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Developmental Medicine

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Publications

Daniel A. Doherty, MD, PhD
Rhombencephalosynapsis: an under-recognized hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus, and a broad spectrum of severity
Brain , 2012: in press
Daniel A. Doherty, MD, PhD
Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia
Acta Neuropathologica , 2012: in press
Daniel A. Doherty, MD, PhD
Joubert Syndrome: Brain and Spinal Cord Malformations in Genotyped Cases and Implications for Neurodevelopmental Functions of Primary Cilia.
Acta Neuropathologica , 2012: in press
Daniel A. Doherty, MD, PhD
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
Journal of Medical Genetics , 2012: 49(2)126-37
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
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Cell , 2011 May 13: 513-28
Lewin AB, Storch EA, Conelea CA, Woods DW, Zinner SH, Budman CL, Scahill LD, Compton SN, Walkup JT, Murphy TK
The roles of anxiety and depression in connecting tic severity and functional impairment.
Journal of anxiety disorders , 2011 Mar: 164-8
Daniel A. Doherty, MD, PhD
TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone
Am J Hum Genet , 2011: 89(6)713-30
Daniel A. Doherty, MD, PhD
COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification
Neuropediatrics , 2011: Epub ahead of print
Daniel A. Doherty, MD, PhD
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking
Hum Mol Genet , 2011: 20(20)4041-55
Rosenfeld JA, Lacassie Y, El-Khechen D, Escobar LF, Reggin J, Heuer C, Chen E, Jenkins LS, Collins AT, Zinner S, Babcock M, Morrow B, Schultz RA, Torchia BS, Ballif BC, Tsuchiya KD, Shaffer LG
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
European journal of medical genetics , 2011 Jan-Feb: 42-9
Conelea CA, Woods DW, Zinner SH, Budman C, Murphy T, Scahill LD, Compton SN, Walkup J
Exploring the Impact of Chronic Tic Disorders on Youth: Results from the Tourette Syndrome Impact Survey.
Child psychiatry and human development , 2010 Oct 29
Glew GM, Frey KS, Walker WO
Bullying update: are we making any progress?
Pediatrics in review / American Academy of Pediatrics , 2010 Sep: e68-74
Glew GM, Frey KS, Walker WO
Bullying update: are we making any progress?
Pediatrics in review / American Academy of Pediatrics , 2010 Sep: e68-74
Yocum A, McCoy SW, Bjornson KF, Mullens P, Burton GN
Reliability and validity of the standing heel-rise test.
Physical & occupational therapy in pediatrics , 2010 Aug: 190-204
Mink JW, Zinner SH
Movement disorders ii: chorea, dystonia, myoclonus, and tremor.
Pediatrics in review / American Academy of Pediatrics , 2010 Jul: 287-94; quiz 295
Bonomo J, Welsh JP, Manthiram K, Swartz JR
Comparing the functional properties of the Hsp70 chaperones, DnaK and BiP.
Biophysical chemistry , 2010 Jun: 58-66
Zinner SH, Mink JW
Movement disorders I: tics and stereotypies.
Pediatrics in review / American Academy of Pediatrics , 2010 Jun: 223-33
Sorensen MD, Koyle MA, Cowan CA, Zamilpa I, Shnorhavorian M, Lendvay TS
Injection volumes of dextranomer/hyaluronic acid are increasing in the endoscopic management of vesicoureteral reflux.
Pediatric surgery international , 2010 May: 509-13
Zinner SH, Coffey BJ
Developmental and behavioral disorders grown up: Tourette's disorder.
Journal of developmental and behavioral pediatrics : JDBP , 2009 Dec: 560-73
Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, Ropers HH, Barkovich AJ, Najmabadi H, Ayub M, Vincent JB
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
American journal of human genetics , 2009 Dec: 909-15
Welsh JP, Patel KG, Manthiram K, Swartz JR
Multiply mutated Gaussia luciferases provide prolonged and intense bioluminescence.
Biochemical and biophysical research communications , 2009 Nov 27: 563-8
Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO
Eye movement abnormalities in Joubert syndrome.
Investigative ophthalmology & visual science , 2009 Oct: 4669-77
Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
American journal of human genetics , 2009 Oct: 465-81
Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
The Journal of pediatrics , 2009 Sep: 386-92.e1
Doherty D
Joubert syndrome: insights into brain development, cilium biology, and complex disease.
Seminars in pediatric neurology , 2009 Sep: 143-54
Dillon ER, Bjornson KF, Jaffe KM, Hall JG, Song K
Ambulatory activity in youth with arthrogryposis: a cohort study.
Journal of pediatric orthopedics , 2009 Mar: 214-7
Freeman RD, Zinner SH, Müller-Vahl KR, Fast DK, Burd LJ, Kano Y, Rothenberger A, Roessner V, Kerbeshian J, Stern JS, Jankovic J, Loughin T, Janik P, Shady G, Robertson MM, Lang AE, Budman C, Magor A, Bruun R, Berlin CM Jr
Coprophenomena in Tourette syndrome.
Developmental medicine and child neurology , 2009 Mar: 218-27
Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
American journal of human genetics , 2008 Nov: 559-71
Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Paterson AD, Lutufullah M, Doherty D, Vincent JB, Ayub M
Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.
American journal of human genetics , 2008 Nov: 656
Vemulakonda VM, Cowan CA, Lendvay TS, Joyner BD, Grady RW
Surgical management of congenital ureteropelvic junction obstruction: a Pediatric Health Information System database study.
The Journal of urology , 2008 Oct: 1689-92; discussion 1692
Tieder JS, Cowan CA, Garrison MM, Christakis DA
Variation in inpatient resource utilization and management of apparent life-threatening events.
The Journal of pediatrics , 2008 May: 629-35, 635.e1-2
Salyer JW, DiBlasi RM, Crotwell DN, Cowan CA, Carter ER
The conversion to metered-dose inhaler with valved holding chamber to administer inhaled albuterol: a pediatric hospital experience.
Respiratory care , 2008 Mar: 338-45
Cardenas DD, Topolski TD, White CJ, McLaughlin JF, Walker WO
Sexual functioning in adolescents and young adults with spina bifida.
Archives of physical medicine and rehabilitation , 2008 Jan: 31-5
Bjornson KF, Belza B, Kartin D, Logsdon RG, McLaughlin J
Self-reported health status and quality of life in youth with cerebral palsy and typically developing youth.
Archives of physical medicine and rehabilitation , 2008 Jan: 121-7
Bjornson KF, Belza B, Kartin D, Logsdon R, McLaughlin J, Thompson EA
The relationship of physical activity to health status and quality of life in cerebral palsy.
Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association , 2008 Fall: 247-53
Tieder JS, Migita DS, Cowan CA, Melzer SM
Newborn care by pediatric hospitalists in a community hospital: effect on physician productivity and financial performance.
Archives of pediatrics & adolescent medicine , 2008 Jan: 74-8
Glew GM, Fan MY, Katon W, Rivara FP
Bullying and school safety.
The Journal of pediatrics , 2008 Jan: 123-8, 128.e1
Cardenas DD, Topolski TD, White CJ, McLaughlin JF, Walker WO
Sexual functioning in adolescents and young adults with spina bifida.
Archives of physical medicine and rehabilitation , 2008 Jan: 31-5
Bjornson K, Hays R, Graubert C, Price R, Won F, McLaughlin JF, Cohen M
Botulinum toxin for spasticity in children with cerebral palsy: a comprehensive evaluation.
Pediatrics , 2007 Jul: 49-58
Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nature genetics , 2007 Jul: 882-8
Parisi MA, Doherty D, Chance PF, Glass IA
Joubert syndrome (and related disorders) (OMIM 213300).
European journal of human genetics : EJHG , 2007 May: 511-21
Bjornson KF, Belza B, Kartin D, Logsdon R, McLaughlin JF
Ambulatory physical activity performance in youth with cerebral palsy and youth who are developing typically.
Physical therapy , 2007 Mar: 248-57
Bjornson KF, Belza B, Kartin D, Logsdon R, McLaughlin JF
Ambulatory physical activity performance in youth with cerebral palsy and youth who are developing typically.
Physical therapy , 2007 Mar: 248-57
Bjornson KF, Schmale GA, Adamczyk-Foster A, McLaughlin J
The effect of dynamic ankle foot orthoses on function in children with cerebral palsy.
Journal of pediatric orthopedics , 2006 Nov-Dec: 773-6
Lendvay TS, Cowan CA, Mitchell MM, Joyner BD, Grady RW
Augmentation cystoplasty rates at children's hospitals in the United States: a pediatric health information system database study.
The Journal of urology , 2006 Oct: 1716-20
Lendvay TS, Sorensen M, Cowan CA, Joyner BD, Mitchell MM, Grady RW
The evolution of vesicoureteral reflux management in the era of dextranomer/hyaluronic acid copolymer: a pediatric health information system database study.
The Journal of urology , 2006 Oct: 1864-7
Doherty D, Shurtleff DB
Pediatric perspective on prenatal counseling for myelomeningocele.
Birth defects research. Part A, Clinical and molecular teratology , 2006 Sep: 645-53
Placantonakis DG, Bukovsky AA, Aicher SA, Kiem HP, Welsh JP
Continuous electrical oscillations emerge from a coupled network: a study of the inferior olive using lentiviral knockdown of connexin36.
The Journal of neuroscience : the official journal of the Society for Neuroscience , 2006 May 10: 5008-16
Davis BE, Shurtleff DB, Walker WO, Seidel KD, Duguay S
Acquisition of autonomy skills in adolescents with myelomeningocele.
Developmental medicine and child neurology , 2006 Apr: 253-8
Johnson CP, Walker WO Jr, Palomo-González SA, Curry CJ
Mental retardation: diagnosis, management, and family support.
Current problems in pediatric and adolescent health care , 2006 Apr: 126-65
Davis BE, Shurtleff DB, Walker WO, Seidel KD, Duguay S
Acquisition of autonomy skills in adolescents with myelomeningocele.
Developmental medicine and child neurology , 2006 Apr: 253-8
Song KM, Bjornson KF, Cappello T, Coleman K
Use of the StepWatch activity monitor for characterization of normal activity levels of children.
Journal of pediatric orthopedics , 2006 Mar-Apr: 245-9
Welsh JP, Yamaguchi H, Zeng XH, Kojo M, Nakada Y, Takagi A, Sugimori M, Llinás RR
Normal motor learning during pharmacological prevention of Purkinje cell long-term depression.
Proceedings of the National Academy of Sciences of the United States of America , 2005 Nov 22: 17166-71
Glew GM, Fan MY, Katon W, Rivara FP, Kernic MA
Bullying, psychosocial adjustment, and academic performance in elementary school.
Archives of pediatrics & adolescent medicine , 2005 Nov: 1026-31
Krach LE, Kriel RL, Gilmartin RC, Swift DM, Storrs BB, Abbott R, Ward JD, Bloom KK, Brooks WH, Madsen JR, McLaughlin JF, Nadell JM
GMFM 1 year after continuous intrathecal baclofen infusion.
Pediatric rehabilitation , 2005 Jul-Sep: 207-13
Davis BE, Daley CM, Shurtleff DB, Duguay S, Seidel K, Loeser JD, Ellenbogan RG
Long-term survival of individuals with myelomeningocele.
Pediatric neurosurgery , 2005 Jul-Aug: 186-91
Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Prenatal diagnosis , 2005 Jun: 442-7
Christakis DA, Cowan CA, Garrison MM, Molteni R, Marcuse E, Zerr DM
Variation in inpatient diagnostic testing and management of bronchiolitis.
Pediatrics , 2005 Apr: 878-84
Zimmerman FJ, Glew GM, Christakis DA, Katon W
Early cognitive stimulation, emotional support, and television watching as predictors of subsequent bullying among grade-school children.
Archives of pediatrics & adolescent medicine , 2005 Apr: 384-8
Welsh JP, Ahn ES, Placantonakis DG
Is autism due to brain desynchronization?
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience , 2005 Apr-May: 253-63
Bjornson KF
Physical activity monitoring in children and youths.
Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association , 2005 Spring: 37-45
McLaughlin JF, Felix SD, Nowbar S, Ferrel A, Bjornson K, Hays RM
Lower extremity sensory function in children with cerebral palsy.
Pediatric rehabilitation , 2005 Jan-Mar: 45-52
Doherty D
Physiotherapy compared with advice for low back pain: study supports concept of self management of pain...
BMJ (Clinical research ed.) , 2004 Dec 11: 1402; discussion 1403
Shurtleff DB
Epidemiology of neural tube defects and folic acid.
Cerebrospinal fluid research , 2004 Dec 10: 5
Placantonakis DG, Bukovsky AA, Zeng XH, Kiem HP, Welsh JP
Fundamental role of inferior olive connexin 36 in muscle coherence during tremor.
Proceedings of the National Academy of Sciences of the United States of America , 2004 May 4: 7164-9
Krach LE, Kriel RL, Gilmartin RC, Swift DM, Storrs BB, Abbott R, Ward JD, Bloom KK, Brooks WH, Madsen JR, McLaughlin JF, Nadell JM
Hip status in cerebral palsy after one year of continuous intrathecal baclofen infusion.
Pediatric neurology , 2004 Mar: 163-8
Bjornson KF, Belza B
Ambulatory activity monitoring in youth: state of the science.
Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association , 2004 Summer: 82-9
Zinner SH, Batanian JR
Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome.
American journal of medical genetics. Part A , 2003 Oct 1: 164-7
Johnson JL, Welsh JP
Independently movable multielectrode array to record multiple fast-spiking neurons in the cerebral cortex during cognition.
Methods (San Diego, Calif.) , 2003 May: 64-78
Bjornson KF, McLaughlin JF, Loeser JD, Nowak-Cooperman KM, Russel M, Bader KA, Desmond SA
Oral motor, communication, and nutritional status of children during intrathecal baclofen therapy: a descriptive pilot study.
Archives of physical medicine and rehabilitation , 2003 Apr: 500-6
Bjornson KF, McLaughlin JF, Loeser JD, Nowak-Cooperman KM, Russel M, Bader KA, Desmond SA
Oral motor, communication, and nutritional status of children during intrathecal baclofen therapy: a descriptive pilot study.
Archives of physical medicine and rehabilitation , 2003 Apr: 500-6
Albright AL, Gilmartin R, Swift D, Krach LE, Ivanhoe CB, McLaughlin JF
Long-term intrathecal baclofen therapy for severe spasticity of cerebral origin.
Journal of neurosurgery , 2003 Feb: 291-5
Welsh JP
Functional significance of climbing-fiber synchrony: a population coding and behavioral analysis.
Annals of the New York Academy of Sciences , 2002 Dec: 188-204
Campbell WM, Ferrel A, McLaughlin JF, Grant GA, Loeser JD, Graubert C, Bjornson K
Long-term safety and efficacy of continuous intrathecal baclofen.
Developmental medicine and child neurology , 2002 Oct: 660-5
Beaudet N, Brodkin CA, Stover B, Daroowalla F, Flack J, Doherty D
Crab allergen exposures aboard five crab-processing vessels.
AIHA journal : a journal for the science of occupational and environmental health and safety , 2002 Sep-Oct: 605-9
McLaughlin JF, Hellmann JJ, Boggs CL, Ehrlich PR
Climate change hastens population extinctions.
Proceedings of the National Academy of Sciences of the United States of America , 2002 Apr 30: 6070-4
Placantonakis D, Cicirata F, Welsh JP
A dominant negative mutation of neuronal connexin 36 that blocks intercellular permeability.
Brain research. Molecular brain research , 2002 Jan 31: 15-28
Welsh JP, Placantonakis DG, Warsetsky SI, Marquez RG, Bernstein L, Aicher SA
The serotonin hypothesis of myoclonus from the perspective of neuronal rhythmicity.
Advances in neurology , 2002: 307-29
Welsh JP, Yuen G, Placantonakis DG, Vu TQ, Haiss F, O'Hearn E, Molliver ME, Aicher SA
Why do Purkinje cells die so easily after global brain ischemia? Aldolase C, EAAT4, and the cerebellar contribution to posthypoxic myoclonus.
Advances in neurology , 2002: 331-59
Abel MF, Damiano DL, McLaughlin JF, Song KM, Graubert CS, Bjornson KF
Comparison of functional outcomes from orthopedic and neurosurgical interventions in spastic diplegia.
Neurosurgical focus , 1998 Jan 15: e2
Abel MF, Damiano DL, McLaughlin JF, Song KM, Graubert CS, Bjornson KF
Comparison of functional outcomes from orthopedic and neurosurgical interventions in spastic diplegia.
Neurosurgical focus , 1998 Jan 15: e2
Llinás R, Lang EJ, Welsh JP, Makarenko VI
A New Approach to the Analysis of Multidimensional Neuronal Activity: Markov Random Fields.
Neural networks : the official journal of the International Neural Network Society , 1997 Jul: 785-789