DPLM Faculty Profiles — Dr. Zariwala

Maimoona A. Zariwala

Maimoona A. Zariwala, PhD

Associate Professor

Office: 919-966-7050

E-mail: maimoona_zariwala@med.unc.edu

Research Interests

Genetic analysis of patients with primary ciliary dyskinesia (PCD).

Selected Publications

Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz K, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA. Mutations in SPAG1 as a cause of primary ciliary dyskinesia with defective outer and inner dynein arms. Am J Hum Genet. (in press).

Daniels ML, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, Dell SS, Erickson M, Collins FS, Knowles MR, Zariwala MA. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat. 2013 Jun 24. doi: 10.1002/humu.22371. [Epub ahead of print]

Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia: Recent advances in diagnostics, genetics and characterization of clinical disease. Am J Respir Crit Care Med. Review. 2013 Jun 24. [Epub ahead of print].

Funkhouser WK III, Niethammer M, Carson JL, Burns KA, Knowles MR, Leigh MW, Zariwala MA, Funkhouser WK. A new tool improves diagnostic test performance for transmission EM evaluation of axonemal dynein arms. Ultrastruct Pathol. 2013 Aug 19. [Epub ahead of print].

Leigh MW, Haxzucha MJ, Chawla KK, Baker BR, Brown DE, LaVange LM, Horton BJ, Qaqish B, Carson JL, Davis SD, Dell SD, Ferkol RW, Atkinson JJ, Olivier KN, Sagel SD, Rosenfeld M, Milla C, Lee HS, Krisher J, Zariwala MA, Knowles MR. Standardizing nasal nitric oxide measurement as a diagnostic test for primary ciliary dyskinesia.  Ann Am Thorac Soc. 2013 Sep 11. [Epub ahead of print].

Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia: In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2007 Jan 24 [updated 2013 Feb 28]. Review. Available at http://www.genetests.org

Zariwala MA, Gee HY, Szczepaniak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve J, Loges NT, Rosenfeld R, Diaz K, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath J, Kohl S, Lovric S, Hwang D-Y, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Amselem S, Williams DS, Mitchell BJ, Drummond LA, Otto EA, Omran H, Knowles MR, Hildebrandt F. Exome resequencing reveals ZMYND10 as necessary for motile cilia function. Am J Hum Genet. 2013 Aug 8;93(2):336-345.

Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Köhler G, Grieses M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJF, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K, UK10K, Roepman R, Zariwala M, Lo C, Mitchison HM, Knowles MR, Burdine RD, LoTurco JJ, Omran H. Dyslexia susceptibility 1 candidate 1 deficiency causes primary ciliary dyskinesia. Nat Genet. 2013 Aug 28;45(9):995-1003.

Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Koehler G, Haeffner K, Reyes-Mujica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo C, Katsanis N, Omran H. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013 Aug 8;93(2):357-367.

Ferkol T, Puffenberger E, Lie H, Helms C, Strauss K, Bowcock A, Carson J, Hazucha M, Morton H, Patel A, Leigh M, Knowles M, Zariwala M. Primary ciliary dyskinesia causing mutations in Amish and Mennonite communities. J Pediatr. 2013 Mar 7 S0022-3476(13)00136-4.

Antony D*, Becker-Heck A*, Zariwala MA*, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD, Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat. 2013 Mar;34(3):462-72. *Co-equal first authors.

Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2013 Jan 10;92(1):99-106.

Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2012 Oct 5;91(4):685-93.

Nakhleh N, Francis R, Giese Rachel, Tian X, Li Y, Zariwala M, Yagi H, Khalifa O, Kureshi S, Chatterjee B, Sabol S, Swisher M, Connelly P, Daniels M, Srinivasan A, Kuehl K, Kravitz N, Burns K, Sami I, Omran H, Barmada M, Olivier K, Chawla K, Leigh M, Jonas R, Knowles M, Leatherbury L, Lo Cecilia. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation. 2012 May 8;125(18):2232-42.

Knowles MR, Leigh MW, Zariwala M. Cutting edge genetic studies in primary ciliary dyskinesia. Thorax. 2012 May;67(5):464.

Knowles M, Leigh M, Carson J, Davis S, Dell S, Ferkol T, Olivier K, Sagel S, Rosenfeld M, Burns K, Minnix S, Michael A, Lori A, Hazucha M, Loges N, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA. Mutations of DNAH11 in primary ciliary dyskinesia patients with normal ciliary ultrastructure. Thorax. 2012 May;67(5):433-441.

Zariwala M. Primary Ciliary Dyskinesia. National Organization for Rare Disorders (NORD) Rare disease report updated for database (modified Nov 26, 2008, modified May 31, 2012). Available at http://www.rarediseases.org/search/rdblist.html

Zariwala MA, Omran H and Ferkol T. The emerging genetics of primary ciliary dyskinesia: Proc Am Thorac Soc: 2011, Sep;8(5): 430-433. Review.

Lobo LJ, Zariwala MA, Noone PG. Primary Ciliary Dyskinesias in adults: European Respiratory Monograph: 2011, 52: 130-149. Review.

Berg JS, Evans JP, Leigh MW, Omran H, Bizon C, Mane K, Knowles MR, Weck KE , Zariwala MA. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing. Genetics in Medicine. 2011 Mar;13(3):218-29.

Knowles MR, Morillas HN, Leigh M and Zariwala, M. Primary ciliary dyskinesia. In F.X. McCormack et al (Editors), Molecular Basis of Pulmonary Disease, Respiratory Medicine Series. Humana Press, Totowa, New Jersey, USA, 2010, Chapter 14, pp. 293-324.

Lie H, Zariwala MA, Helms C, Bowcock AM, Carson JL, Brown DE 3rd, Hazucha MJ, Forsen J, Molter D, Knowles MR, Leigh MW, Ferkol TW. Primary ciliary dyskinesia in Amish Communities. J Pediatr. 2010 Jun;156(6):1023-5.

Loges NT, Olbrich H, Becker-Heck A, Haffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nurnberg G, Reinhardt R, Omran H. Deletion and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet. 2009 Dec;85(6):883-89.

Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR and Zariwala MA, Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genetics in Medicine, 2009, 11: 473-487. Review.

Taylor-Cousar JL, Zariwala MA, Burch LH, Pace RG, Drumm ML, Calloway H, Fan H, Weston BW, Wright FA, Knowles MR. Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity. PLoS ONE. 2009 Jan; 4(1):e4270.

Zariwala MA, Omran H and Knowles MR. Genetic defects in ciliary structure and function. Annu Rev Physiol. 2007;69:423-50. Review.