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Christian Schaaf
Christian Schaaf
Verified email at med.uni-heidelberg.de - Homepage
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Year
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management
L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ...
JAMA pediatrics 171 (12), e173438-e173438, 2017
4192017
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties
K Han, JL Holder Jr, CP Schaaf, H Lu, H Chen, H Kang, J Tang, Z Wu, ...
Nature 503 (7474), 72-77, 2013
3732013
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome
MB Ramocki, SU Peters, YJ Tavyev, F Zhang, CMB Carvalho, CP Schaaf, ...
Annals of Neurology: Official Journal of the American Neurological …, 2009
3332009
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
CP Schaaf, ML Gonzalez-Garay, F Xia, L Potocki, KW Gripp, B Zhang, ...
Nature genetics 45 (11), 1405-1408, 2013
3192013
Detection of clinically relevant exonic copy‐number changes by array CGH
PM Boone, CA Bacino, CA Shaw, PA Eng, PM Hixson, AN Pursley, ...
Human mutation 31 (12), 1326-1342, 2010
2772010
Quantitative real-time imaging of glutathione
X Jiang, J Chen, A Bajić, C Zhang, X Song, SL Carroll, ZL Cai, M Tang, ...
Nature communications 8 (1), 16087, 2017
2342017
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway
GM Enns, V Shashi, M Bainbridge, MJ Gambello, FR Zahir, T Bast, ...
Genetics in Medicine 16 (10), 751-758, 2014
2302014
Reanalysis of clinical exome sequencing data
P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ...
New England Journal of Medicine 380 (25), 2478-2480, 2019
2292019
Lessons learned from additional research analyses of unsolved clinical exome cases
MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ...
Genome medicine 9, 1-15, 2017
2282017
Copy number and SNP arrays in clinical diagnostics
CP Schaaf, J Wiszniewska, AL Beaudet
Annual review of genomics and human genetics 12, 25-51, 2011
2252011
A small recurrent deletion within 15q13. 3 is associated with a range of neurodevelopmental phenotypes
M Shinawi, CP Schaaf, SS Bhatt, Z Xia, A Patel, SW Cheung, B Lanpher, ...
Nature genetics 41 (12), 1269-1271, 2009
2162009
Solving the autism puzzle a few pieces at a time
CP Schaaf, HY Zoghbi
Neuron 70 (5), 806-808, 2011
2052011
USP7 acts as a molecular rheostat to promote WASH-dependent endosomal protein recycling and is mutated in a human neurodevelopmental disorder
YH Hao, MD Fountain, KF Tacer, F Xia, W Bi, SHL Kang, A Patel, ...
Molecular cell 59 (6), 956-969, 2015
1942015
High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809: genotype–phenotype …
K Rojnueangnit, J Xie, A Gomes, A Sharp, T Callens, Y Chen, Y Liu, ...
Human mutation 36 (11), 1052-1063, 2015
1922015
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
CP Schaaf, A Sabo, Y Sakai, J Crosby, D Muzny, A Hawes, L Lewis, ...
Human molecular genetics 20 (17), 3366-3375, 2011
1872011
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits
P Dittwald, T Gambin, P Szafranski, J Li, S Amato, MY Divon, LXR Rojas, ...
Genome research 23 (9), 1395-1409, 2013
1542013
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
P Szafranski, CP Schaaf, RE Person, IB Gibson, Z Xia, S Mahadevan, ...
Human mutation 31 (7), 840-850, 2010
1422010
YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction
M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ...
The American Journal of Human Genetics 100 (6), 907-925, 2017
1382017
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
N Brunetti-Pierri, AR Paciorkowski, R Ciccone, ED Mina, MC Bonaglia, ...
European Journal of Human Genetics 19 (1), 102-107, 2011
1372011
Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
HC Lu, Q Tan, MWC Rousseaux, W Wang, JY Kim, R Richman, YW Wan, ...
Nature genetics 49 (4), 527-536, 2017
1342017
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