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Specialty Areas:

Genetic Analysis of Patients with Primary Ciliary Dyskinesia (PCD)

Research Focus:

Dr. Maimoona Zariwala has worked over the past decade to define the genetic basis of ciliopathies, with a focus on Primary Ciliary Dyskinesia (PCD). She is co-Investigator on two grants related to ciliary diseases, and recently had a proposal accepted by the NHLBI/NIH Exome.

Selected Bibliography:

  1. Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O’Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. PMID: 38662826.
  2. Dougherty GW, Ostrowski LE, Nöthe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjes N, Haarman EG, Maas SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, Barbry P, Zaragosi LE, Fierville M, Kliesch S, Wohlgemuth K, König J, George S, Loges NT, Ceppe A, Markovetz MR, Luo H, Guo T, Rizk H, Eldesoky T, Dahlke K, Boldt K, Ueffing M, Hill DB, Pang YP, Knowles MR, Zariwala MA, Omran H. Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis. Am J Respir Crit Care Med. 2024 Apr 16. doi: 10.1164/rccm.202308-1370OC. Epub ahead of print. PMID: 38626355.
  3. Gardner RA, Sagel SD, Knowles MR, Ferkol TW, Davis SD, Leigh MW, Zariwala MA. Decoding negative genetic panels in primary ciliary dyskinesia. Pediatr Pulmonol.2024 Mar;59(3):784-787. doi: 10.1002/ppul.26790.PMID: 38051289.
  4. Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team. Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial. Lancet Respir Med. 2024 Jan;12(1):21-33. doi: 10.1016/S2213-2600(23)00226-6. PMID: 37660715.
  5. Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ. Situs ambiguus is associated with adverse clinical outcomes in children with primary ciliary dyskinesia. Chest. 2023 Dec 9:S0012-3692(23)05841-5. doi: 10.1016/j.chest.2023.12.005. Epub ahead of print. PMID: 38072392.
  6. Hunter-Schouela J, Geraghty MT, Hegele RA, Dyment DA, St Pierre D, Richer J, Sheffield H, Zariwala MA, Knowles MR, Lehman A, Dell S, Shapiro AJ, Kovesi TA. First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit. Pediatr Pulmonol. 2023 Jul;58(7):1942-1949. doi: 10.1002/ppul.26414. PMID: 37088965. PMCID: PMC10330405.
  7. Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW. Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype. Ann Am Thorac Soc. 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. PMID: 36442147; PMCID: PMC10112400.
  8. Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype. Ann Am Thorac Soc. 2023 Mar;20(3):397-405. doi: 10.1513/AnnalsATS.202206-487OC. PMID: 36342963. PMCID: PMC9993158.
  9. Shapiro AJ, Sillon G, D’Agostino D, Baret L, López-Giráldez F, Mane S, Leigh MW, Davis SD, Knowles MR, Zariwala MA. HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French-Canadians. Ann Am Thorac Soc. 2023 Jan;20(1):140-144. doi: 10.1513/AnnalsATS.202203-253RL. PMID: 36112114. PMCID: PMC9819264.
  10. Wee WB, Leigh MW, Davis SD, Rosenfeld M, Sullivan KM, Sawras MG, Ferkol TW, Knowles MR, Milla C, Sagel SD, Zariwala MA, Pullenayegum E, Dell SD. Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia. Ann Am Thorac Soc. 2022 Nov;19(11):1865-1870. doi: 10.1513/AnnalsATS.202202-116OC. PMID: 35657736. PMCID: PMC9667809.
  11. Shapiro AJ, Stonebraker JR, Knowles MR, Zariwala MA. A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia. Am J Respir Cell Mol Biol. 2022 Oct;67(4):511-514. doi: 10.1165/rcmb.2022-0176LE. PMID: 36178856. PMCID: PMC9648669.
  12. Hannah WB, Seifert BA, Truty R, Zariwala MA, Ameel K, Zhao Y, Nykamp K, Gaston B. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. Lancet Respir Med. 2022 May;10(5):459-468. doi: 10.1016/S2213-2600(21)00453-7. PMID: 35051411. PMCID: PMC9064931.
  13. Wee WB, Kaspy KR, Sawras MG, Knowles MR, Zariwala MA, Leigh MW, Dell SD, Shapiro AJ. Going beyond the chest X-ray: Investigating laterality defects in primary ciliary dyskinesia. Pediatr Pulmonol. 2022 May;57(5):1318-1324. doi: 10.1002/ppul.25853. PMID: 35122416. PMCID: PMC9186022.
  14. Costain G, Liu Z, Mennella V, Radicioni G, Goczi AN, Albulescu A, Walker S, Ngan B, Manson D, Vali R, Khan M, Palaniyar N, Hill DB, Hall DA, Marshall CR, Knowles M, Zariwala MA, Kesimer M, Dell SD. Hereditary Mucin Deficiency Caused by Biallelic Loss-of-Function of MUC5B. Am J Respir Crit Care Med. 2022 Apr 1;205(7):761-768. doi: 10.1164/rccm.202106-1456OC. PMID: 35023825. PMCID: PMC9836224.
  15. Smith AJ, Bustamante-Marin XM, Yin W, Sears PR, Herring LE, Dicheva NN, López-Giráldez F, Mane S, Tarran R, Leigh MW, Knowles MR, Zariwala MA, Ostrowski LE. The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia. J Cell Sci. 2022 Mar 15;135(6):jcs259512. doi: 10.1242/jcs.259512. PMID: 35178554. PMCID: PMC8995097.
  16. Ostrowski LE, Yin W, Smith AJ, Sears PR, Bustamante-Marin XM, Dang H, Hildebrandt F, Daniels LA, Capps NA, Sullivan KM, Leigh MW, Zariwala MA, Knowles MR. Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype. Int J Mol Sci. 2022 Feb 3;23(3):1753. doi: 10.3390/ijms23031753. PMID: 35163670; PMCID: PMC8835943.
  17. Zawawi F, Shapiro AJ, Dell S, Wolter NE, Marchica CL, Knowles MR, Zariwala MA, Leigh MW, Smith M, Gajardo P, Daniel SJ. Otolaryngology Manifestations of Primary Ciliary Dyskinesia: A Multicenter Study. Otolaryngol Head Neck Surg. 2022 Mar;166(3):540-547. doi: 10.1177/01945998211019320. PMID: 34154450. PMCID: PMC9194911.
  18. Shapiro AJ, Kaspy K, Daniels MLA, Stonebraker JR, Nguyen VH, Joyal L, Knowles MR, Zariwala MA. Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus. Mol Genet Genomic Med. 2021 Jul;9(7):e1726. doi: 10.1002/mgg3.1726. PMID: 34132502; PMCID: PMC8372090.
  19. Zhao Y, Pinskey J, Lin J, Yin W, Sears PR, Daniels LA, Zariwala MA, Knowles MR, Ostrowski LE, Nicastro D. Structural insights into the cause of human RSPH4A primary ciliary dyskinesia. Mol Biol Cell. 2021 Jun 1;32(12):1202-1209. doi: 10.1091/mbc.E20-12-0806. PMID: 33852348. PMCID: PMC8351563.
  20. Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H. Motile ciliopathies. Nat Rev Dis Primers. 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. PMID: 32943623.
  21. Bustamante-Marin XM, Horani A, Stoyanova M, Charng WL, Bottier M, Sears PR, Yin WN, Daniels LA, Bowen H, Conrad DF, Knowles MR, Ostrowski LE, Zariwala MA, Dutcher SK. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. PLoS Genet. 2020 Aug 7;16(8):e1008691. doi: 10.1371/journal.pgen.1008691. PMID: 32764743; PMCID: PMC7444499.
  22. Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR, Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H, Knowles MR, Tearney GJ, Alkuraya FS, Sabatini DM. A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Nat Med. 2020 Feb;26(2):244-251. doi: 10.1038/s41591-019-0730-x. PMID: 31959991 PMCID: PMC7018620.
  23. Bustamante-Marin XM, Shapiro A, Sears PR, Charng WL, Conrad DF, Leigh MW, Knowles MR, Ostrowski LE, Zariwala MAIdentification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. J Hum Genet. 2020 Jan;65(2):175-180. doi: 10.1038/s10038-019-0686-1. PMID: 31636325. PMCID: PMC6920546.
  24. Vece TJ, Sagel SD, Zariwala MA, Sullivan KM, Burns KA, Dutcher SK, Yusupov R, Leigh MW, Knowles MR. Cytoplasmic “ciliary inclusions” in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol. 2020 Jan;55(1):130-135. doi: 10.1002/ppul.24528. PMID: 31549486. PMCID: PMC7068840.
  25. Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. 2007 Jan 24 [updated 2019 Dec 5]. PMID: 20301301.
  26. Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H. De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. doi: 10.1016/j.ajhg.2019.09.022. PMID: 31630787. PMCID: PMC6849114.
  27. Hannah WB, DeBrosse S, Kinghorn B, Strausbaugh S, Aitken ML, Rosenfeld M, Wolf WE, Knowles MR, Zariwala MA. The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. Mol Genet Genomic Med. 2019 Sep;7(9):e911. doi: 10.1002/mgg3.911. PMID: 31373179. PMCID: PMC6732318.
  28. Morimoto K, Hijikata M, Zariwala MA, Nykamp K, Inaba A, Guo TC, Yamada H, Truty R, Sasaki Y, Ohta K, Kudoh S, Leigh MW, Knowles MR, Keicho N. Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients. Mol Genet Genomic Med. 2019 Aug;7(8):e838. doi: 10.1002/mgg3.838. PMID: 31270959. PMCID: PMC6687623.
  29. Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. Am J Hum Genet. 2019 Feb 7;104(2):229-245. doi: 10.1016/j.ajhg.2018.12.009. PMID: 30665704. PMCID: PMC6372263.
  30. Zysman-Colman ZN, Kaspy KR, Alizadehfar R, NyKamp KR, Zariwala MA, Knowles MR, Vinh DC, Shapiro AJ. Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases. J Clin Immunol. 2019 Feb;39(2):216-224. doi: 10.1007/s10875-019-00613-8. PMID: 30911954. PMCID: PMC6870987.
  31. Leigh MW, Horani A, Kinghorn B, O’Connor MG, Zariwala MA, Knowles MR. Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia. Transl Sci Rare Dis. 2019;4(1-2):51-75. doi: 10.3233/TRD-190036. PMID: 31572664. PMCID: PMC6768089.
  32. Sanders CD, Leigh MW, Chao KC, Weck KE, King I, Wolf WE, Campbell DJ, Knowles MR, Zariwala MA, Shapiro AJ. The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort. Pediatr Pulmonol. 2018 Nov;53(11):1565-1573. doi: 10.1002/ppul.24159. PMID: 30238669.
  33. Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW; and Genetic Disorders of Mucociliary Clearance Consortium. Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med. 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC. PMID: 30067075. PMCID: PMC6353004.
  34. Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels LA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; on behalf of the ATS Assembly on Pediatrics. Diagnosis of primary ciliary dyskinesia: An official ATS clinical practice guideline. Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST. PMID: 29905515. PMCID: PMC6006411.
  35. Rosenfeld M, Ostrowski LE, Zariwala MA. Primary ciliary dyskinesia: Keep it on your radar. Thorax. 2018 Feb;73(2):101-102. doi: 10.1136/thoraxjnl-2017-210776. PMID: 29133352. PMCID: PMC6040643.
  36. Kristof AS, Petrof BJ, Hamid Q, Kolb M, Landry JS, MacKenzie A, McCormack FX, Murawski IJ, Moss J, Rauch F, Rosas IO, Shapiro AJ, Smith BM, Thomas DY, Trapnell BC, Young LR, Zariwala MA; ATS Assembly on Respiratory Cell and Molecular Biology. An Official American Thoracic Society Workshop Report: Translational research in rare respiratory diseases. Ann Am Thorac Soc. 2017 Aug;14(8):1239-1247. doi: 10.1513/AnnalsATS.201705-406WS. PMID: 28763267.
  37. Knowles MR, Zariwala M, Leigh M. Primary ciliary dyskinesia. Clin Chest Med. 2016 Sep;37(3):449-461. doi: 10.1016/j.ccm.2016.04.008. Review. PMID: 27514592. PMCID: PMC4988337.
  38. Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, Sagel SD, Milla C, Olivier KN, Sullivan KM, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer J, Hazucha MJ, Knowles MR. Clinical features and associated likelihood of primary ciliary dyskinesia in children and adolescents. Ann Am Thorac Soc. 2016 Aug;13(8):1305-1313. doi: 10.1513/AnnalsATS.201511-748OC. PMID: 27070726. PMCID: PMC5021075.
  39. Lewis WR, Malarkey EB, Tritschler D, Bower R, Pasek RC, Porath JD, Birket SE, Saunier S, Antignac C, Knowles MR, Leigh MW, Zariwala M, Challa AK, Kesterson RA, Rowe SM, Drummond IA, Parant JM, Hildebrandt F, Porter ME, Yoder BK, Berbari NF. Mutation of Growth Arrest Specific 8 reveals a role in motile cilia function and human disease. PLoS Genet. 2016 Jul 29;12(7):e1006220. doi: 10.1371/journal.pgen.1006220. PMID: 27472056. PMCID: PMC4966937.
  40. Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, Rosenfeld M, Olivier KN, Milla C, Daniel SJ, Kimple AJ, Manion M, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2016 Feb;51(2):115-32. doi: 10.1002/ppul.23304. PMID: 26418604; PMCID: PMC4912005.
  41. Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR; FORGE Canada Consortium, Hall DA, Dell SD, Kim RH. Whole-exome sequencing and targeted copy number analysis in primary ciliary dyskinesia. G3 (Bethesda). 2015 Jul 2;5(8):1775-81. doi: 10.1534/g3.115.019851. PMID: 26139845; PMCID: PMC4528333.
  42. Lobo J, Zariwala MA, Noone PG. Primary ciliary dyskinesia. Semin Respir Crit Care Med. 2015 Apr;36(2):169-79. doi: 10.1055/s-0035-1546748. PMID: 25826585.
  43. Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA. Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Mol Genet Genomic Med. 2015 Mar;3(2):137-42. doi: 10.1002/mgg3.124. PMID: 25802884; PMCID: PMC4367086.
  44. Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA. Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Mol Genet Genomic Med. 2015 Mar;3(2):137-42. doi: 10.1002/mgg3.124. PMID: 25802884; PMCID: PMC4367086.
  45. Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer JP, Hazucha MJ, Cooper ML, Knowles MR, Leigh MW. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med. 2015 Feb 1;191(3):316-24. doi: 10.1164/rccm.201409-1672OC. PMID: 25493340; PMCID: PMC4351577.
Maimoona Zariwala