi
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2022-08, Vol.92 (2), p.373-377
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ArticlesPeer ReviewedFull Text
Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes
Author / Creator:Yin, Jiani ; Chen, Wu ; Yang, Hongxing ; Xue, Mingshan ; Schaaf, Christian P.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-01, Vol.7 (1), p.39941-39941, Article 39941
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mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome
Author / Creator:Crutcher, Emeline ; Pal, Rituraj ; Naini, Fatemeh ; Zhang, Ping ; Laugsch, Magdalena ; Kim, Jean ; Bajic, Aleksandar ; Schaaf, Christian P.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-11, Vol.9 (1), p.15935-13, Article 15935
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ArticlesPeer ReviewedFull Text
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Author / Creator:Hsieh, Tzung-Chien ; Bar-Haim, Aviram ; Moosa, Shahida ; Ehmke, Nadja ; Gripp, Karen W. ; Pantel, Jean Tori ; Danyel, Magdalena ; Mensah, Martin Atta ; Horn, Denise ; Rosnev, Stanislav ; Fleischer, Nicole ; Bonini, Guilherme ; Hustinx, Alexander ; Schmid, Alexander ; Knaus, Alexej ; Javanmardi, Behnam ; Klinkhammer, Hannah ; Lesmann, Hellen ; Sivalingam, Sugirthan ; Kamphans, Tom ; Meiswinkel, Wolfgang ; Ebstein, Frédéric ; Krüger, Elke ; Küry, Sébastien ; Bézieau, Stéphane ; Schmidt, Axel ; Peters, Sophia ; Engels, Hartmut ; Mangold, Elisabeth ; Kreiß, Martina ; Cremer, Kirsten ; Perne, Claudia ; Betz, Regina C. ; Bender, Tim ; Grundmann-Hauser, Kathrin ; Haack, Tobias B. ; Wagner, Matias ; Brunet, Theresa ; Bentzen, Heidi Beate ; Averdunk, Luisa ; Coetzer, Kimberly Christine ; Lyon, Gholson J. ; Spielmann, Malte ; Schaaf, Christian P. ; Mundlos, Stefan ; Nöthen, Markus M. ; Krawitz, Peter M.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2022-03, Vol.54 (3), p.349-357
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ArticlesPeer ReviewedFull Text
An estimation of the prevalence of genomic disorders using chromosomal microarray data
Author / Creator:Gillentine, Madelyn A. ; Lupo, Philip J. ; Stankiewicz, Pawel ; Schaaf, Christian P.
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2018-07, Vol.63 (7), p.795-801
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ArticlesPeer ReviewedFull Text
Genetic causes of optic nerve hypoplasia
Author / Creator:Chen, Chun-An ; Yin, Jiani ; Lewis, Richard Alan ; Schaaf, Christian P
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2017-07, Vol.54 (7), p.441-449
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ArticlesPeer ReviewedFull Text
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties
Author / Creator:Han, Kihoon ; Holder Jr, J. Lloyd ; Schaaf, Christian P. ; Lu, Hui ; Chen, Hongmei ; Kang, Hyojin ; Tang, Jianrong ; Wu, Zhenyu ; Hao, Shuang ; Cheung, Sau Wai ; Yu, Peng ; Sun, Hao ; Breman, Amy M. ; Patel, Ankita ; Lu, Hui-Chen ; Zoghbi, Huda Y.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2013-11, Vol.503 (7474), p.72-77
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ArticlesPeer ReviewedFull Text
Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
Author / Creator:Lu, Hsiang-Chih ; Tan, Qiumin ; Rousseaux, Maxime W C ; Wang, Wei ; Kim, Ji-Yoen ; Richman, Ronald ; Wan, Ying-Wooi ; Yeh, Szu-Ying ; Patel, Jay M ; Liu, Xiuyun ; Lin, Tao ; Lee, Yoontae ; Fryer, John D ; Han, Jing ; Chahrour, Maria ; Finnell, Richard H ; Lei, Yunping ; Zurita-Jimenez, Maria E ; Ahimaz, Priyanka ; Anyane-Yeboa, Kwame ; Van Maldergem, Lionel ; Lehalle, Daphne ; Jean-Marcais, Nolwenn ; Mosca-Boidron, Anne-Laure ; Thevenon, Julien ; Cousin, Margot A ; Bro, Della E ; Lanpher, Brendan C ; Klee, Eric W ; Alexander, Nora ; Bainbridge, Matthew N ; Orr, Harry T ; Sillitoe, Roy V ; Ljungberg, M Cecilia ; Liu, Zhandong ; Schaaf, Christian P ; Zoghbi, Huda Y
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2017-04, Vol.49 (4), p.527-536
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ArticlesPeer ReviewedFull Text
An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in rats
Author / Creator:Iwasaki, Mai ; Lefevre, Arthur ; Althammer, Ferdinand ; Clauss Creusot, Etienne ; Łąpieś, Olga ; Petitjean, Hugues ; Hilfiger, Louis ; Kerspern, Damien ; Melchior, Meggane ; Küppers, Stephanie ; Krabichler, Quirin ; Patwell, Ryan ; Kania, Alan ; Gruber, Tim ; Kirchner, Matthew K. ; Wimmer, Moritz ; Fröhlich, Henning ; Dötsch, Laura ; Schimmer, Jonas ; Herpertz, Sabine C. ; Ditzen, Beate ; Schaaf, Christian P. ; Schönig, Kai ; Bartsch, Dusan ; Gugula, Anna ; Trenk, Aleksandra ; Blasiak, Anna ; Stern, Javier E. ; Darbon, Pascal ; Grinevich, Valery ; Charlet, Alexandre
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2023-02, Vol.14 (1), p.1066-1066, Article 1066
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Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns
Author / Creator:Titgemeyer, Sarah Catrin ; Schaaf, Christian P
Publisher:Canada: JMIR Publications
Journal title:JMIR pediatrics and parenting, 2022-01, Vol.5 (1), p.e31411-e31411
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BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel
Author / Creator:Ahmad, Olfat ; Sutter, Christian ; Hirsch, Steffen ; Pfister, Stefan M. ; Schaaf, Christian P.
Publisher:Poland: BioMed Central Ltd
Journal title:Hereditary cancer in clinical practice, 2023-07, Vol.21 (1), p.11-11, Article 11
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In-depth mutational analyses of colorectal neuroendocrine carcinomas with adenoma or adenocarcinoma components
Author / Creator:Woischke, Christine ; Schaaf, Christian W ; Yang, Hui-Min ; Vieth, Michael ; Veits, Lothar ; Geddert, Helene ; Märkl, Bruno ; Stömmer, Peter ; Schaeffer, David F ; Frölich, Matthias ; Blum, Helmut ; Vosberg, Sebastian ; Greif, Philipp A ; Jung, Andreas ; Kirchner, Thomas ; Horst, David
Publisher:New York: Elsevier Inc
Journal title:Modern pathology, 2017-01, Vol.30 (1), p.95-103
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway
Author / Creator:Enns, Gregory M. ; Shashi, Vandana ; Bainbridge, Matthew ; Gambello, Michael J. ; Zahir, Farah R. ; Bast, Thomas ; Crimian, Rebecca ; Schoch, Kelly ; Platt, Julia ; Cox, Rachel ; Bernstein, Jonathan A. ; Scavina, Mena ; Walter, Rhonda S. ; Bibb, Audrey ; Jones, Melanie ; Hegde, Madhuri ; Graham, Brett H. ; Need, Anna C. ; Oviedo, Angelica ; Schaaf, Christian P. ; Boyle, Sean ; Butte, Atul J. ; Chen, Rong ; Clark, Michael J. ; Haraksingh, Rajini ; Cowan, Tina M. ; He, Ping ; Langlois, Sylvie ; Zoghbi, Huda Y. ; Snyder, Michael ; Gibbs, Richard A. ; Freeze, Hudson H. ; Goldstein, David B.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2014-10, Vol.16 (10), p.751-758
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This land is our land : the West Bank under Israeli occupation / Jan Metzger, Martin Orth, Christian Sterzing ; translated by Dan and Judy Bryant, Janet Goodwin and Stefan Schaaf.

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Nicotinic acetylcholine receptors in human genetic disease

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Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies

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Quantitative real-time imaging of glutathione

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A framework for an evidence-based gene list relevant to autism spectrum disorder

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Response to Briuglia et al

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Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

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Translational pediatrics: clinical perspective for Phelan–McDermid syndrome and autism research

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Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes

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mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome

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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

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An estimation of the prevalence of genomic disorders using chromosomal microarray data

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Genetic causes of optic nerve hypoplasia

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SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

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Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

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An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in rats

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Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns

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BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel

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In-depth mutational analyses of colorectal neuroendocrine carcinomas with adenoma or adenocarcinoma components

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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

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