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CHRISTIAN PATRICK SCHAAF

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
AddressJan and Dan Duncan Neurological Research Institute
Room N1350.01
HOUSTON TX 77030
Email
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    Collapse awards and honors
    2014Fulbright & Jaworski LLP Faculty Excellence Award, Baylor College of Medicine
    2010Texas Children's Hospital Medical Staff Award for the Best and Most Complete Resident or Fellow , Texas Children's Hospital
    2011 - 2014Clinical Scientist Development Award, Doris Duke Charitable Foundation
    2012Chao Physician Scientist Award, Ting Tsung and Wei Fong Chao Foundation
    2013William K. Bowes Jr. Award in Medical Genetics, Harvard Medical School & Partners Center for Personalized Genetic Medicine

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Gillentine MA, Lupo PJ, Stankiewicz P, Schaaf CP. An estimation of the prevalence of genomic disorders using chromosomal microarray data. J Hum Genet. 2018 Apr 24. PMID: 29691480.
      View in: PubMed
    2. Bayat A, Bayat M, Lozoya R, Schaaf CP. Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum. Eur J Med Genet. 2018 Apr 13. PMID: 29660409.
      View in: PubMed
    3. McCarthy JM, McCann-Crosby BM, Rech ME, Yin J, Chen CA, Ali MA, Nguyen HN, Miller JL, Schaaf CP. Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. J Med Genet. 2018 May; 55(5):307-315. PMID: 29496979.
      View in: PubMed
    4. 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, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL, Zoghbi HY. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 Feb 22; 172(5):924-936.e11. PMID: 29474920.
      View in: PubMed
    5. Orwig DA, Boucher P, Paynter I, Saenz E, Li Z, Schaaf C. The potential to characterize ecological data with terrestrial laser scanning in Harvard Forest, MA. Interface Focus. 2018 Apr 06; 8(2):20170044. PMID: 29503723.
      View in: PubMed
    6. 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. Am J Hum Genet. 2018 Feb 01; 102(2):296-308. PMID: 29395075.
      View in: PubMed
    7. Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar; 63(3):349-356. PMID: 29279609.
      View in: PubMed
    8. 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, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 Dec 04; 171(12):e173438. PMID: 28973083.
      View in: PubMed
    9. Adams J, Schaaf CP. Diagnosis and genetics of alacrima. Clin Genet. 2017 Nov 09. PMID: 29120068.
      View in: PubMed
    10. Jiang X, Chen J, Bajic A, Zhang C, Song X, Carroll SL, Cai ZL, Tang M, Xue M, Cheng N, Schaaf CP, Li F, MacKenzie KR, Ferreon ACM, Xia F, Wang MC, Maletic-Savatic M, Wang J. Corrigendum: Quantitative real-time imaging of glutathione. Nat Commun. 2017 Oct 03; 8:16163. PMID: 28972204.
      View in: PubMed
    11. 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, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 Sep 21; 9(1):83. PMID: 28934986.
      View in: PubMed
    12. Gillentine MA, White JJ, Grochowski CM, Lupski JR, Schaaf CP, Calarge CA. CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. J Child Adolesc Psychopharmacol. 2017 Aug 17. PMID: 28817303.
      View in: PubMed
    13. 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. Am J Med Genet A. 2017 Aug 16. PMID: 28815871.
      View in: PubMed
    14. Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C. CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2017 Aug; 19(8):962. PMID: 28777376.
      View in: PubMed
    15. Pérez-Rivas LG, Oßwald A, Knösel T, Lucia K, Schaaf C, Hristov M, Fazel J, Kirchner T, Beuschlein F, Reincke M, Theodoropoulou M. Expression and mutational status of USP8 in tumors causing ectopic ACTH secretion syndrome. Endocr Relat Cancer. 2017 Jul 14. PMID: 28710116.
      View in: PubMed
    16. Jiang X, Chen J, Baji? A, Zhang C, Song X, Carroll SL, Cai ZL, Tang M, Xue M, Cheng N, Schaaf CP, Li F, MacKenzie KR, Ferreon ACM, Xia F, Wang MC, Maleti?-Savati? M, Wang J. Quantitative real-time imaging of glutathione. Nat Commun. 2017 Jul 13; 8:16087. PMID: 28703127.
      View in: PubMed
    17. Gillentine MA, Schaaf CP, Patel A. The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci. Am J Med Genet A. 2017 Jun 20. PMID: 28631888.
      View in: PubMed
    18. Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017 Jun 01; 100(6):907-925. PMID: 28575647.
      View in: PubMed
    19. Chen CA, Yin J, Lewis RA, Schaaf CP. Genetic causes of optic nerve hypoplasia. J Med Genet. 2017 May 13. PMID: 28501829.
      View in: PubMed
    20. 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, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 Mar 21; 9(1):26. PMID: 28327206.
      View in: PubMed
    21. 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, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Mar 13. PMID: 28288113.
      View in: PubMed
    22. 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, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Mar 13. PMID: 28288114.
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    23. 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 Behav. 2017 Mar 13. PMID: 28296079.
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    24. Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP. Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. J Autism Dev Disord. 2017 Feb 06. PMID: 28168676.
      View in: PubMed
    25. Yin J, Chen W, Yang H, Xue M, Schaaf CP. Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes. Sci Rep. 2017 Jan 03; 7:39941. PMID: 28045139.
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    26. Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP. The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. J Autism Dev Disord. 2016 Nov 16. PMID: 27853923.
      View in: PubMed
    27. Yin J, Schaaf CP. Autism genetics - an overview. Prenat Diagn. 2016 Oct 15. PMID: 27743394.
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    28. Aten E, Fountain MD, van Haeringen A, Schaaf CP, Santen GW. Imprinting: the Achilles heel of trio-based exome sequencing. Genet Med. 2016 Nov; 18(11):1163-1164. PMID: 27632685.
      View in: PubMed
    29. 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, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 Sep 1; 99(3):720-7. PMID: 27545676; PMCID: PMC5011061 [Available on 03/01/17].
    30. 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, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med. 2017 Jan; 19(1):45-52. PMID: 27195816.
      View in: PubMed
    31. Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2016 Nov; 18(11):1143-1150. PMID: 26986877.
      View in: PubMed
    32. 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, Troxell R, Clark G, Minard CG, Stankiewicz P, Beaudet A, Schaaf CP. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genet Med. 2016 Mar 10. PMID: 26963284.
      View in: PubMed
    33. Fountain MD, Schaaf CP. Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. Diseases. 2016 Jan 13; 4(1). PMID: 28933382.
      View in: PubMed
    34. 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. J Autism Dev Disord. 2016 Jan 11. PMID: 26754479.
      View in: PubMed
    35. 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, Caignec CL, Cogné B, Mercier S, Vincent M, Colin E, Bonneau D, Denommé AS, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Piton A, Dina C, Donnart A, Lindenbaum P, Charpentier E, Redon R, Iemura K, Ikeda M, Tanaka K, Bézieau S. De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability. Hum Mutat. 2016 Jan 11. PMID: 26751395.
      View in: PubMed
    36. 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, Pedersen RC, Saenz MS, Schaaf CP, Potts PR. USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder. Mol Cell. 2015 Sep 17; 59(6):956-69. PMID: 26365382.
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    37. 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, Neilson JR, Schaaf CP, Zoghbi HY. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 2015; 4. PMID: 26312503.
      View in: PubMed
    38. 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, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernández-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Misra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Hum Mutat. 2015 Nov; 36(11):1052-63. PMID: 26178382.
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    39. Fountain MD, Schaaf CP. MAGEL2 and Oxytocin-Implications in Prader-Willi Syndrome and Beyond. Biol Psychiatry. 2015 Jul 15; 78(2):78-80. PMID: 26092431.
      View in: PubMed
    40. Gillentine MA, Schaaf CP. The human clinical phenotypes of altered CHRNA7 copy number. Biochem Pharmacol. 2015 Oct 15; 97(4):352-62. PMID: 26095975.
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    41. 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". Am J Med Genet A. 2015 Oct; 167A(10):2496. PMID: 26355286.
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    42. 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. Am J Med Genet A. 2015 Sep; 167A(9):2162-7. PMID: 25943046.
      View in: PubMed
    43. 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 Med Genet. 2015; 16:12. PMID: 25927380; PMCID: PMC4422130.
    44. 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, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6; 95(5):579-83. PMID: 25439098; PMCID: PMC4225583.
    45. 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, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct; 16(10):751-8. PMID: 24651605; PMCID: PMC4243708.
    46. Rathore GS, Schaaf CP, Stocco AJ. Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration. Mov Disord. 2014 Apr; 29(4):574-5. PMID: 24610255.
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    47. Schaaf CP. Nicotinic acetylcholine receptors in human genetic disease. Genet Med. 2014 Sep; 16(9):649-56. PMID: 24556925.
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    48. 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. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 6; 94(2):303-9. PMID: 24462372; PMCID: PMC3928641.
    49. 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. Eur J Hum Genet. 2014 Sep; 22(9):1071-6. PMID: 24424125; PMCID: PMC4135413.
    50. 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, Zoghbi HY. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Nov 7; 503(7474):72-7. PMID: 24153177; PMCID: PMC3923348.
    51. 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. Nat Genet. 2013 Nov; 45(11):1405-8. PMID: 24076603; PMCID: PMC3819162.
    52. 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. J Neurooncol. 2013 Jul; 113(3):385-96. PMID: 23666203.
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    53. 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, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409. PMID: 23657883; PMCID: PMC3759717.
    54. 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. Eur J Hum Genet. 2013 Nov; 21(11):1304-7. PMID: 23486542; PMCID: PMC3798847.
    55. Heil KM, Schaaf CP. The genetics of Autism Spectrum Disorders--a guide for clinicians. Curr Psychiatry Rep. 2013 Jan; 15(1):334. PMID: 23250815.
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    56. 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. Hum Genet. 2012 Dec; 131(12):1895-910. PMID: 22890305; PMCID: PMC3493700.
    57. 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 Med Genet. 2012; 13:71. PMID: 22883432; PMCID: PMC3575261.
    58. 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. J Endocrinol. 2012 Sep; 214(3):389-98. PMID: 22739211.
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    59. 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, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet. 2012 Dec; 20(12):1240-7. PMID: 22617343; PMCID: PMC3499754.
    60. 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. Am J Med Genet A. 2011 Jul; 155A(7):1597-604. PMID: 21671375.
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    61. Schaaf CP, Zoghbi HY. Solving the autism puzzle a few pieces at a time. Neuron. 2011 Jun 9; 70(5):806-8. PMID: 21658575.
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    62. 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. Hum Mol Genet. 2011 Sep 1; 20(17):3366-75. PMID: 21624971; PMCID: PMC3153303.
    63. 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. Am J Med Genet A. 2011 Jun; 155A(6):1465-8. PMID: 21567909; PMCID: PMC3651890.
    64. 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. Mol Genet Metab. 2011 Aug; 103(4):383-7. PMID: 21636302.
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    65. Schaaf CP, Scott DA, Wiszniewska J, Beaudet AL. Identification of incestuous parental relationships by SNP-based DNA microarrays. Lancet. 2011 Feb 12; 377(9765):555-6. PMID: 21315943.
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    66. Schaaf CP, Wiszniewska J, Beaudet AL. Copy number and SNP arrays in clinical diagnostics. Annu Rev Genomics Hum Genet. 2011; 12:25-51. PMID: 21801020.
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    67. 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, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42. PMID: 20848651; PMCID: PMC3158569.
    68. 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. Eur J Hum Genet. 2011 Feb; 19(2):152-6. PMID: 20959866; PMCID: PMC3025795.
    69. 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, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011 Jan; 19(1):102-7. PMID: 20736978; PMCID: PMC3039509.
    70. 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, Shinawi M, Beaudet AL, Stankiewicz P. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50. PMID: 20506139; PMCID: PMC3162316.
    71. 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. Ann Neurol. 2009 Dec; 66(6):771-82. PMID: 20035514; PMCID: PMC2801873.
    72. 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. Nat Genet. 2009 Dec; 41(12):1269-71. PMID: 19898479; PMCID: PMC3158565.
    73. Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE. Hans Gunther and his disease. Photodermatol Photoimmunol Photomed. 2007 Dec; 23(6):261-3. PMID: 17986065.
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    74. Ma J, Amos CI, Warwick Daw E. Ascertainment correction for Markov chain Monte Carlo segregation and linkage analysis of a quantitative trait. Genet Epidemiol. 2007 Sep; 31(6):594-604. PMID: 29410510.
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    75. Schaaf CP, Benzing J, Schmitt T, Erz DH, Tewes M, Bartram CR, Janssen JW. Novel interaction partners of the TPR/MET tyrosine kinase. FASEB J. 2005 Feb; 19(2):267-9. PMID: 15546961.
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