Christian Schaaf - Publications

Affiliations: 
Baylor College of Medicine, Houston, TX 

69 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, ... ... Schaaf CP, et al. Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Human Molecular Genetics. PMID 31600777 DOI: 10.1093/hmg/ddz233  1
2019 Ballinger EC, Schaaf CP, Patel AJ, de Maio A, Tao H, Talmage DA, Zoghbi HY, Role LW. deletion from cholinergic neurons selectively impairs recognition memory and disrupts cholinergic modulation of the perirhinal cortex. Eneuro. PMID 31562178 DOI: 10.1523/ENEURO.0134-19.2019  1
2019 Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, ... ... Schaaf CP, et al. Reanalysis of Clinical Exome Sequencing Data. The New England Journal of Medicine. 380: 2478-2480. PMID 31216405 DOI: 10.1056/NEJMc1812033  0.64
2019 Goin-Kochel RP, Scaglia F, Schaaf CP, Berry LN, Dang D, Nowel KP, Laakman AL, Dowell LR, Minard CG, Loh A, Beaudet AL. Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study. Global Pediatric Health. 6: 2333794X19830696. PMID 30815516 DOI: 10.1177/2333794X19830696  0.64
2019 Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, ... ... Schaaf CP, et al. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30679821 DOI: 10.1038/s41436-019-0433-1  0.36
2018 McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP. Schaaf-Yang syndrome overview: Report of 78 individuals. American Journal of Medical Genetics. Part A. PMID 30302899 DOI: 10.1002/ajmg.a.40650  0.44
2018 Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, ... ... Schaaf CP, et al. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30158690 DOI: 10.1038/s41436-018-0085-6  0.4
2018 Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, ... ... Schaaf CP, et al. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. American Journal of Human Genetics. PMID 29961569 DOI: 10.1016/j.ajhg.2018.06.005  0.4
2018 Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, et al. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 172: 924-936.e11. PMID 29474920 DOI: 10.1016/j.cell.2018.02.006  1
2018 Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, Cummock SE, Tao H, Pang K, Liu Z, Pereira FA, Samaco RC, Zoghbi HY, Xue M, Schaaf CP. Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. American Journal of Human Genetics. 102: 296-308. PMID 29395075 DOI: 10.1016/j.ajhg.2018.01.005  1
2017 Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, ... ... Schaaf CP, et al. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. Jama Pediatrics. e173438. PMID 28973083 DOI: 10.1001/jamapediatrics.2017.3438  0.64
2017 Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, ... ... Schaaf CP, et al. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Medicine. 9: 83. PMID 28934986 DOI: 10.1186/s13073-017-0472-7  0.64
2017 Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. American Journal of Medical Genetics. Part A. PMID 28815871 DOI: 10.1002/ajmg.a.38388  0.4
2017 Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, ... Schaaf CP, et al. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Medicine. 9: 26. PMID 28327206 DOI: 10.1186/s13073-017-0412-6  0.64
2017 Fountain MD, Tao H, Chen CA, Yin J, Schaaf CP. Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty. Genes, Brain, and Behavior. PMID 28296079 DOI: 10.1111/gbb.12378  0.56
2017 Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, ... ... Schaaf CP, et al. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nature Genetics. PMID 28288114 DOI: 10.1038/ng.3808  1
2017 Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, ... ... Schaaf CP, et al. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nature Genetics. PMID 28288113 DOI: 10.1038/ng.3815  0.4
2017 Yin J, Chen W, Yang H, Xue M, Schaaf CP. Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes. Scientific Reports. 7: 39941. PMID 28045139 DOI: 10.1038/srep39941  0.56
2016 Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, ... ... Schaaf CP, et al. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. American Journal of Human Genetics. PMID 27545676 DOI: 10.1016/j.ajhg.2016.06.035  0.4
2016 Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, ... ... Schaaf CP, et al. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27195816 DOI: 10.1038/gim.2016.53  0.4
2016 Ziats MN, Goin-Kochel RP, Berry LN, Ali M, Ge J, Guffey D, Rosenfeld JA, Bader P, Gambello MJ, Wolf V, Penney LS, Miller R, Lebel RR, Kane J, Bachman K, ... ... Schaaf CP, et al. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26963284 DOI: 10.1038/gim.2016.9  0.44
2016 Crutcher E, Ali M, Harrison J, Sovago J, Gomez-Mancilla B, Schaaf CP. Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome. Journal of Autism and Developmental Disorders. PMID 26754479 DOI: 10.1007/s10803-015-2694-0  1
2016 Isidor B, Küry S, Rosenfeld JA, Besnard T, Schmitt S, Joss S, Davies SJ, Lebel RR, Henderson A, Schaaf CP, Streff HE, Yang Y, Jain V, Chida N, Latypova X, et al. De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability. Human Mutation. PMID 26751395 DOI: 10.1002/humu.22952  1
2016 Campagnolo ML, Sun Q, Liu Y, Schaaf C, Wang Z, Román MO. Estimating the effective spatial resolution of the operational BRDF, albedo, and nadir reflectance products from MODIS and VIIRS Remote Sensing of Environment. 175: 52-64. DOI: 10.1016/j.rse.2015.12.033  0.4
2015 Hao YH, Fountain MD, Fon Tacer K, Xia F, Bi W, Kang SH, Patel A, Rosenfeld JA, Le Caignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, ... ... Schaaf CP, et al. USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder. Molecular Cell. 59: 956-69. PMID 26365382 DOI: 10.1016/j.molcel.2015.07.033  1
2015 Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation". American Journal of Medical Genetics. Part A. 167: 2496. PMID 26355286 DOI: 10.1002/ajmg.a.37192  0.64
2015 Zoghbi HY, Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, ... ... Schaaf CP, et al. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 4. PMID 26312503 DOI: 10.7554/eLife.10782  1
2015 Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, ... ... Schaaf CP, et al. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Human Mutation. PMID 26178382 DOI: 10.1002/humu.22832  1
2015 Gillentine MA, Schaaf CP. The human clinical phenotypes of altered CHRNA7 copy number. Biochemical Pharmacology. 97: 352-62. PMID 26095975 DOI: 10.1016/j.bcp.2015.06.012  1
2015 Fountain MD, Schaaf CP. MAGEL2 and Oxytocin-Implications in Prader-Willi Syndrome and Beyond. Biological Psychiatry. 78: 78-80. PMID 26092431 DOI: 10.1016/j.biopsych.2015.05.006  1
2015 Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. American Journal of Medical Genetics. Part A. 167: 2162-7. PMID 25943046 DOI: 10.1002/ajmg.a.37144  1
2015 El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. Bmc Medical Genetics. 16: 12. PMID 25927380 DOI: 10.1186/s12881-015-0157-2  0.36
2015 El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: New cases and literature review Bmc Medical Genetics. 16. DOI: 10.1186/s12881-015-0157-2  1
2015 Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation" American Journal of Medical Genetics, Part A. DOI: 10.1002/ajmg.a.37192  1
2014 Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. American Journal of Human Genetics. 95: 579-83. PMID 25439098 DOI: 10.1016/j.ajhg.2014.09.014  1
2014 Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, ... ... Schaaf CP, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 751-8. PMID 24651605 DOI: 10.1038/gim.2014.22  1
2014 Rathore GS, Schaaf CP, Stocco AJ. Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. Movement Disorders : Official Journal of the Movement Disorder Society. 29: 574-5. PMID 24610255 DOI: 10.1002/mds.25868  1
2014 Schaaf CP. Nicotinic acetylcholine receptors in human genetic disease. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 649-56. PMID 24556925 DOI: 10.1038/gim.2014.9  1
2014 Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, ... ... Schaaf CP, et al. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics. 94: 303-9. PMID 24462372 DOI: 10.1016/j.ajhg.2014.01.002  1
2014 Soler-Alfonso C, Carvalho CM, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP. CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. European Journal of Human Genetics : Ejhg. 22: 1071-6. PMID 24424125 DOI: 10.1038/ejhg.2013.302  1
2013 Han K, Holder JL, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, et al. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 503: 72-7. PMID 24153177 DOI: 10.1038/nature12630  1
2013 Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nature Genetics. 45: 1405-8. PMID 24076603 DOI: 10.1038/ng.2776  1
2013 Curic S, Wu Y, Shan B, Schaaf C, Utpadel D, Lange M, Kuhlen D, Perone MJ, Arzt E, Stalla GK, Renner U. Curcumin acts anti-proliferative and pro-apoptotic in human meningiomas. Journal of Neuro-Oncology. 113: 385-96. PMID 23666203 DOI: 10.1007/s11060-013-1148-9  1
2013 Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, et al. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Research. 23: 1395-409. PMID 23657883 DOI: 10.1101/gr.152454.112  1
2013 Witsch J, Szafranski P, Chen CA, Immken L, Simpson Patel G, Hixson P, Cheung SW, Stankiewicz P, Schaaf CP. Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay. European Journal of Human Genetics : Ejhg. 21: 1304-7. PMID 23486542 DOI: 10.1038/ejhg.2013.42  1
2013 Heil KM, Schaaf CP. The genetics of Autism Spectrum Disorders--a guide for clinicians. Current Psychiatry Reports. 15: 334. PMID 23250815 DOI: 10.1007/s11920-012-0334-3  1
2013 Parthaune T, Hendig D, Schaaf C. Postgraduate training in Clinical Chemistry and Laboratory Medicine in Europe | Weiterbildung in der Klinischen Chemie und Laboratoriumsmedizin in Europa Laboratoriumsmedizin. 37: 275-285. DOI: 10.1515/labmed-2013-0039  1
2013 Yang Y, Marshak A, Palm SP, Wang Z, Schaaf C. Assessment of cloud screening with apparent surface reflectance in support of the ICESat-2 mission Ieee Transactions On Geoscience and Remote Sensing. 51: 1037-1045. DOI: 10.1109/TGRS.2012.2204066  0.4
2012 Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Human Genetics. 131: 1895-910. PMID 22890305 DOI: 10.1007/s00439-012-1216-9  1
2012 Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. Bmc Medical Genetics. 13: 71. PMID 22883432 DOI: 10.1186/1471-2350-13-71  1
2012 Shan B, Schaaf C, Schmidt A, Lucia K, Buchfelder M, Losa M, Kuhlen D, Kreutzer J, Perone MJ, Arzt E, Stalla GK, Renner U. Curcumin suppresses HIF1A synthesis and VEGFA release in pituitary adenomas. The Journal of Endocrinology. 214: 389-98. PMID 22739211 DOI: 10.1530/JOE-12-0207  1
2012 Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, et al. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. European Journal of Human Genetics : Ejhg. 20: 1240-7. PMID 22617343 DOI: 10.1038/ejhg.2012.95  1
2011 Schaaf CP, Wiszniewska J, Beaudet AL. Copy number and SNP arrays in clinical diagnostics. Annual Review of Genomics and Human Genetics. 12: 25-51. PMID 21801020 DOI: 10.1146/annurev-genom-092010-110715  1
2011 Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M. Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. American Journal of Medical Genetics. Part A. 155: 1597-604. PMID 21671375 DOI: 10.1002/ajmg.a.34040  1
2011 Schaaf CP, Zoghbi HY. Solving the autism puzzle a few pieces at a time. Neuron. 70: 806-8. PMID 21658575 DOI: 10.1016/j.neuron.2011.05.025  1
2011 Schaaf CP, Blazo M, Lewis RA, Tonini RE, Takei H, Wang J, Wong LJ, Scaglia F. Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. Molecular Genetics and Metabolism. 103: 383-7. PMID 21636302 DOI: 10.1016/j.ymgme.2011.04.018  1
2011 Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Human Molecular Genetics. 20: 3366-75. PMID 21624971 DOI: 10.1093/hmg/ddr243  1
2011 Breman AM, Probst FJ, Blazo MA, Schaaf CP, Roney EK, Craigen WJ, Bacino CA, Cheung SW. Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q. American Journal of Medical Genetics. Part A. 155: 1465-8. PMID 21567909 DOI: 10.1002/ajmg.a.33935  1
2011 Schaaf CP, Scott DA, Wiszniewska J, Beaudet AL. Identification of incestuous parental relationships by SNP-based DNA microarrays. Lancet. 377: 555-6. PMID 21315943 DOI: 10.1016/S0140-6736(11)60201-8  0.44
2011 Schaaf CP, Goin-Kochel RP, Nowell KP, Hunter JV, Aleck KA, Cox S, Patel A, Bacino CA, Shinawi M. Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. European Journal of Human Genetics : Ejhg. 19: 152-6. PMID 20959866 DOI: 10.1038/ejhg.2010.168  1
2011 Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, et al. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. European Journal of Human Genetics : Ejhg. 19: 102-7. PMID 20736978 DOI: 10.1038/ejhg.2010.142  1
2010 Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, ... ... Schaaf CP, et al. Detection of clinically relevant exonic copy-number changes by array CGH. Human Mutation. 31: 1326-42. PMID 20848651 DOI: 10.1002/humu.21360  1
2010 Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, et al. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Human Mutation. 31: 840-50. PMID 20506139 DOI: 10.1002/humu.21284  1
2010 Schaaf C, Shan B, Onofri C, Stalla GK, Arzt E, Schilling T, Perone MJ, Renner U. Curcumin inhibits the growth, induces apoptosis and modulates the function of pituitary folliculostellate cells. Neuroendocrinology. 91: 200-10. PMID 20160430 DOI: 10.1159/000287236  1
2009 Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Annals of Neurology. 66: 771-82. PMID 20035514 DOI: 10.1002/ana.21715  1
2009 Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nature Genetics. 41: 1269-71. PMID 19898479 DOI: 10.1038/ng.481  1
2009 Schaaf C, Shan B, Buchfelder M, Losa M, Kreutzer J, Rachinger W, Stalla GK, Schilling T, Arzt E, Perone MJ, Renner U. Curcumin acts as anti-tumorigenic and hormone-suppressive agent in murine and human pituitary tumour cells in vitro and in vivo. Endocrine-Related Cancer. 16: 1339-50. PMID 19726538 DOI: 10.1677/ERC-09-0129  1
2007 Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE. Hans Gunther and his disease. Photodermatology, Photoimmunology & Photomedicine. 23: 261-3. PMID 17986065 DOI: 10.1111/j.1600-0781.2007.00323.x  1
2005 Schaaf CP, Benzing J, Schmitt T, Erz DH, Tewes M, Bartram CR, Janssen JW. Novel interaction partners of the TPR/MET tyrosine kinase. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 19: 267-9. PMID 15546961 DOI: 10.1096/fj.04-1558fje  1
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