Recent Publications (selected)

Daniel Doherty, MD, PhD: Juric-Sekhar G, Adkins J, Doherty D,* Hevner RF.* Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia. Acta Neuropathologica (2012) [in press]
*co-corresponding

Daniel Doherty, MD, PhD: Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics (2012) 44(2):193-9. PMID: 22246503.

Drs. Samuel Zinner and Gwen Glew: Peer Victimization In Youth With Tourette Syndrome and Other Chronic Tic Disorders. Zinner SH, Conelea CA, Glew GM, Woods DW, Budman CL. Child Psychiatry and Human Development. 2012;43(1):124-136. DOI: 10.1007/s10578-011-0249-y

Daniel Doherty, MD, PhD: The Ciliopathy Gene cc2d2a Controls Zebrafish Photoreceptor Outer Segment Development Through A Role In Rab8-Dependent Vesicle Trafficking. Bachmann-Gagescu R, Phelps IG, Stearns G, Link BA, Brockerhoff SE, Moens CB, Doherty D. Hum Mol Genet. 2011 Aug 10. [Epub ahead of print] PubMed PMID: 21816947.

Daniel Doherty, MD, PhD: Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes And Pathways. Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK. Cell. 2011 May 13;145(4):513-28. PubMed PMID: 21565611.

Drs. Daniel Doherty and Kathy Millen. Nature Medicine News And Views: Wormless Without Wingless. Doherty D, Millen KJ. Nat Med. 2011 Jun;17(6):663-5. Comment on Nat Med. 2011 Jun;17(6):726-31. PMID: 21647144 [PubMed - indexed for MEDLINE]

Samuel Zinner, MD: The roles of anxiety and depression in connecting tic severity and functional impairment. Lewin AB, Storch EA, Conelea CA, Woods DW, Zinner SH, Budman CL, Scahill LD, Compton SN, Walkup JT, Murphy TK. Journal of Anxiety Disorders. 2011; 25(2):164-168.

Drs. David Shurtleff and William O. Walker, Jr.: Obesity and myelomeningocele: anthropometric measures. Shurtleff DB, Walker WO, Duguay S, Peterson D, Cardenas D. J Spinal Cord Med. 2010;33(4):410-9.

William O. Walker, Jr. MD: Discrepancies in Health Care Funding for Individuals with Special Needs. Journal of Pediatric Rehabilitation Medicine 2010; 3: 159-162. Walker WO.

Samuel Zinner, MD: New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome. European Journal of Medical Genetics. Jill A. Rosenfeld, Yves Lacassie, Dima El-Khechen, Luis F. Escobar, James Reggin, Carolyn Heuer, Emily Chen, Lauren S. Jenkins, A. Thomas Collins, Samuel Zinner, Melanie Babcock, Bernice Morrow, Roger A. Schultz, Beth Torchia, Blake C. Ballif, Karen D. Tsuchiya and Lisa G. Shaffer.

Drs. Gwen Glew and William O. Walker, Jr: “Bullying Update: Are We Making Any Progress?” Pediatrics in Review 2010; 31: e68-74. Glew GM, Frey KS, Walker WO.

Dan Doherty, MD, PhD: Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am J Med Genet A. 2010 Jun;152A(6):1411-9. Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung BY, Langlois S, Yong SL, Lowry RB, Hildebrandt F, Trnka P.

Sam Zinner, MD: Movement Disorders I: Tics and Stereotypies. Pediatrics in Review. 2010;31:223.233. : Zinner SH, Mink JW.