heiBIB: Schaaf, Christian P.

Schaaf, Christian P. Prof. Dr. med.Universität HeidelbergHeidelberg

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englisch (57)
deutsch (6)

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Publikationen in heiBIB

Burkart, Sebastian: Phenotypical and genotypical expansion of autosomal-dominant KDM1A-related neurodevelopmental disorder spectrum : a case report / Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Mark… , 18 June 2025. - 5 S.
In: American journal of medical genetics, ISSN 1552-4833. (2025), online version of record before inclusion in an issue, Artikel-Nummer e64144, Seite 1-5
DOI: 10.1002/ajmg.a.64144
Betzler, Isabel R.: Response to Downie et al. / Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garb… , 14 January 2025. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 48(2025), 1, Artikel-ID e12837, Seite 1-2
DOI: 10.1002/jimd.12837
Burkart, Sebastian: Unraveling the genomic architecture of supernumerary (iso-) dicentric chromosomes in Dup15q syndrome : Insight from a systematic literature-based study / Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel, 28 Jan. 2025. - 19 S.
In: Research Square, ISSN 2693-5015. (2025) vom: Jan., Seite 1-19
DOI: 10.21203/rs.3.rs-5833554/v1
Schubert, Tim Felix: MAGEL2 (patho-)physiology and Schaaf-Yang syndrome / Tim Schubert, Christian P. Schaaf, Jan 2025. - 14 S. : Illustrationen
In: Developmental medicine and child neurology, ISSN 1469-8749. 67(2025), 1 vom: Jan., Seite 35-48
DOI: 10.1111/dmcn.16018
Elbracht, Miriam: Humangenetische Diagnostik bei onkologischen Erkrankungen : Bedeutung von Tumorrisikosyndromen für Therapie und Prävention / Miriam Elbracht, Bernd Auber, Ingo Kurth, Albrecht Stenzinger, Christian P. Schaaf, Christopher Schr… , October 2024. - 10 S. : Illustrationen
In: Die Onkologie, ISSN 2731-7234. 30(2024), 10 vom: Okt., Seite 922-931
DOI: 10.1007/s00761-024-01562-7
Körfer, Daniel: Genetic variants in patients with multiple arterial aneurysms / Daniel Körfer, Caspar Grond-Ginsbach, Andreas S. Peters, Sebastian Burkart, Maja Hempel, Christian P… , 09 October 2024. - 8 S. : Tabellen
In: Langenbeck's archives of surgery, ISSN 1435-2451. 409(2024), Artikel-ID 304, Seite 1-8
DOI: 10.1007/s00423-024-03488-5
Herdt, Rudolf: Enhancing the analysis of murine neonatal ultrasonic vocalizations : development, evaluation, and application of different mathematical models / Rudolf Herdt, Louisa Kinzel, Johann Georg Maaß, Marvin Walther, Henning Fröhlich, Tim Schubert, Pete… , October 14 2024. - 19 S. : Illustrationen
In: The journal of the Acoustical Society of America, ISSN 1520-8524. 156(2024), 4 vom: Okt., Seite 2448-2466
DOI: 10.1121/10.0030473
Bloomfield, Madeleine: European Autism GEnomics Registry (EAGER) : protocol for a multicentre cohort study and registry / Madeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty, Sarah Douglas, Pierre Violland, Roderik P… , 4 June 2024. - 10 S. : Illustrationen
In: BMJ open, ISSN 2044-6055. 14(2024), 6, Artikel-ID e080746, Seite 1-10
DOI: 10.1136/bmjopen-2023-080746
Menzel, Michael: Benchmarking whole exome sequencing in the German network for personalized medicine / Michael Menzel, Mihaela Martis-Thiele, Hannah Goldschmid, Alexander Ott, Eva Romanovsky, Janna Siema… , November 2024. - 11 S.
In: European journal of cancer, ISSN 1879-0852. 211(2024), Artikel-ID 114306, Seite 1-11
DOI: 10.1016/j.ejca.2024.114306
Heimdörfer, David: Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes / David Heimdörfer, Alexander Vorleuter, Alexander Eschlböck, Angeliki Spathopoulou, Marta Suarez-Cube… , June 21, 2024. - 22 S. : Illustrationen
In: The American journal of human genetics, ISSN 1537-6605. 111(2024), 7 vom: Juli, Seite 1383-1404
DOI: 10.1016/j.ajhg.2024.05.023
Betzler, Isabel R.: Comparative analysis of gene and disease selection in genomic newborn screening studies / Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garb… , September 2024. - 26 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 5 vom: Sept., Seite 945-970
DOI: 10.1002/jimd.12750
Laan, Liselot van der: DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7 / Liselot van der Laan, Karim Karimi, Kathleen Rooney, Peter Lauffer, Haley McConkey, Pilar Caro, Rais… , 2024. - 15 S.
In: Genetics in medicine, ISSN 1530-0366. 26(2024), 3 vom: März, Artikel-ID 101050, Seite 1-15
DOI: 10.1016/j.gim.2023.101050
Wimmer, Moritz Claudius: Hao-Fountain syndrome : 32 novel patients reveal new insights into the clinical spectrum / Moritz Claudius Wimmer, Heiko Brennenstuhl, Steffen Hirsch, Laura Dötsch, Samy Unser, Pilar Caro, Ch… , 14 January 2024. - 11 S. : Illustrationen
In: Clinical genetics, ISSN 1399-0004. (2024) online ahead of print
DOI: 10.1111/cge.14480
Holzmann-Littig, Christopher Werner Karl: Locating medical information during an infodemic : information seeking behavior and strategies of health-care workers in Germany / Christopher Holzmann-Littig, David Stadler, Maria Popp, Peter Kranke, Falk Fichtner, Christoph Schma… , 2023. - 24 S. : Diagramme
In: Healthcare, ISSN 2227-9032. 11(2023), 11, Artikel-ID 1602, Seite 1-24
DOI: 10.3390/healthcare11111602
Projektgruppe EURAT: Stellungnahme zur Rückmeldung genetischer Zusatzbefunde Minderjähriger : Heidelberg, Oktober 2023 / Projektgruppe EURAT, Ethische und Rechtliche Aspekte der Translationalen Medizin ; mitwirkende Autor… . -
Heidelberg: Sektion für Translationale Medizinethik, [2023]. - 130 Seiten
Iwasaki, Mai: An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in rats / Mai Iwasaki, Arthur Lefevre, Ferdinand Althammer, Etienne Clauss Creusot, Olga Łąpieś, Hugues Petitj… , 24 February 2023. - 20 S. : Illustrationen
In: Nature Communications, ISSN 2041-1723. 14(2023), 1, Seite 1066$p1-20
DOI: 10.1038/s41467-023-36641-7
Brennenstuhl, Heiko: Genomisches Neugeborenenscreening - Forschungsansätze, Herausforderungen und Chancen / Heiko Brennenstuhl, Christian P. Schaaf, 13 October 2023. - 11 S. : Illustrationen
In: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, ISSN 1437-1588. 66(2023), 11, Seite 1232-1242
DOI: 10.1007/s00103-023-03777-2
Vockley, Jerry: Response to Beretich and Beretich : letter to the editor / Jerry Vockley, Nicola Brunetti-Pierri, Wendy K. Chung, Angus J. Clarke, Nina Gold, Robert C. Green, … , October 2023. - 2 S.
In: Genetics in medicine, ISSN 1530-0366. 25(2023), 10 vom: Okt., Artikel-ID 100903, Seite 1-2
DOI: 10.1016/j.gim.2023.100903
Forum Marsilius-Kolleg
Bd. 23. - Jungkunz, Martin: Position paper on the return of additional genetic findings in minors / Martin Jungkunz, Kai Cornelius, Christoph Schickhardt, Nicola Dikow, Eva Winkler, Benedikt Brors, St… . -
Heidelberg: Marsilius-Kolleg, 2023-10-30. - 1 Online-Ressource (120 Seiten)
Forum Marsilius-Kolleg
Bd. 23. - Projektgruppe EURAT: Stellungnahme zur Rückmeldung genetischer Zusatzbefunde Minderjähriger / Martin Jungkunz, Kai Cornelius, Christoph Schickhardt, Nicola Dikow, Eva Winkler, Benedikt Brors, St… . -
Heidelberg: Marsilius-Kolleg, 2023-10-30. - 1 Online-Ressource (130 Seiten)
DOI: 10.11588/fmk.2023.23.98739
Ahmad, Olfat: BRCA1/2 potential founder variants in the Jordanian population : an opportunity for a customized screening panel / Olfat Ahmad, Christian Sutter, Steffen Hirsch, Stefan M. Pfister and Christian P. Schaaf, 2023. - 9 S. : Illustrationen
In: Hereditary cancer in clinical practice, ISSN 1897-4287. 21(2023), Artikel-ID 11, Seite 1-9
DOI: 10.1186/s13053-023-00256-2
Menzel, Michael: Accurate tumor purity determination is critical for the analysis of homologous recombination deficiency (HRD) / Michael Menzel, Volker Endris, Constantin Schwab, Klaus Kluck, Olaf Neumann, Susanne Beck, Markus Ba… , September 2023. - 10 S. : Illustrationen
In: Translational oncology, ISSN 1936-5233. 35(2023) vom: Sept., Artikel-ID 101706, Seite 1-10
DOI: 10.1016/j.tranon.2023.101706
Reznik, Derek: Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome / Derek L. Reznik, Mingxiao V. Yang, Pedro Albelda de la Haza, Antrix Jain, Melanie Spanjaard, Susanne… , February 2023. - 18 S. : Illustrationen
In: Disease models & mechanisms, ISSN 1754-8411. 16(2023), 2 vom: Feb., Artikel-ID dmm049829, Seite 1-18
DOI: 10.1242/dmm.049829
Schröter, Julian: aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment / Julian Schroeter, Tal Dattner, Jennifer Huellein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffm… , 2023. - 7 S.
In: Computational and structural biotechnology journal, ISSN 2001-0370. 21(2023), Seite 1077-1083
DOI: 10.1016/j.csbj.2023.01.027
Kampmeier, Antje: PHIP-associated Chung-Jansen syndrome : report of 23 new individuals / Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzu… , 16 January 2023. - 13 S.
In: Frontiers in cell and developmental biology, ISSN 2296-634X. 10(2023) vom: Jan., Artikel-ID 1020609, Seite 1-13
DOI: 10.3389/fcell.2022.1020609
Desai, Nilesh: Common neuroimaging findings in Bosch-Boonstra-Schaaf optic atrophy syndrome / N.K. Desai, S.F. Kralik, J.C. Edmond, V. Shah, T.a.G.M. Huisman, M. Rech, and C.P. Schaaf, February 1, 2023.. - 6 S. : Illustrationen
In: American journal of neuroradiology, ISSN 1936-959X. 44(2023), 2 vom: Feb., Seite 212-217
DOI: 10.3174/ajnr.A7758
Althammer, Ferdinand: Analysis of the hypothalamic oxytocin system and oxytocin receptor-expressing astrocytes in a mouse model of Prader-Willi syndrome / Ferdinand Althammer, Moritz Claudius Wimmer, Quirin Krabichler, Stephanie Küppers, Jonas Schimmer, H… , December 2022. - 13 S. : Illustrationen
In: Journal of neuroendocrinology, ISSN 1365-2826. 34(2022), 12 vom: Dez., Artikel-ID e13217, Seite 1-13
DOI: 10.1111/jne.13217
Horak, Peter: Assigning evidence to actionability : an introduction to variant interpretation in precision cancer medicine / Peter Horak, Jonas Leichsenring, Hannah Goldschmid, Simon Kreutzfeldt, Daniel Kazdal, Veronica Telea… , June 2022. - 11 S.
In: Genes, chromosomes & cancer, ISSN 1098-2264. 61(2022), 6, 6, Seite 303-313
DOI: 10.1002/gcc.22987
Althammer, Ferdinand: Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes : evidence, disappointments, and future research strategies / Ferdinand Althammer, Francoise Muscatelli, Valery Grinevich, Christian P. Schaaf, 08 August 2022. - 11 S.
In: Translational Psychiatry, ISSN 2158-3188. 12(2022), Artikel-ID 318, Seite 1-11
DOI: 10.1038/s41398-022-02054-1
Pixberg, Constantin Frederic: Cognition : a prospective precision oncology trial for patients with early breast cancer at high risk following neoadjuvant chemotherapy / C. Pixberg, M. Zapatka, M. Hlevnjak, S. Benedetto, J.P. Suppelna, J. Heil, K. Smetanay, L. Michel, C… , 21 November 2022. - 12 S.
In: ESMO open, ISSN 2059-7029. 7(2022), 6, Artikel-ID 100637, Seite 1-12
DOI: 10.1016/j.esmoop.2022.100637
Yuan, Bo: Sequencing individual genomes with recurrent genomic disorder deletions : an approach to characterize genes for autosomal recessive rare disease traits / Bo Yuan, Katharina V. Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Fra… , 30 September 2022. - 24 S.
In: Genome medicine, ISSN 1756-994X. 14(2022), Artikel-ID 113, Seite 1-24
DOI: 10.1186/s13073-022-01113-y
Riggs, Erin Rooney: Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels / Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwi… , 26 May 2022. - 10 S.
In: Genetics in medicine, ISSN 1530-0366. 24(2022), 9, Seite 1899-1908
DOI: 10.1016/j.gim.2022.05.001
Dias, Kerith-Rae: De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations / Kerith-Rae Dias, Colleen M. Carlston, Laura E.R. Blok, Lachlan De Hayr, Urwah Nawaz, Carey-Anne Evan… , 1 August 2022. - 15 S.
In: Genetics in medicine, ISSN 1530-0366. 24(2022), 9, Seite 1952-1966
DOI: 10.1016/j.gim.2022.06.001
Baudon, Angel: Emerging role of astrocytes in oxytocin-mediated control of neural circuits and brain functions / Angel Baudon, Etienne Clauss Creusot, Ferdinand Althammer, Christian P. Schaaf, Alexandre Charlet, October 2022. - 10 S.
In: Progress in neurobiology, ISSN 1873-5118. 217(2022), Artikel-ID 102328, Seite 1-10
DOI: 10.1016/j.pneurobio.2022.102328
Erhart, Philipp: Multiple arterial dissections and connective tissue abnormalities / Philipp Erhart, Daniel Körfer, Susanne Dihlmann, Jia-Lu Qiao, Ingrid Hausser, Peter Ringleb, Jörg Mä… , 7 June 2022. - 9 S.
In: Journal of Clinical Medicine, ISSN 2077-0383. 11(2022), 12, special issue, Artikel-ID 3264, Seite 1-9
DOI: 10.3390/jcm11123264
Rempel, Eugen: Pan-cancer analysis of genomic scar patterns caused by homologous repair deficiency (HRD) / E. Rempel, K. Kluck, S. Beck, I. Ourailidis, D. Kazdal, O. Neumann, A.L. Volckmar, M. Kirchner, H. G… , 09 June 2022. - 13 S.
In: npj precision oncology, ISSN 2397-768X. 6(2022), Artikel-ID 36, Seite 1-13
DOI: 10.1038/s41698-022-00276-6
Dikow, Nicola: From newborn screening to genomic medicine : challenges and suggestions on how to incorporate genomic newborn screening in public health programs / Nicola Dikow, Beate Ditzen, Stefan Kölker, Georg F. Hoffmann, and Christian P. Schaaf, February 17, 2022. - 8 S.
In: Medizinische Genetik, ISSN 1863-5490. 34(2022), 1, Seite 13-20
DOI: 10.1515/medgen-2022-2113
Bertacchi, Michele: Pathophysiological heterogeneity of the BBSOA neurodevelopmental syndrome / Michele Bertacchi, Chiara Tocco, Christian P. Schaaf and Michèle Studer, 8 April 2022. - 47 S.
In: Cells, ISSN 2073-4409. 11(2022), 8, Special issue, Artikel-ID 1260, Seite 1-47
DOI: 10.3390/cells11081260
Erhart, Philipp: Genetic variation in LRP1 associates with Stanford Type B aortic dissection risk and clinical outcome / Philipp Erhart, Daniel Körfer, Caspar Grond-Ginsbach, Jia-Lu Qiao, Moritz S. Bischoff, Maja Hempel, … , 5 January 2022. - 8 S.
In: Journal of cardiovascular development and disease, ISSN 2308-3425. 9(2022), 1, Artikel-ID 14, Seite 1-8
DOI: 10.3390/jcdd9010014
Marbach, Felix: Response to Briuglia et al. / Felix Marbach and Christian P. Schaaf, February 2021. - 2 S.
In: Genetics in medicine, ISSN 1530-0366. 23(2021), 2 vom: Feb., Seite 423-424
DOI: 10.1038/s41436-020-00977-y
Schraw, Jeremy: A comprehensive assessment of co-occurring birth defects among infants with non-syndromic anophthalmia or microphthalmia / Jeremy M. Schraw, Renata H. Benjamin, Daryl A. Scott, Brian P. Brooks, Robert B. Hufnagel, Scott D. … , 2021. - 8 S. : Illustrationen
In: Ophthalmic epidemiology, ISSN 1744-5086. 28(2021), 5, Seite 428-435
DOI: 10.1080/09286586.2020.1862244
Semino, Francesca: Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder / Francesca Semino, Julian Schröter, Marjolein H. Willemsen, Thomas Bast, Saskia Biskup, Stefanie Beck… , 2021. - 7 S. : Illustrationen
In: Human mutation, ISSN 1098-1004. 42(2021), 9, Seite 1094-1100
DOI: 10.1002/humu.24245
Hebach, Nils R.: A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome / Nils R. Hebach, Pilar Caro, Bailey A. Martin-Giacalone, Philip J. Lupo, Felix Marbach, Daniela Chouk… , 2021. - 10 S.
In: Clinical genetics, ISSN 1399-0004. 100(2021), 3, Seite 298-307
DOI: 10.1111/cge.14000
Schaaf, Christian P.: Genetic counseling and the role of genetic counselors in the United States / Christian P. Schaaf, 14. Mai 2021. - 6 S.
In: Medizinische Genetik, ISSN 1863-5490. 33(2021), 1, Seite 29-34
DOI: 10.1515/medgen-2021-2054
Hirsch, Steffen: Germline testing for homologous recombination repair genes : opportunities and challenges / Steffen Hirsch, Laura Gieldon, Christian Sutter, Nicola Dikow, Christian P. Schaaf, 2021. - 12 S.
In: Genes, chromosomes & cancer, ISSN 1098-2264. 60(2021), 5, Seite 332-343
DOI: 10.1002/gcc.22900
Ludorf, Katherine L.: Corrigendum to “Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1-64.e8] / Katherine L. Ludorf, Renata H. Benjamin, Maria Luisa Navarro Sanchez, Scott D. McLean, Hope Northrup… , 26 July 2021. - 1 S.
In: Journal of pediatric urology, ISSN 1873-4898. (2021), Seite 1
DOI: 10.1016/j.jpurol.2021.07.008
Ludorf, Katherine L.: Patterns of co-occurring birth defects among infants with hypospadias / Katherine L. Ludorf, Renata H. Benjamin, Maria Luisa Navarro Sanchez, Scott D. McLean, Hope Northrup… , 2021. - 8 S.
In: Journal of pediatric urology, ISSN 1873-4898. 17(2021), 1 vom: Feb., Seite 64.e1-64.e8
DOI: 10.1016/j.jpurol.2020.11.015
Marbach, Felix: Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain / Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra Londo… , 08 April 2021. - 9 S.
In: Genetics in medicine, ISSN 1530-0366. 23(2021), 8, Seite 1465-1473
DOI: 10.1038/s41436-021-01152-7
Stern, Tehila: Brain Network Analysis of EEG recordings can be used to assess cognitive function in teenagers with 15q13.3 microdeletion syndrome / Tehila Stern, Emeline H. Crutcher, John M. McCarthy, May A. Ali, Gil Issachar, Amir B. Geva, Ziv Per… , 28 January 2021. - 11 S.
In: Frontiers in neuroscience, ISSN 1662-453X. 15(2021), Artikel-ID 622329, Seite 1-11
DOI: 10.3389/fnins.2021.622329
Mederer, Tanja: A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease / Tanja Mederer, Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Thomas Thumberger,… , November 5, 2020
In: PLoS Genetics, ISSN 1553-7404. 16(2020), 11, Seite e1009106
DOI: 10.1371/journal.pgen.1009106
Yin, Jiani: Next generation sequencing of 134 children with autism spectrum disorder and regression / Jiani Yin, Chun-An Chun, Nikolay N. Zavadenko, Natalia L. Pechatnikova, Oxana Yu Naumova, Harsha V. … , 25 July 2020. - 14 S.
In: Genes, ISSN 2073-4425. 11(2020,8) Artikel-Nummer 853, 14 Seiten
DOI: 10.3390/genes11080853
Marbach, Felix: The adult phenotype of Schaaf-Yang syndrome / Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constanc… , 19 October 2020. - 11 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020) Artikel-Nummer 294, 11 Seiten
DOI: 10.1186/s13023-020-01557-8
Adang, Laura A.: Phenotypic and imaging spectrum associated wth WDR45 / Laura A. Adang, MD, PhD, Amy Pizzino, GC, Alka Malhotra, PhD, Holly Dubbs, GC,Catherine Williams, BS… , 11 March 2020. - 7 S.
In: Pediatric neurology, ISSN 1873-5150. 109(2020), Seite 56-62
DOI: 10.1016/j.pediatrneurol.2020.03.005
Rech, Megan E.: Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations / Megan E. Rech, John M. McCarthy, Chun-An Chen, Jane C. Edmond, Veeral S. Shah, Daniëlle G.M. Bosch, … , 10 April 2020. - 12 S.
In: American journal of medical genetics, ISSN 1552-4833. 182(2020), 6, Seite 1426-1437
DOI: 10.1002/ajmg.a.61580
Chen, Chun-An: Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder / Chun-An Chen, Rituraj Pal, Jiani Yin, Huifang Tao, Abdallah Amawi, Aniko Sabo, Matthew N. Bainbridge… , 15 January 2020. - 12 S.
In: Human molecular genetics, ISSN 1460-2083. 29(2020), 3, Seite 459-470
DOI: 10.1093/hmg/ddz305
Liu, Pengfei: Correspondence: reanalysis of clinical exome sequencing data / Pengfei Liu, Ph.D., James R. Lupski, M.D., Ph.D., Yaping Yang, Ph.D., and others, August 15, 2019. - 3 S.
In: The New England journal of medicine, ISSN 1533-4406. 380(2019), 25, Seite 2478-2480
DOI: 10.1056/NEJMc1812033
Chen, Chun-An: Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity / Chun-An Chen, Wei Wang, Steen E. Pedersen, Ayush Raman, Michelle L. Seymour, Fernanda R. Ruiz, Anpin… , 2020. - 11 S.
In: Human molecular genetics, ISSN 1460-2083. 29(2020), 5, Seite 705-715
DOI: 10.1093/hmg/ddz233
Schaaf, Christian P.: Nachruf Prof. Dr. rer. nat. Werner Buselmaier / Christian Schaaf, Gudrun Rappold (Institut für Humangenetik Universität Heidelberg), [December 2019]. - 2 S.
In: Medizinische Genetik, ISSN 1863-5490. 31(2019), 4, Seite 422-423
Ballinger, Elizabeth C.: Mecp2 deletion from cholinergic neurons selectively impairs recognition memory and disrupts cholinergic modulation of the perirhinal cortex / Elizabeth C. Ballinger, Christian P. Schaaf, Akash J. Patel, Antonia de Maio, Huifang Tao, David A. … , September 27, 2019. - 13 S.
In: eNeuro, ISSN 2373-2822. 6(2019,6) Artikel-Nummer 0134-19.2019, 13 Seiten
DOI: 10.1523/ENEURO.0134-19.2019
Crutcher, Emeline: mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome / Emeline Crutcher, Rituraj Pal, Fatemeh Naini, Ping Zhang, Magdalena Laugsch, Jean Kim, Aleksandar Ba… , 04 November 2019. - 13 S.
In: Scientific reports, ISSN 2045-2322. 9(2019) Artikel-Nummer 15935, 13 Seiten
DOI: 10.1038/s41598-019-52287-2
Heil, Karsten M.: The genetics of Autism Spectrum Disorders : a guide for clinicians / Karsten M. Heil, Christian P. Schaaf, 2013. - 8 S.
In: Current psychiatry reports, ISSN 1535-1645. 15(2013,1) Artikel-Nummer 334, 8 Seiten
DOI: 10.1007/s11920-012-0334-3
Schaaf, Christian P.: Curcumin inhibits the growth, induces apoptosis and modulates the function of pituitary folliculostellate cells / Christian Schaaf, Bing Shan, Chiara Onofri, Günter K. Stalla, Eduardo Arzt, Tobias Schilling, Marcel… , February 17 2010. - 11 S.
In: Neuroendocrinology, ISSN 1423-0194. 91(2010), 2, Seite 200-210
DOI: 10.1159/000287236
Schaaf, Christian P.: Identifikation neuer Interaktionspartner des MET-Rezeptors / vorgelegt von Christian Patrick Schaaf, 2004 [ersch.] 2005. - 137 Bl. : Ill., graph. Darst.

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