Christian P. Schaaf - Concepedia

Author

Christian P. Schaaf

Also Known As

Amber Stocco, C Schaaf, C. P. Schaaf, C. Schaaf, C.P. Schaaf, CP Schaaf, Christian P Schaaf, Christian P. Schaaf, Christian Patrick Schaaf, Christian Schaaf

334

Publications

9.9K

Citations

H-Index

153

Concepts

All Affiliations

Baylor College of Medicine Texas Children's Hospital Neurological Research Institute Heidelberg University Baylor Genetics

About

Christian P. Schaaf is an author at Baylor College of Medicine specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	34	51	4.2K
2	Public Health	6	6	559
3	Education	2	2	27
4	Engineering	2	2	60
5	Natural Sciences	2	2	94

Christian P. Schaaf

111

Publications

7.8K

Citations

H-Index

Page 1

	Year	Citations
Use of Exome Sequencing for Infants in Intensive Care Units Linyan Meng, Mohan Pammi, Anirudh Saronwala, JAMA Pediatrics	2017	422
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties Kihoon Han, J. Lloyd Holder, Christian P. Schaaf, Nature Molecular BiologyNeuropharmacologyPharmacotherapyShank3 OverexpressionDopamine	2013	356
Autism and other neuropsychiatric symptoms are prevalent in individuals with <i>MeCP2</i> duplication syndrome Melissa B. Ramocki, Sarika U. Peters, Y. Jane Tavyev, Annals of Neurology	2009	298
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism Christian P. Schaaf, Manuel L. Gonzalez‐Garay, Fan Xia, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification	2013	296
Quantitative real-time imaging of glutathione Xiqian Jiang, Jianwei Chen, Aleksandar Bajić, Nature Communications	2017	267
Detection of clinically relevant exonic copy-number changes by array CGH Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Human Mutation Array CghGeneticsDiagnosisGenomicsHigh Throughput Sequencing	2010	237
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge, Genetics in Medicine GeneticsEndocytic PathwayProtein DegradationInherited DisorderMolecular Genetics	2014	236
Lessons learned from additional research analyses of unsolved clinical exome cases Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel, Genome Medicine	2017	230
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder Yi-Heng Hao, Michael D. Fountain, Klementina Fon Tacer, Molecular Cell	2015	200
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nature Genetics Face DetectionFacial Recognition SystemMedicineBiometricsFacial Phenotype Descriptors	2022	195

Page 1