Tamim Shaikh, PhD

Professional Titles

• Professor

Research Interests

My research focuses on three major areas; i) Copy Number Variation in Human Disease, ii) Genome Instability and Mechanisms of Rearrangement and iii) Discovery and Functional Characterization of Candidate Disease Genes

Publications

• Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan;33(1):165-79
• Coughlin CR 2nd, Scharer GH, Shaikh TH. Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med. 2012 Oct 30;4(10):80.
• Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome. Am J Med Genet A. 2013 Feb 7.
• Baker, P. Scharer, G., G., Creadon-Swindel, G. Aicher, J., Shaikh, T., et al., Riudor, E. del Toro, M., Scalais, E., and Van Hove, J. Defects in lipoate synthesis cause Variant Non-ketotic Hyperglycinemia. Society for Inherited Metabolic Disorders 2012 (March 31-April 3, 2012 Charlotte, North Carolina)
• Yu, H., Coughlin, C. R., Geiger, E. A., Friederich, M., Medne, L., Ming, J. E., Zackai, E. H., Van Hove, J. L., Gai, X., Scharer, G. H., Shaikh, T. H. Family matters: Exome sequencing can identify causal variants in isolated probands through family-based studies. Am. Soc. Hum. Genet. 2012 (November 6-10, San Francisco, #2884)
• Scharer, G. H., Creadon-Swindell, G., Spector, E., Coughlin, C., Shaikh, T. Single exon deletion in PCCA gene in patient with Propionic Acidemia highlights challenges to clinical whole exome CNV analysis. Am. Soc. Hum. Genet. 2012 (November 6-10, San Francisco, #451)
• Van Laarhoven, P., Neitzel, L., Geiger, E. A., Zackai, E. H., Ming, J. E., Shaikh, T. H. Family matters: Kabuki Syndrome: Functional analysis of MLL2 and KDM6A in Vertebrate Development. Am. Soc. Hum. Genet. 2012 (November 6-10, San Francisco, #819)
• Yu HC, Geiger EA, Medne L, Zackai EH, Shaikh TH. An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Am J Med Genet A. 2014 Jan 23. [Epub ahead of print] PubMed PMID: 24458743
• Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, Maclean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2014 Feb;137(Pt 2):366-79. PubMed PMID: 24334290
• Izumi K, Housam R, Kapadia C, Stallings VA, Medne L, Shaikh TH, Kublaoui BM, Zackai EH, Grimberg A. Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features. Am J Med Genet A. 2013 Dec;161A(12):3137-43. PubMed PMID: 24038875
• Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet. 2013 Sep 5;93(3):506-14. PubMed PMID: 24011988
• Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome. Am J Med Genet A. 2013 Mar;161A(3):527-33. PubMed PMID: 23401415
• Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet. 2015 Aug 1;24(15):4443-53. PubMed PMID: 25972376
• Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Am J Hum Genet. 2015 May 7;96(5):753-64. PubMed PMID: 25892112
• Gonzalez-Alegre P, Di Paola J, Wang K, Fabbro S, Yu HC, Shaikh TH, Darbro BW, Bassuk AG. Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?. Tremor Other Hyperkinet Mov (N Y). 2014;4:258. PubMed PMID: 25374765
• Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet. 2015 Aug;52(8):532-40. PubMed PMID: 25787132
• Quintana AM, Geiger EA, Achilly N, Rosenblatt DS, Maclean KN, Stabler SP, Artinger KB, Appel B, Shaikh TH. Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. Dev Biol. 2014 Dec 1;396(1):94-106. PubMed PMID: 25281006
• Yu HC, Geiger EA, Medne L, Zackai EH, Shaikh TH. An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Am J Med Genet A. 2014 Apr;164A(4):950-7. PubMed PMID: 24458743
• Rachubinski AL, Hepburn S, Elias ER, Gardiner K, Shaikh TH. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?. Prenat Diagn. 2017 Jan;37(1):31-36. PubMed PMID: 27859447
• Yu HC, Coughlin CR, Geiger EA, Salvador BJ, Elias ER, Cavanaugh JL, Chatfield KC, Miyamoto SD, Shaikh TH. Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000844. PubMed PMID: 27148590
• Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2014 Feb;137(Pt 2):366-79. PubMed PMID: 24334290
• Rachubinski AL, Hepburn S, Elias ER, Gardiner K, Shaikh TH. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?. Prenat Diagn. 2017 Jan;37(1):31-36. PubMed PMID: 27859447
• Scalais E, Osterheld E, Weitzel C, De Meirleir L, Mataigne F, Martens G, Shaikh TH, Coughlin CR 2nd, Yu HC, Swanson M, Friederich MW, Scharer G, Helbling D, Wendt-Andrae J, Van Hove JLK. X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. Pediatr Neurol. 2017 Jun;71:65-69. PubMed PMID: 28363510
• Quintana AM, Yu HC, Brebner A, Pupavac M, Geiger EA, Watson A, Castro VL, Cheung W, Chen SH, Watkins D, Pastinen T, Skovby F, Appel B, Rosenblatt DS, Shaikh TH. Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities. Hum Mol Genet. 2017 Aug 1;26(15):2838-2849. PubMed PMID: 28449119
• Yilmaz, F., Shaikh, T. H. and Emanuel, B. S. 2017. Segmental Duplications and Genetic Disease. eLS. 1–8. DOI: 10.1002/9780470015902.a0006230.pub3
• Shaikh, T.H. Copy Number Variation Disorders. Curr Genet Med Rep (2017) 5: 183. https://doi.org/10.1007/s40142-017-0129-2
• Hu T, Kruszka P, Martinez AF, Ming JE, Shabason EK, Raam MS, Shaikh TH, Pineda-Alvarez DE, Muenke M. Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):175-186. PubMed PMID: 30182442
• Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, Emanuel BS, Shaikh TH, Vermeesch JR. The 22q11 low copy repeats are characterized by unprecedented size and structural variability. Genome Res. 2019 Sep;29(9):1389-1401. PubMed PMID: 31481461
• Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A, Gibbs RA, Eichler EE, O'Roak BJ, Michaelson JJ, Volfovsky N, Shen Y, Chung WK. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med. 2019;4:19. PubMed PMID: 31452935
• Reyes-Nava NG, Yu HC, Coughlin CR 2nd, Shaikh TH, Quintana AM. Abnormal expression of GABA(A) receptor subunits and hypomotility upon loss of gabra1 in zebrafish. Biol Open. 2020 Apr 13;9(4). PubMed PMID: 32205311
• Fombonne E, Green Snyder L, Daniels A, Feliciano P, Chung W. Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort. J Autism Dev Disord. 2020 Oct;50(10):3679-3698. PubMed PMID: 32096123
• Fombonne E, Goin-Kochel RP, O'Roak BJ. Beliefs in vaccine as causes of autism among SPARK cohort caregivers. Vaccine. 2020 Feb 11;38(7):1794-1803. PubMed PMID: 31924427
• Null M, Yilmaz F, Astling D, Yu HC, Cole JB, Hallgrímsson B, Santorico SA, Spritz RA, Shaikh TH, Hendricks AE. Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans. HGG Adv. 2022 Jan 13;3(1):100082. PubMed PMID: 35047866
• Vervoort L, Dierckxsens N, Pereboom Z, Capozzi O, Rocchi M, Shaikh TH, Vermeesch JR. 22q11.2 Low Copy Repeats Expanded in the Human Lineage. Front Genet. 2021;12:706641. PubMed PMID: 34335701
• Yilmaz F, Null M, Astling D, Yu HC, Cole J, Santorico SA, Hallgrimsson B, Manyama M, Spritz RA, Hendricks AE, Shaikh TH. Genome-wide copy number variations in a large cohort of bantu African children. BMC Med Genomics. 2021 May 17;14(1):129. PubMed PMID: 34001112
• Mostovoy Y, Yilmaz F, Chow SK, Chu C, Lin C, Geiger EA, Meeks NJL, Chatfield KC, Coughlin CR, Surti U, Kwok PY, Shaikh TH. Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation. Genetics. 2021 Feb 9;217(2). PubMed PMID: 33724415
• Demarest S, Calhoun J, Eschbach K, Yu HC, Mirsky D, Angione K, Shaikh TH, Carvill GL, Benke TA. Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms. Dev Med Child Neurol. 2022 May;64(5):633-640. PubMed PMID: 35830182
• Null M, Yilmaz F, Astling D, Yu HC, Cole JB, Hallgrímsson B, Santorico SA, Spritz RA, Shaikh TH, Hendricks AE. Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans. HGG Adv. 2022 Jan 13;3(1):100082. PubMed PMID: 35047866
• Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH, Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nat Genet. 2022 Sep;54(9):1305-1319. PubMed PMID: 35982159
• Yilmaz F, Gurusamy U, Mosley TJ, Hallast P, Kim K, Mostovoy Y, Purcell RH, Shaikh TH, Zwick ME, Kwok PY, Lee C, Mulle JG. High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing. Genome Med. 2023 May 10;15(1):35. PubMed PMID: 37165454

Practice Locations

Children's Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Specialty Information

Specialties

• Clinical Genetics and Genomics (MD)

Conditions & Treatments

• Genetic Conditions and Testing