Recent Publications in Neural Development

 

Aldinger KA, Lehmann OJ, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB and Millen KJ (2009) FOXC1 is required for normal cerebellar development and is a major contributor to 6p25.3 Dandy-Walker malformation. Nature Genetics 41(9) 1037-42. PMID: 19668217

Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012;135(Pt 5):1348-1369.

Basel-Vanagaite L, Dobyns WB. Clinical and brain imaging heterogeneity of severe microcephaly. Pediatr Neurol 2010; 43: 7-16.

Bedogni F, Hodge RD, Elsen GE, Nelson BR, Daza RA, Beyer RP, Bammler TK, Rubenstein JL, Hevner RF.  Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex. 2010 Proc Natl Acad Sci U S A. 2010 Jul 20;107(29):13129-34. Epub 2010 Jul 6. PMCID:  PMC2919950

Bedogni F, Hodge RD, Nelson BR, Frederick EA, Shiba N, Daza RA, Hevner RF.  Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology.  Gene Expr Patterns. 2010 Jan;10(1):9-15. Epub 2009 Dec 3  PMCID: PMC2818569

Blank MC, Grinberg I,  Aryee E, Laliberte C, Chizhikov VV, Henkelman RM and  Millen KJ. (2011) Multiple cerebellar developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis. Development. 138(6):1207-16. PMID: 21307096

Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, Martin CL, Dobyns WB, Abdul-Rahman OA. Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. Eur J Hum Genet 2010;18(11):1216-20.

Chizhikov VV, Lindgren AG, Mishima Y, Aldinger KA, Miesegaes GR, Currle Monuki ES and Millen KJ. (2010) Lmx1a regulates fates and location of cells in the cerebellar rhombic lip and telencephalic cortical hem. PNAS. 107(23):10725-30. PMID: 20498066

Crone S, Viemari JC, Droho S, Mrejeru A, Ramirez JM, Sharma K (2012).  Irregular breathing following genetic ablation of V2a neurons.  J Neuroscience.  Jun 6; 32 (23): 7895-906.

Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia 2010; 51 Suppl 1: 5-9. PMC-ID:

Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet 2010; 47: 8-21. PMC-ID:

Dykes, IM, Lanier, J, Eng, SR, and Turner, EE.  Brn3a regulates neuronal subtype specification in the trigeminal ganglion by promoting Runx expression during sensory differentiation.  Neural Development, 2010; 5:3.  PMCID: PMC2829025.

Dykes, IM, Tempest, L, Lee, S-I, and Turner, EE.  Brn3a and Islet1 act epistatically to regulate the gene expression program of sensory differentiation.  J. Neuroscience 2011; 31: 9789-99.  PMCID: PMC3143040.

Elsen FP, Ramirez JM. (2005). Postnatal development differentially affects voltage-activated calcium currents in respiratory rhythmic versus non-rhythmic neurons of the pre-Bötzinger complex. J. Neurophysiol. 94 (2): 1423-1431.

Eng SR, Lanier J, Fedtsova N, Turner EE.  Coordinated regulation of gene expression by Brn3a in developing sensory ganglia.  Development 2004;131:3859-70.

Fedtsova N, Quina LA, Wang S, Turner EE.  Regulation of the development of tectal neurons and their axonal projections by transcription factors Brn3a and Pax7.  Developmental Biology 2008;316:6-20.  PMCID: PMC2396191

Graham JM, Jr., Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB. Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? Am J Med Genet A 2010;152A: 2268-76.

Graham JM, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB. Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible? Am J Med Genet A 2010;152A:2268-2276.

Gripp KW, Hopkins E, Doyle D, Dobyns WB. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. Am J Med Genet A 2010; 152A: 1161-8. PMC-ID: .

Hevner RF, Haydar TF.  The (not necessarily) convoluted role of basal radial glia in cortical neurogenesis. 2012.   Cereb Cortex.Feb;22(2):465-8. Epub 2011 Nov 23. PMCID: PMC3256413 [Available on 2013/2/1]

Hodge RD,  Nelson BR, Kahoud RJ, Yang R, Mussar KE, Reiner SL, Hevner RF.  Tbr2 is essential for hippocampal lineage progression from neural stem cells to intermediate progenitors and neurons.  J Neurosci. 2012 May 2;32(18):6275-87.

Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain 2012;135(Pt 5):1370-1386.

Judkins AR, Martinez D, Ferreira P, Dobyns WB, Golden JA. Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization. J Neuropathol Exp Neurol 2011; 70: 438-43. PMC-ID: 3113653

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 Neuropathol. 2012 May;123(5):695-709. Epub 2012 Feb 14.  PMID: 22331178

Kortum F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 2011; 48: 396-406.

Kumar RA, Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Uyanik G, Mancini GMS, Rees MI, Harvey RJ, Dobyns WB. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Molec Genet 2010; 19: 2817-27. PMC-ID: 2893812

Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet 2010; 47: 81-90. PMC-ID:

Lanier J, Quina LA, Eng SR, Cox E, Turner EE.  Brn3a target gene recognition in embryonic sensory neurons.  Developmental Biology 2007;302:703-16.  PMCID: PMC1852532

Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, Devries LS, Lev D, Kramer N, Hopkins E, Graham JM, Jr., Dobyns WB. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A 2012; 158A: 269-91.

Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB. The microcephaly-capillary malformation syndrome. Am J Med Genet A 2011; 155: 2080-7.

Moseley AE, Lieske SP, Wetzel RK, James PF, He S, Boivin GP, Witte DP, Ramirez JM, Sweadner KJ, Lingrel JB. (2003). Na,K-ATPase alpha 2 isoform is expressed in neurons and its absence disrupts neuronal activity in newborn mice. J Biol Chem. Feb 14;278(7):5317-24.

Nicholas AK, Khurshid M, Desir J, Carvalho OP, Cox JJ , Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG. WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet 2010;42(11):1010-4.

O’Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A 2010:2145-2159. PMCID:

Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms. Pediatr Neurol 2011;45:355-367.

Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB. Copy number variants and infantile spasms: Evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet 2011; 19: 1238-45. PMC-ID: 3230360

Quina LA, Pak W, Lanier J, Banwait P, Gratwick K, Liu Y, Velasquez T, O’Leary DDM, Goulding M, Turner EE.  Brn3a-expressing retinal ganglion cells project specifically to thalamocortical and collicular visual pathways.  J. Neuroscience 2005;25:11595-11604.  http://www.jneurosci.org/ cgi/content/full/25/50/11595

Quina LA, Tempest L, Hsu Y-W, Cox TC, Turner EE. Hmx1 is required for the normal development of somatosensory neurons in the geniculate ganglion. Developmental Biology 2012; 365:  152-163.  PMCID: pending.

Quina LA, Wang S, Ng L and Turner EE.  Brn3a and Nurr1 mediate a gene regulatory pathway for habenula development.  J. Neuroscience 2009; 29, 14309-14322.  PMCID: PMC2802832.

Ramirez JM, Quellmalz UJA., Richter DW. (1996) Postnatal changes in the mammalian respiratory network as revealed by the transverse brainstem slice preparation of mice. Journal of Physiology 491: 799-812.

Ramirez JM, Quellmalz UJA, Wilken, B. (1997) Developmental Changes in the Hypoxic Resonse of the Hypoglossus Respiratory Motor Output in Vitro. Journal of Neurophysiology 78: 383-392.

Riviere JB, Mirzaa GM, O’Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Majewski J, Bulman DE, O’Driscoll M, Shendure J, Graham JM, Jr., Boycott KM, Dobyns WB. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012 online.

Rivière JB, van Bon BWM, Hoischen A, Kholmanskikh SS, O’Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns J-P, Gripp KW, Kempers M, Kleefstra T, Mancini GMS, Nowaczyk MJM, van Ravenswaaij-Arts CMA, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BBA, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 2012;44(4):440-444, S441-442.

Sun Y, Dykes IM, Liang X, Eng SR, Evans S, and Turner EE.  A central role for Islet1 in sensory neuron development linking sensory and spinal gene regulatory programs.  Nature Neuroscience 2008;11, 1283-1293.  Comment in:  http://www.nature.com/neuro/journal/v11/n11/full/nn1108-1246.html  PMCID: PMC2605652.

Tryba AK, Ramirez JM. (2006). Gasping – A respiratory behavior dependent on serotonin. J. Neuroscience, Mar 8;26(10):2623-34

Wang SR and Turner EE.  Expression of dopamine pathway genes in the midbrain is independent of known ETS transcription factor activity.  J. Neuroscience 2010; 30: 9224-7.  PMCID: PMC2910254.

Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topcu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet 2010;42(11):1015-20.

McCrory P, Meeuwisse WH, Aubry M, Cantu B, Dvořák J, Echemendia RJ, Engebretsen L, Johnston K, Kutcher JS, Raftery M, Sills A, Benson BW, Davis GA, Ellenbogen R, Guskiewicz K, Herring SA, Iverson GL, Jordan BD, Kissick J, McCrea M, McIntosh AS, Maddocks D, Makdissi M, Purcell L, Putukian M, Turner M, Schneider K, Tator CH. TEMPORARY REMOVAL: Consensus Statement On Concussion In Sport – The 4th International Conference On Concussion In Sport Held In Zurich, November 2012. PM R. 2013 Feb 27.

Vavilala MS, Kernic MA, Rivara FP, Zatzick DF, Bell MJ, Wainwright M, Groner JI, Giza CC, Mink R, Ellenbogen R, Boyle L, Mitchell P, Kannan N. Triage of Children with Moderate and Severe Traumatic Brain Injury to Trauma Centers. J Neurotrauma. 2013 Jan 24.

Ellenbogen RG. Editorial: Sports and concussion. J Neurosurg. 2012 Dec;117(6):1089-90; discussion 1090-1.

Ryan CG, Thompson RE, Temkin NR, Crane PK, Ellenbogen RG, Elmore JG. Acute traumatic subdural hematoma: current mortality and functional outcomes in adult patients at a Level I trauma center. J Trauma Acute Care Surg. 2012 Nov;73(5):1348-54.

Osbun JW, Ellenbogen RG, Chesnut RM, Chin LS, Connolly PJ, Cosgrove GR, Delashaw JB Jr, Golfinos JG, Greenlee JD, Haines SJ, Jallo J, Muizelaar JP, Nanda A, Shaffrey M, Shah MV, Tew JM Jr, van Loveren HR, Weinand ME, White JA, Wilberger JE. A multicenter, single-blind, prospective randomized trial to evaluate the safety of a polyethylene glycol hydrogel (Duraseal Dural Sealant System) as a dural sealant in cranial surgery. World Neurosurg. 2012 Nov;78(5):498-504.

Northcott PA, Shih DJ, Peacock J, Garzia L, Morrissy AS, Zichner T, Stütz AM, Korshunov A, Reimand J, Schumacher SE, Beroukhim R, Ellison DW, Marshall CR, Lionel AC, Mack S, Dubuc A, Yao Y, Ramaswamy V, Luu B, Rolider A, Cavalli FM, Wang X, Remke M, Wu X, Chiu RY, Chu A, Chuah E, Corbett RD, Hoad GR, Jackman SD, Li Y, Lo A, Mungall KL, Nip KM, Qian JQ, Raymond AG, Thiessen NT, Varhol RJ, Birol I, Moore RA, Mungall AJ, Holt R, Kawauchi D, Roussel MF, Kool M, Jones DT, Witt H, Fernandez-L A, Kenney AM, Wechsler-Reya RJ, Dirks P, Aviv T, Grajkowska WA, Perek-Polnik M, Haberler CC, Delattre O, Reynaud SS, Doz FF, Pernet-Fattet SS, Cho BK, Kim SK, Wang KC, Scheurlen W, Eberhart CG, Fèvre-Montange M, Jouvet A, Pollack IF, Fan X, Muraszko KM, Gillespie GY, Di Rocco C, Massimi L, Michiels EM, Kloosterhof NK, French PJ, Kros JM, Olson JM, Ellenbogen RG, Zitterbart K, Kren L, Thompson RC, Cooper MK, Lach B, McLendon RE, Bigner DD, Fontebasso A, Albrecht S, Jabado N, Lindsey JC, Bailey S, Gupta N, Weiss WA, Bognár L, Klekner A, Van Meter TE, Kumabe T, Tominaga T, Elbabaa SK, Leonard JR, Rubin JB, Liau LM, Van Meir EG, Fouladi M, Nakamura H, Cinalli G, Garami M, Hauser P, Saad AG, Iolascon A, Jung S, Carlotti CG, Vibhakar R, Ra YS, Robinson S, Zollo M, Faria CC, Chan JA, Levy ML, Sorensen PH, Meyerson M, Pomeroy SL, Cho YJ, Bader GD, Tabori U, Hawkins CE, Bouffet E, Scherer SW, Rutka JT, Malkin D, Clifford SC, Jones SJ, Korbel JO, Pfister SM, Marra MA, Taylor MD. Subgroup-specific structural variation across 1,000 medulloblastoma genomes. Nature. 2012 Aug 2;488(7409):49-56.

Khechoyan D, Schook C, Birgfeld CB, Khosla RK, Saltzman B, Teng CC, Ettinger R, Gruss JS, Ellenbogen R, Hopper RA. Changes in frontal morphology after single-stage open posterior-middle vault expansion for sagittal craniosynostosis. Plast Reconstr Surg. 2012 Feb;129(2):504-16.

Ferreira M, Nahed BV, Babu MA, Walcott BP, Ellenbogen RG, Sekhar LN. Trapped fourth ventricle phenomenon following aneurysm rupture of the posterior circulation: case reports. Neurosurgery. 2012 Jan;70(1):E253-8; discussion E258.

 

Traudt CM, Juul SE. Erythropoietin as a neuroprotectant for neonatal brain injury: animal models. Methods Mol Biol. 2013;982:113-26.

 

Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 2012 Oct;158A(10):2393-406.

Maurano MT, Humbert R, Rynes E, Thurman RE, Haugen E, Wang H, Reynolds AP, Sandstrom R, Qu H, Brody J, Shafer A, Neri F, Lee K, Kutyavin T, Stehling-Sun S, Johnson AK, Canfield TK, Giste E, Diegel M, Bates D, Hansen RS, Neph S, Sabo PJ, Heimfeld S, Raubitschek A, Ziegler S, Cotsapas C, Sotoodehnia N, Glass I, Sunyaev SR, Kaul R, Stamatoyannopoulos JA. Systematic localization of common disease-associated variation in regulatory DNA. Science. 2012 Sep 7;337(6099):1190-5.

 

Sillitoe RV, George-Jones NA, Millen KJ, Hawkes R. Purkinje cell compartmentalization in the cerebellum of the spontaneous mutant mouse dreher. Brain Struct Funct. 2012 Nov 18.

Quina LA, Tempest L, Hsu Y-W, Cox TC, Turner EE. Hmx1 is required for the normal development of somatosensory neurons in the geniculate ganglion. Developmental Biology 2012; 365:152-163. 

Lallemend F, Sterzenbach U, Hadjab-Lallemend S, Aquino JB, Castelo-Branco G, Sinha I, Villaescusa JC, Levanon D, Wang Y, Franck MC, Kharchenko O, Adameyko I, Linnarsson S, Groner Y, Turner EE, and Ernfors P.  Positional differences of axon growth rates between sensory neurons encoded by runx3.  Embo Journal 2012; 31:718-3729. 

Quina LA, Kuramoto T, Luquetti DV, Cox,TC, Serikawa T, and Turner EE. Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a novel cause of congenital ear malformation.  Disease Models and Mechanisms 2012; 6:812-22. 

Turner, EE. Nerve endings reveal hidden diversity in the skin.  eLife 2012; 1:e00352 (insight/minireview). 

 

Huilgol D, Udin S, Shimogori T, Saha B, Roy A, Aizawa S, Hevner RF, Meyer G, Ohshima T, Pleasure SJ, Zhao Y, Tole S. Dual origins of the mammalian accessory olfactory bulb revealed by an evolutionarily conserved migratory stream. Nat Neurosci. 2013 Feb;16(2):157-65.

Malik S, Vinukonda G, Vose LR, Diamond D, Bhimavarapu BB, Hu F, Zia MT, Hevner R, Zecevic N, Ballabh P. Neurogenesis continues in the third trimester of pregnancy and is suppressed by premature birth. J Neurosci. 2013 Jan 9;33(2):411-23.

Myshrall TD, Moore SA, Ostendorf AP, Satz JS, Kowalczyk T, Nguyen H, Daza RA, Lau C, Campbell KP, Hevner RF. Dystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex. J Neuropathol Exp Neurol. 2012 Dec;71(12):1047-63.

Diaz-Horta O, Sirmaci A, Doherty D, Nance W, Arnos K, Pandya A, Tekin M. GPSM2 mutations in Chudley-McCullough syndrome. Am J Med Genet A. (2012) 158A(11):2972-3.

Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O’Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty D, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F. Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling. Cell (2012) 150(3):533-48.

Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, Ibrahim S, Frye M, Ansar M, Vincent JB. Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability. American Journal of Human Genetics. (2012) 90(5):856-63.

Juric-Sekhar G, Adkins J, Doherty D,1 Hevner RF.1 Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia. Acta Neuropathologica (2012) 123(5):695-709.

Doherty D, Millen KJ, Barkovich AJ. Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. Lancet Neurology (2013) 12(4):381-93.