Cornelius Boerkoel - Publications

Affiliations: 
University of British Columbia, Vancouver, Vancouver, BC, Canada 

122 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
2017 Myers A, du Souich C, Yang CL, Borovik L, Mwenifumbo J, Rupps R, Study C, Lehman A, Boerkoel CF. FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability? American Journal of Medical Genetics. Part A. PMID 28884888 DOI: 10.1002/ajmg.a.38462  0.4
2016 Duffy S, Fam HK, Wang YK, Styles EB, Kim JH, Ang JS, Singh T, Larionov V, Shah SP, Andrews B, Boerkoel CF, Hieter P. Overexpression screens identify conserved dosage chromosome instability genes in yeast and human cancer. Proceedings of the National Academy of Sciences of the United States of America. PMID 27551064 DOI: 10.1073/Pnas.1611839113  0.4
2016 Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF. Phenotypic evolution of UNC80 loss of function. American Journal of Medical Genetics. Part A. PMID 27513830 DOI: 10.1002/ajmg.a.37929  0.4
2016 Szafranski P, Coban-Akdemir ZH, Rupps R, Grazioli S, Wensley D, Jhangiani SN, Popek E, Lee AF, Lupski JR, Boerkoel CF, Stankiewicz P. Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. American Journal of Medical Genetics. Part A. PMID 27374786 DOI: 10.1002/ajmg.a.37822  0.4
2016 Maduro V, Pusey BN, Cherukuri PF, Atkins P, du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, Links AE, Lehman A, Malicdan MC, Mason CE, Morimoto M, ... ... Boerkoel CF, et al. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. Orphanet Journal of Rare Diseases. 11: 62. PMID 27179618 DOI: 10.1186/s13023-016-0439-6  0.4
2016 Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF. Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. American Journal of Human Genetics. PMID 26805780 DOI: 10.1016/J.Ajhg.2015.12.007  0.4
2015 Davids M, Kane MS, He M, Wolfe LA, Li X, Raihan MA, Chao KR, Bone WP, Boerkoel CF, Gahl WA, Toro C. Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Journal of Medical Genetics. PMID 26668131 DOI: 10.1136/Jmedgenet-2015-103338  0.4
2015 Cherukuri PF, Maduro V, Fuentes-Fajardo KV, Lam K, Adams DR, Tifft CJ, Mullikin JC, Gahl WA, Boerkoel CF. Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data. Bmc Genomics. 16: 998. PMID 26602380 DOI: 10.1186/s12864-015-2107-y  0.4
2015 Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, ... ... Boerkoel CF, et al. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26562225 DOI: 10.1038/Gim.2015.137  0.4
2015 Sanyal M, Morimoto M, Baradaran-Heravi A, Choi K, Kambham N, Jensen K, Dutt S, Dionis-Petersen KY, Liu LX, Felix K, Mayfield C, Dekel B, Bokenkamp A, Fryssira H, Guillen-Navarro E, ... ... Boerkoel CF, et al. Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). Clinical Immunology (Orlando, Fla.). 161: 355-365. PMID 26499378 DOI: 10.1016/j.clim.2015.10.005  0.4
2015 Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, et al. A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Phosphomannose Isomerase Deficiencies. Clinical Chemistry. PMID 26430078 DOI: 10.1373/clinchem.2015.243279  0.4
2015 Morimoto M, Wang KJ, Yu Z, Gormley AK, Parham D, Bogdanovic R, Lücke T, Mayfield C, Weksberg R, Hendson G, Boerkoel CF. Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia. Pediatric Research. PMID 26309238 DOI: 10.1038/pr.2015.156  0.4
2015 Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, et al. PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Human Mutation. PMID 26251998 DOI: 10.1002/Humu.22851  0.4
2015 Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, ... ... Boerkoel CF, et al. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. American Journal of Human Genetics. PMID 26119818 DOI: 10.1016/j.ajhg.2015.05.017  0.4
2015 Welinder LG, Robitaille JM, Rupps R, Boerkoel CF, Lyons CJ. Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-pseudoglioma Syndrome. Ophthalmic Genetics. 1-5. PMID 25945592 DOI: 10.3109/13816810.2015.1016240  0.4
2015 Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MC, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, ... ... Boerkoel CF, et al. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Molecular Genetics and Metabolism. 115: 128-40. PMID 25943031 DOI: 10.1016/J.Ymgme.2015.04.007  0.4
2015 Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, ... Boerkoel CF, et al. Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. Orphanet Journal of Rare Diseases. 10: 27. PMID 25888122 DOI: 10.1186/s13023-015-0235-8  0.4
2015 Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, et al. MED23-associated intellectual disability in a non-consanguineous family. American Journal of Medical Genetics. Part A. 167: 1374-80. PMID 25845469 DOI: 10.1002/Ajmg.A.37047  0.4
2015 Markello T, Chen D, Kwan JY, Horkayne-Szakaly I, Morrison A, Simakova O, Maric I, Lozier J, Cullinane AR, Kilo T, Meister L, Pakzad K, Bone W, Chainani S, Lee E, ... ... Boerkoel C, et al. York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. Molecular Genetics and Metabolism. 114: 474-82. PMID 25577287 DOI: 10.1016/j.ymgme.2014.12.307  0.4
2015 Hemati P, du Souich C, Boerkoel CF. 4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency. American Journal of Medical Genetics. Part A. 167: 231-7. PMID 25355368 DOI: 10.1002/ajmg.a.36821  0.4
2015 Sarin S, Javidan A, Boivin F, Alexopoulou I, Lukic D, Svajger B, Chu S, Baradaran-Heravi A, Boerkoel CF, Rosenblum ND, Bridgewater D. Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis. The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society. 63: 32-44. PMID 25319549 DOI: 10.1369/0022155414558335  0.4
2014 Shehata L, Simeonov DR, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman GE, Tifft CJ, He M, Jaspers NG, Gahl WA. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. American Journal of Medical Genetics. Part A. 164: 2892-900. PMID 25251875 DOI: 10.1002/ajmg.a.36709  0.4
2014 Dean RA, Fam HK, An J, Choi K, Shimizu Y, Jones SJ, Boerkoel CF, Interthal H, Pfeifer TA. Identification of a putative Tdp1 inhibitor (CD00509) by in vitro and cell-based assays. Journal of Biomolecular Screening. 19: 1372-82. PMID 25117203 DOI: 10.1177/1087057114546551  0.4
2014 Dias C, Rupps R, Millar B, Choi K, Marra M, Demos M, Kratz LE, Boerkoel CF. Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders. Orphanet Journal of Rare Diseases. 9: 94. PMID 24961299 DOI: 10.1186/1750-1172-9-94  0.4
2014 Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, ... ... Boerkoel CF, et al. Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. Molecular Genetics and Metabolism. 113: 161-70. PMID 24863970 DOI: 10.1016/J.Ymgme.2014.04.001  0.4
2014 Sadat MA, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, Memoli MJ, He M, Vega H, Kim LJ, Huang Y, Hussein N, Nievas E, Mitchell R, Garofalo M, ... ... Boerkoel CF, et al. Glycosylation, hypogammaglobulinemia, and resistance to viral infections. The New England Journal of Medicine. 370: 1615-25. PMID 24716661 DOI: 10.1056/Nejmoa1302846  0.4
2014 Tzeng M, du Souich C, Cheung HW, Boerkoel CF. Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation. American Journal of Medical Genetics. Part A. 164: 1808-14. PMID 24700502 DOI: 10.1002/ajmg.a.36533  0.4
2014 Brown LA, Rupps R, Peñaherrera MS, Robinson WP, Patel MS, Eydoux P, Boerkoel CF. A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature. American Journal of Medical Genetics. Part A. 164: 1587-94. PMID 24668696 DOI: 10.1002/ajmg.a.36490  0.4
2014 Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF. Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. Nature Communications. 5: 3251. PMID 24504326 DOI: 10.1038/Ncomms4251  0.4
2013 Morimoto M, Boerkoel CF. The role of nuclear bodies in gene expression and disease. Biology. 2: 976-1033. PMID 24040563 DOI: 10.3390/biology2030976  0.4
2013 Baradaran-Heravi A, Lange J, Asakura Y, Cochat P, Massella L, Boerkoel CF. Bone marrow transplantation in Schimke immuno-osseous dysplasia. American Journal of Medical Genetics. Part A. 161: 2609-13. PMID 23950031 DOI: 10.1002/ajmg.a.36111  0.4
2013 Fam HK, Walton C, Mitra SA, Chowdhury M, Osborne N, Choi K, Sun G, Wong PC, O'Sullivan MJ, Turashvili G, Aparicio S, Triche TJ, Bond M, Pallen CJ, Boerkoel CF. TDP1 and PARP1 deficiency are cytotoxic to rhabdomyosarcoma cells. Molecular Cancer Research : McR. 11: 1179-92. PMID 23913164 DOI: 10.1158/1541-7786.Mcr-12-0575  0.4
2013 Duan X, Markello T, Adams D, Toro C, Tifft C, Gahl WA, Boerkoel CF. Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China. Frontiers of Medicine. 7: 389-94. PMID 23856975 DOI: 10.1007/s11684-013-0281-3  0.4
2013 Fam HK, Chowdhury MK, Walton C, Choi K, Boerkoel CF, Hendson G. Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissues. Journal of Molecular Histology. 44: 481-94. PMID 23536040 DOI: 10.1007/s10735-013-9496-5  0.4
2013 Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, ... ... Boerkoel CF, et al. Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Neuromuscular Disorders : Nmd. 23: 483-8. PMID 23453856 DOI: 10.1016/j.nmd.2013.01.013  0.4
2013 Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES, Kollmann TR, Demos M, Friedman JM, Speert DP, ... ... Boerkoel CF, et al. Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. European Journal of Human Genetics : Ejhg. 21: 1232-9. PMID 23443029 DOI: 10.1038/Ejhg.2013.20  0.4
2013 Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF. Kearns-Sayre syndrome presenting as isolated growth failure. Bmj Case Reports. 2013. PMID 23420719 DOI: 10.1136/bcr-2012-007272  0.4
2013 Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA. 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. Clinical Journal of the American Society of Nephrology : Cjasn. 8: 649-57. PMID 23293122 DOI: 10.2215/CJN.05360512  0.4
2012 Morimoto M, Yu Z, Stenzel P, Clewing JM, Najafian B, Mayfield C, Hendson G, Weinkauf JG, Gormley AK, Parham DM, Ponniah U, André JL, Asakura Y, Basiratnia M, Bogdanović R, ... ... Boerkoel CF, et al. Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet Journal of Rare Diseases. 7: 70. PMID 22998683 DOI: 10.1186/1750-1172-7-70  0.4
2012 Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, ... ... Boerkoel C, et al. Rare copy number variants contribute to congenital left-sided heart disease. Plos Genetics. 8: e1002903. PMID 22969434 DOI: 10.1371/Journal.Pgen.1002903  0.4
2012 Baradaran-Heravi A, Raams A, Lubieniecka J, Cho KS, DeHaai KA, Basiratnia M, Mari PO, Xue Y, Rauth M, Olney AH, Shago M, Choi K, Weksberg RA, Nowaczyk MJ, Wang W, ... ... Boerkoel CF, et al. SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo. American Journal of Medical Genetics. Part A. 158: 2204-13. PMID 22888040 DOI: 10.1002/ajmg.a.35532  0.4
2012 Morimoto M, Kérourédan O, Gendronneau M, Shuen C, Baradaran-Heravi A, Asakura Y, Basiratnia M, Bogdanovic R, Bonneau D, Buck A, Charrow J, Cochat P, Dehaai KA, Fenkçi MS, Frange P, ... ... Boerkoel CF, et al. Dental abnormalities in Schimke immuno-osseous dysplasia. Journal of Dental Research. 91: 29S-37S. PMID 22699664 DOI: 10.1177/0022034512450299  0.4
2012 Pierson TM, Adams DA, Markello T, Golas G, Yang S, Sincan M, Simeonov DR, Fuentes Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Teer JK, Mullikin JC, Boerkoel CF, et al. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis. Neurology. 79: 123-6. PMID 22675082 DOI: 10.1212/Wnl.0B013E31825F047A  0.4
2012 Niederhoffer KY, Peñaherrera M, Pugash D, Rupps R, Arbour L, Tessier F, Choufani S, Zhao C, Manokhina I, Shuman C, Robinson WP, Weksberg R, Boerkoel CF. Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation. American Journal of Medical Genetics. Part A. 158: 1662-9. PMID 22615066 DOI: 10.1002/ajmg.a.35377  0.4
2012 Baradaran-Heravi A, Cho KS, Tolhuis B, Sanyal M, Morozova O, Morimoto M, Elizondo LI, Bridgewater D, Lubieniecka J, Beirnes K, Myung C, Leung D, Fam HK, Choi K, Huang Y, ... ... Boerkoel CF, et al. Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Human Molecular Genetics. 21: 2572-87. PMID 22378147 DOI: 10.1093/Hmg/Dds083  0.4
2012 Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Human Mutation. 33: 614-26. PMID 22311686 DOI: 10.1002/humu.22032  0.4
2012 Fuentes Fajardo KV, Adams D, Mason CE, Sincan M, Tifft C, Toro C, Boerkoel CF, Gahl W, Markello T. Detecting false-positive signals in exome sequencing. Human Mutation. 33: 609-13. PMID 22294350 DOI: 10.1002/humu.22033  0.4
2012 Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC. Analysis of DNA sequence variants detected by high-throughput sequencing. Human Mutation. 33: 599-608. PMID 22290882 DOI: 10.1002/humu.22035  0.4
2012 Sincan M, Simeonov DR, Adams D, Markello TC, Pierson TM, Toro C, Gahl WA, Boerkoel CF. VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance. Human Mutation. 33: 593-8. PMID 22290570 DOI: 10.1002/humu.22034  0.4
2012 Markello TC, Carlson-Donohoe H, Sincan M, Adams D, Bodine DM, Farrar JE, Vlachos A, Lipton JM, Auerbach AD, Ostrander EA, Chandrasekharappa SC, Boerkoel CF, Gahl WA. Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function. Molecular Genetics and Metabolism. 105: 665-71. PMID 22277120 DOI: 10.1016/J.Ymgme.2011.12.015  0.4
2012 Markello TC, Han T, Carlson-Donohoe H, Ahaghotu C, Harper U, Jones M, Chandrasekharappa S, Anikster Y, Adams DR, Gahl WA, Boerkoel CF. Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering. Molecular Genetics and Metabolism. 105: 382-9. PMID 22264778 DOI: 10.1016/j.ymgme.2011.12.014  0.4
2012 Mammen C, Rupps R, Trnka P, Boerkoel CF. Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance. European Journal of Medical Genetics. 55: 96-8. PMID 22245519 DOI: 10.1016/j.ejmg.2011.12.006  0.4
2012 Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, ... ... Boerkoel CF, et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 51-9. PMID 22237431 DOI: 10.1038/gim.0b013e318232a005  0.4
2012 Gahl WA, Boerkoel CF, Boehm M. The NIH Undiagnosed Diseases Program: bonding scientists and clinicians. Disease Models & Mechanisms. 5: 3-5. PMID 22228787 DOI: 10.1242/dmm.009258  0.4
2012 Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA, et al. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration. European Journal of Human Genetics : Ejhg. 20: 476-9. PMID 22146942 DOI: 10.1038/Ejhg.2011.222  0.4
2012 Morimoto M, Souich Cd, Trinh J, McLarren KW, Boerkoel CF, Hendson G. Expression profile of NSDHL in human peripheral tissues. Journal of Molecular Histology. 43: 95-106. PMID 22113624 DOI: 10.1007/s10735-011-9375-x  0.4
2012 Lehman AM, du Souich C, Chai D, Eydoux P, Huang JL, Fok AK, Avila L, Swingland J, Delaney AD, McGillivray B, Goldowitz D, Argiropoulos B, Kobor MS, Boerkoel CF. 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. Clinical Genetics. 81: 56-63. PMID 21204797 DOI: 10.1111/J.1399-0004.2010.01615.X  0.4
2011 Buck A, du Souich C, Boerkoel CF. Minimal genotype--phenotype correlation for small deletions within distal 1p36. American Journal of Medical Genetics. Part A. 155: 3164-9. PMID 22065481 DOI: 10.1002/ajmg.a.34333  0.4
2011 Zieg J, Krepelova A, Baradaran-Heravi A, Levtchenko E, Guillén-Navarro E, Balascakova M, Sukova M, Seeman T, Dusek J, Simankova N, Rosik T, Skalova S, Lebl J, Boerkoel CF. Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. Pediatric Rheumatology Online Journal. 9: 27. PMID 21914180 DOI: 10.1186/1546-0096-9-27  0.4
2011 Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nature Genetics. 43: 732-4. PMID 21765412 DOI: 10.1038/ng.883  0.4
2010 Bansbach CE, Boerkoel CF, Cortez D. SMARCAL1 and replication stress: an explanation for SIOD? Nucleus (Austin, Tex.). 1: 245-8. PMID 21327070 DOI: 10.4161/Nucl.1.3.11739  0.4
2010 McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, ... ... Boerkoel CF, et al. Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. American Journal of Human Genetics. 87: 905-14. PMID 21129721 DOI: 10.1016/J.Ajhg.2010.11.004  0.4
2010 Vassel J, Rupps R, Krakow D, Puvanachandra N, Gardiner JA, Lazeo SR, Boerkoel CF. Fetal alcohol syndrome: a phenocopy of spondylocarpotarsal synostosis syndrome? Clinical Dysmorphology. 19: 175-80. PMID 20717009 DOI: 10.1097/MCD.0b013e3283398730  0.4
2010 Walton C, Interthal H, Hirano R, Salih MA, Takashima H, Boerkoel CF. Spinocerebellar ataxia with axonal neuropathy. Advances in Experimental Medicine and Biology. 685: 75-83. PMID 20687496 DOI: 10.1007/978-1-4419-6448-9_7  0.4
2010 Peñaherrera MS, Weindler S, Van Allen MI, Yong SL, Metzger DL, McGillivray B, Boerkoel C, Langlois S, Robinson WP. Methylation profiling in individuals with Russell-Silver syndrome. American Journal of Medical Genetics. Part A. 152: 347-55. PMID 20082469 DOI: 10.1002/Ajmg.A.33204  0.4
2010 Hunter KB, Lücke T, Spranger J, Smithson SF, Alpay H, André JL, Asakura Y, Bogdanovic R, Bonneau D, Cairns R, Cransberg K, Fründ S, Fryssira H, Goodman D, Helmke K, ... ... Boerkoel CF, et al. Schimke immunoosseous dysplasia: defining skeletal features. European Journal of Pediatrics. 169: 801-11. PMID 20013129 DOI: 10.1007/s00431-009-1115-9  0.4
2009 Friedman J, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibson WT, Langlois S, Lemyre E, Li HI, et al. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. Bmc Genomics. 10: 526. PMID 19917086 DOI: 10.1186/1471-2164-10-526  0.4
2009 du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF. Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. American Journal of Medical Genetics. Part A. 149: 2469-78. PMID 19842190 DOI: 10.1002/ajmg.a.33071  0.4
2009 Elizondo LI, Jafar-Nejad P, Clewing JM, Boerkoel CF. Gene clusters, molecular evolution and disease: a speculation. Current Genomics. 10: 64-75. PMID 19721813 DOI: 10.2174/138920209787581271  0.4
2009 Chou A, Boerkoel C, du Souich C, Rupps R. Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature. Clinical Genetics. 76: 214-8. PMID 19673952 DOI: 10.1111/J.1399-0004.2009.01206.X  0.4
2009 Cunningham D, Spychala K, McLarren KW, Garza LA, Boerkoel CF, Herman GE. Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse. Molecular Genetics and Metabolism. 98: 356-66. PMID 19631568 DOI: 10.1016/j.ymgme.2009.06.016  0.4
2009 du Souich C, Austin JC, Friedlander R, Boerkoel CF. A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders. American Journal of Medical Genetics. Part A. 149: 713-21. PMID 19253384 DOI: 10.1002/ajmg.a.32709  0.4
2009 Elizondo LI, Cho KS, Zhang W, Yan J, Huang C, Huang Y, Choi K, Sloan EA, Deguchi K, Lou S, Baradaran-Heravi A, Takashima H, Lücke T, Quiocho FA, Boerkoel CF. Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. Journal of Medical Genetics. 46: 49-59. PMID 18805831 DOI: 10.1136/jmg.2008.060095  0.4
2009 Lücke T, Kanzelmeyer N, Baradaran-Heravi A, Boerkoel CF, Burg M, Ehrich JH, Pape L. Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia. Pediatric Transplantation. 13: 482-9. PMID 18785907 DOI: 10.1111/j.1399-3046.2008.01013.x  0.4
2009 Thomas M, Adam S, du Souich C, van Allen M, Boerkoel CF. What can genomics do for health care? British Columbia Medical Journal. 51: 298-301.  0.4
2008 Baradaran-Heravi A, Thiel C, Rauch A, Zenker M, Boerkoel CF, Kaitila I. Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. American Journal of Medical Genetics. Part A. 146: 2013-7. PMID 18627050 DOI: 10.1002/ajmg.a.32406  0.4
2008 Deguchi K, Clewing JM, Elizondo LI, Hirano R, Huang C, Choi K, Sloan EA, Lücke T, Marwedel KM, Powell RD, Santa Cruz K, Willaime-Morawek S, Inoue K, Lou S, Northrop JL, ... ... Boerkoel CF, et al. Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. Journal of Neuropathology and Experimental Neurology. 67: 565-77. PMID 18520775 DOI: 10.1097/Nen.0B013E3181772777  0.4
2007 Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, ... ... Boerkoel CF, et al. Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? The Embo Journal. 26: 4732-43. PMID 17948061 DOI: 10.1038/Sj.Emboj.7601885  0.4
2007 Lücke T, Clewing JM, Boerkoel CF, Hartmann H, Das AM, Knauth M, Becker H, Donnerstag F. Cerebellar atrophy in Schimke-immuno-osseous dysplasia. American Journal of Medical Genetics. Part A. 143: 2040-5. PMID 17676601 DOI: 10.1002/ajmg.a.31878  0.4
2007 Brunetti-Pierri N, Hunter JV, Boerkoel CF. Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency? American Journal of Medical Genetics. Part A. 143: 200-4. PMID 17163521 DOI: 10.1002/ajmg.a.31573  0.4
2007 Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, ... ... Boerkoel CF, et al. Schimke immunoosseous dysplasia: suggestions of genetic diversity. Human Mutation. 28: 273-83. PMID 17089404 DOI: 10.1002/humu.20432  0.4
2007 Clewing JM, Antalfy BC, Lücke T, Najafian B, Marwedel KM, Hori A, Powel RM, Do AF, Najera L, SantaCruz K, Hicks MJ, Armstrong DL, Boerkoel CF. Schimke immuno-osseous dysplasia: a clinicopathological correlation. Journal of Medical Genetics. 44: 122-30. PMID 16840568 DOI: 10.1136/Jmg.2006.044313  0.4
2006 Lücke T, Tsikas D, Kanzelmeyer NK, Boerkoel CF, Clewing JM, Vaske B, Ehrich JH, Das AM. Vaso-occlusion in Schimke-immuno-osseous dysplasia: is the NO pathway involved? Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et MéTabolisme. 38: 678-82. PMID 17075778 DOI: 10.1055/s-2006-954584  0.4
2006 Lennon PA, Boerkoel CF, Plunkett K, Soukam S, Cheung SW, Patel A. A novel 8.5 MB dup(1)(p34.1p34.3) characterized by FISH in a child presenting with congenital heart defect and dysmorphic features. American Journal of Medical Genetics. Part A. 140: 1864-70. PMID 16892326 DOI: 10.1002/ajmg.a.31392  0.4
2006 Lücke T, Franke D, Clewing JM, Boerkoel CF, Ehrich JH, Das AM, Zivicnjak M. Schimke versus non-Schimke chronic kidney disease: an anthropometric approach. Pediatrics. 118: e400-7. PMID 16816006 DOI: 10.1542/peds.2005-2614  0.4
2006 Elizondo LI, Huang C, Northrop JL, Deguchi K, Clewing JM, Armstrong DL, Boerkoel CF. Schimke immuno-osseous dysplasia: a cell autonomous disorder? American Journal of Medical Genetics. Part A. 140: 340-8. PMID 16419127 DOI: 10.1002/Ajmg.A.31089  0.4
2005 Kilic SS, Donmez O, Sloan EA, Elizondo LI, Huang C, André JL, Bogdanovic R, Cockfield S, Cordeiro I, Deschenes G, Fründ S, Kaitila I, Lama G, Lamfers P, Lücke T, ... ... Boerkoel CF, et al. Association of migraine-like headaches with Schimke immuno-osseous dysplasia. American Journal of Medical Genetics. Part A. 135: 206-10. PMID 15884045 DOI: 10.1002/Ajmg.A.30692  0.4
2005 Lücke T, Billing H, Sloan EA, Boerkoel CF, Franke D, Zimmering M, Ehrich JH, Das AM. Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. American Journal of Medical Genetics. Part A. 135: 202-5. PMID 15880370 DOI: 10.1002/ajmg.a.30691  0.4
2004 Taha D, Boerkoel CF, Balfe JW, Khalifah M, Sloan EA, Barbar M, Haider A, Kanaan H. Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia. American Journal of Medical Genetics. Part A. 131: 194-9. PMID 15523612 DOI: 10.1002/ajmg.a.30356  0.4
2004 Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology. 63: 577-80. PMID 15304601  0.4
2004 Cho KS, Elizondo LI, Boerkoel CF. Advances in chromatin remodeling and human disease. Current Opinion in Genetics & Development. 14: 308-15. PMID 15172675 DOI: 10.1016/j.gde.2004.04.015  0.4
2003 Huang C, Sloan EA, Boerkoel CF. Chromatin remodeling and human disease. Current Opinion in Genetics & Development. 13: 246-52. PMID 12787786 DOI: 10.1016/S0959-437X(03)00054-6  0.4
2003 Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR. CMT4A: identification of a Hispanic GDAP1 founder mutation. Annals of Neurology. 53: 400-5. PMID 12601710 DOI: 10.1002/Ana.10505  0.4
2003 Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain : a Journal of Neurology. 126: 590-7. PMID 12566280 DOI: 10.1093/Brain/Awg059  0.4
2002 Lou S, Lamfers P, McGuire N, Boerkoel CF. Longevity in Schimke immuno-osseous dysplasia. Journal of Medical Genetics. 39: 922-5. PMID 12471207  0.4
2002 Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP. Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Annals of Neurology. 52: 836-42. PMID 12447940 DOI: 10.1002/ana.10404  0.4
2002 Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nature Genetics. 32: 267-72. PMID 12244316 DOI: 10.1038/Ng987  0.4
2002 Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schröder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR. Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Annals of Neurology. 51: 709-15. PMID 12112076 DOI: 10.1002/Ana.10213  0.4
2002 Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Research. 12: 713-28. PMID 11997338 DOI: 10.1101/gr.73702  0.4
2002 Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nature Genetics. 31: 74-8. PMID 11941369 DOI: 10.1038/ng867  0.4
2002 Boerkoel CF, Takashima H, Lupski JR. The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy. Current Neurology and Neuroscience Reports. 2: 70-7. PMID 11898586  0.4
2002 Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Annals of Neurology. 51: 190-201. PMID 11835375 DOI: 10.1002/Ana.10089  0.4
2002 Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nature Genetics. 30: 215-20. PMID 11799392 DOI: 10.1038/ng821  0.4
2001 Takashima H, Boerkoel CF, Lupski JR. Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 3: 335-42. PMID 11545686  0.4
2001 Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR. EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics. 3: 153-7. PMID 11523566 DOI: 10.1007/s100480100107  0.4
2001 Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics. 3: 107-9. PMID 11354824 DOI: 10.1007/S100480000101  0.4
2001 Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. American Journal of Human Genetics. 68: 325-33. PMID 11133365 DOI: 10.1086/318208  0.4
2000 Boerkoel CF, O'Neill S, André JL, Benke PJ, Bogdanoví? R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Fründ S, Geary DF, Ieshima A, Illies F, Joseph MW, et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. European Journal of Pediatrics. 159: 1-7. PMID 10653321  0.4
1999 Collin GB, Marshall JD, Boerkoel CF, Levin AV, Weksberg R, Greenberg J, Michaud JL, Naggert JK, Nishina PM. Alström syndrome: further evidence for linkage to human chromosome 2p13. Human Genetics. 105: 474-9. PMID 10598815 DOI: 10.1007/S004399900134  0.4
1999 Chang H, Bouman D, Boerkoel CF, Stewart AK, Squire JA. Frequent monoallelic loss of D13S319 in multiple myeloma patients shown by interphase fluorescence in situ hybridization Leukemia. 13: 105-109. PMID 10049044 DOI: 10.1038/Sj.Leu.2401208  0.4
1998 Jankov RP, Boerkoel CF, Hellmann J, Sirkin WL, Tümer Z, Horn N, Feigenbaum A. Lethal neonatal Menkes' disease with severe vasculopathy and fractures Acta Paediatrica, International Journal of Paediatrics. 87: 1297-1300. PMID 9894833 DOI: 10.1080/080352598750031013  0.4
1998 Boerkoel CF, Nowaczyk MJM, Blaser SI, Meschino WS, Weksberg R. Schimke immunoosseous dysplasia complicated by moyamoya phenomenon American Journal of Medical Genetics. 78: 118-122. PMID 9674900 DOI: 10.1002/(SICI)1096-8628(19980630)78:2<118::AID-AJMG4>3.0.CO;2-K  0.4
1998 Zaretsky JZ, Candotti F, Boerkoel C, Adams EM, Yewdell JW, Blaese RM, Plotz PH. Corrigendum: Retroviral transfer of acid α-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion (Human Gene Therapy (1997) 8, 13 (1555-1563)) Human Gene Therapy. 9: 980.  0.4
1995 Nichols RC, Raben N, Boerkoel CF, Plotz PH. Human isoleucyl-tRNA synthetase: Sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extension Gene. 155: 299-304. PMID 7721108 DOI: 10.1016/0378-1119(94)00634-5  0.4
1995 Boerkoel CF, Exelbert R, Nicastri C, Nichols RC, Miller FW, Plotz PH, Raben N. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II American Journal of Human Genetics. 56: 887-897. PMID 7717400  0.4
1995 Raben N, Nichols RC, Boerkoel C, Plotz P. Genetic defects in patients with glycogenosis type II (acid maltase deficiency) Muscle and Nerve. 3: S70-74. PMID 7603531  0.4
1993 Boerkoel CF, Federspiel MJ, Salter DW, Payne W, Crittenden LB, Kung HJ, Hughes SH. A New Defective Retroviral Vector System Based on the Bryan Strain of Rous Sarcoma Virus Virology. 195: 669-679. PMID 8393241 DOI: 10.1006/viro.1993.1418  0.4
1992 Boerkoel CF, Kung HJ. Transcriptional interaction between retroviral long terminal repeats (LTRs): Mechanism of 5′ LTR suppression and 3′ LTR promoter activation of c-myc in avian B-cell lymphomas Journal of Virology. 66: 4814-4823. PMID 1321271  0.4
1991 Kung HJ, Boerkoel C, Carter TH. Retroviral mutagenesis of cellular oncogenes: A review with insights into the mechanisms of insertional activation Current Topics in Microbiology and Immunology. 171: 1-25. PMID 1814689 DOI: 10.1007/978-3-642-76524-7_1  0.4
1990 Kung HJ, Pelley RJ, Shu HK, Maihle N, Raines M, Carter T, Boerkoel C, Moscovici G, Moscovici C. Retroviral insertional mutagenesis: the making of a receptor-oncogene Developments in Biological Standardization. 72: 139-144. PMID 2178108  0.4
1989 Pelley RJ, Maihle NJ, Boerkoel C, Shu HK, Carter TH, Moscovici C, Kung HJ. Disease tropism of c-erbB: Effects of carboxyl-terminal tyrosine and internal mutations on tissue-specific transformation Proceedings of the National Academy of Sciences of the United States of America. 86: 7164-7168. PMID 2550929 DOI: 10.1073/Pnas.86.18.7164  0.4
1987 Swift RA, Boerkoel C, Ridgway A, Fujita DJ, Dodgson JB, Kung HJ. B-lymphoma induction by reticuloendotheliosis virus: Characterization of a mutated chicken syncytial virus provirus involved in c-myc activation Journal of Virology. 61: 2084-2090. PMID 3035210 DOI: 10.1128/Jvi.61.7.2084-2090.1987  0.4
Show low-probability matches.