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Dalal P, Leslie ND, Lindor NM, Gilbert DL, Espay AJ. Motor tics, stereotypies, and self-flagellation in primrose syndrome. Neurology. 2010 Jul 20;75(3):284-6.

Gilbert DL, Leslie EJ, Keddache M, Leslie ND. A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31. Mov Disord. 2009 Feb 15;24(3):364-70.

Burrow TA, Leslie ND. Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. Biologics. 2008 Jun;2(2):311-20.

Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA. Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2007 Dec;19(6):628-35. Review.

Halperin J, Devi SY, Elizure S, Stocco C, Shehu A, Rebourcet D, Unterman TG, Leslie ND, Le J, Binart N, Gibori, G. Prolactin signaling through the Short form of Its Receptor Represses Forkhead Transcription Factor FOXO3 and its Target Gene GALT Causing a Severe Ovarian Defect. Molecular Endocrinology. 2008 22:513-22.

Leslie, ND. Inborn errors and Pediatric Critical Care. In Wheeler, D ed.  Pediatric Critical Care Medicine: Basic Science and Clinical Evidence. Springer 2007.

Tinkle B, Lesli ND. Pompe Disease. Gene Clinics. 2007.

Grabowski GA, Hopkin RJ, Burrow RA, Leslie ND, Tinkle BT. Enzyme Reconstitution/Replacement Therapy for Lysosomal Storage Diseases. Current Opinion in Pediatrics. 2007 19:628-35.

Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu W, Leslie N, Levine J, Spencer C, McDonald M, DuMontier J, Michael H, Chien Y, Hopkin R, Vijayaraghavan S, Bruskin D, Barholomew D, van der Ploeg A, Clancy J, Prarin R, Morin G, Beck N, Delagastine G, Jokin M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE. Recombinant Human Acid -Alpha Glucosidase: Major Clinical Benefits in Infantile-Onset Pompe Disease. Neurology. 2007 68(2):99-109.

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Mushaben EM, Hershey GK, Pauciulo MW, Nichols WC, Le Cras TD. Chronic allergic inflammation causes vascular remodeling and pulmonary hypertension in BMPR2 hypomorph and wild-type mice.  PLoS ONE. 2012;6:e32468.

Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, Kreisler A, Ross OA, Nishioka K, Soto-Ortolaza AI, Cobb SA, Melrose HL, Behrouz B, Keeling BH, Bacon JA, Hentati E, Williams L, Yanagiya A, Sonenberg N, Lockhart PJ, Zubair AC, Uitti RJ, Aasly JO, Krygowska-Wajs A, Opala G, Wszolek ZK, Frigerio R, Maraganore DM, Gosal D, Lynch T, Hutchinson M, Bentivoglio AR, Valente EM, Nichols WC, Pankratz N, Foroud T, Gibson RA, Hentati F, Dickson DW, Destée A, Farrer MJ. Translation initiator EIF4G1 mutations in familial Parkinson disease.  Am J Hum Genet. 2011; 89:398-406.

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Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet. 2005;365:410-412.

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Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T. Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. Am J Hum Genet. 2002;71:124-135.

Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001;413:488-494.

Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA 3rd, Loyd JE, Nichols WC, Trembath RC. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium. Nat Genet. 2000;26:81-84.

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Bronicki LM, Stevenson RE, Spranger JW. Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood. Am J Med Genet C Semin Med Genet. 2015;169(4):314-27.

Péladeau C, Ahmed A, Amirouche A, Crawford Parks TE, Bronicki LM, Ljubicic V, Renaud JM, Jasmin BJ. Combinatorial therapeutic activation with heparin and AICAR stimulates additive effects on utrophin A expression in dystrophic muscles. Hum Mol Genet. 2016;25(1):24-43.

Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Riviere JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Ten New Cases Further Delineate the Syndromic Intellectual Disability Phenotype Caused by Mutations in DYRK1A. Eur J Hum Genet. 2015;23(11):1482-7.

Bronicki LM, Jasmin BJ. Emerging Complexity of the HuD/ELAVl4 Gene; Implications for Neuronal Development, Function, and Dysfunction. RNA. 2013;19(8):1019-37.

Bronicki LM, Belanger G, Jasmin BJ. Characterization of Multiple Exon 1 Variants in Mammalian HuD mRNA and Neuron-Specific Transcriptional Control via Neurogenin 2. J Neurosci. 2012;32(33):11164-75.

Bronicki LM, Jasmin BJ. Trans-Acting Factors Governing Expression of AChE mRNA. Front Mol Neurosci. 2012;5:36.

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Wang W, Wang C, Dawson DB, Thorland EC, Lundquist PA, Eckloff BW, Wu Yanhong, Baheti S, Evans JM, Scherer SS, Dyck PJ, Klein CJ. Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy. Neurology. 2016 May 10;86(19):1762-71.

Aisner DL, Berry A, Dawson DB, Hayden RT, Joseph L, Hill CE. A Suggested Molecular Pathology Curriculum for Residents: A Report of the Association for Molecular Pathology. J Mol Diagn. 2016 Mar;18(2):153-62.

Aypar U, Hoppman NL, Thorland EC, Dawson DB. Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features. Mol Cytogenet. 2016;9:26.

Kipp BR, Roellinger SE, Lundquist PA, Highsmith WE, Dawson DB. Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human alpha-globin gene cluster. J Mol Diagn. 2011 Sep;13(5):549-57.

Hoppman-Chaney NL, Dawson DB, Nguyen L, Sengupta S, Reynolds K, McPherson E, Velagaleti G. Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome. Am J Med Genet A. 2010 Aug;152A(8):2034-8.

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Guan MX. Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Mitochondrion. 2011 Mar;11(2):237-45.

Li R, Guan MX. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes. Mol Cell Biol. 2010 May;30(9):2147-54.

Wang X, Yan Q, Guan MX. Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration. J Mol Biol. 2010 Feb 5;395(5):1038-48.

Qian Y, Guan MX. Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation. Antimicrob Agents Chemother. 2009 Nov;53(11):4612-8.

Li R, Liu Y, Li Z, Yang L, Wang S, Guan MX. Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family. Hypertension. 2009 Aug;54(2):329-37.

Wang X, Yan Q, Guan MX. Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae. Mitochondrion. 2009 Jun;9(3):180-5.

Wang X, Lu J, Zhu Y, Yang A, Yang L, Li R, Chen B, Qian Y, Tang X, Wang J, Zhang X, Guan MX. Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet Genomics. 2008 Dec;18(12):1059-70.

Wang X, Yan Q, Guan MX. Deletion of the MTO2 gene related to tRNA modification causes a failure in mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae. FEBS Lett. 2007 Sep 4;581(22):4228-34.

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet. 2006 Aug;79(2):291-302.

Li R, Qu J, Zhou X, Tong Y, Hu Y, Qian Y, Lu F, Mo JQ, West CE, Guan MX. The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. Gene. 2006 Jul 5;376(1):79-86.

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Tenney JR, Hopkin RJ, Schapiro MB. Deletion of 14-3-3{varepsilon} and CRK: A Clinical Syndrome With Macrocephaly, Developmental Delay, and Generalized Epilepsy. J Child Neurol. 2010 Sep 10.

Burrow TA, Bailey LA, Kinnett DG, Hopkin RJ. Acute progression of neuromuscular findings in infantile Pompe disease. Pediatr Neurol. 2010 Jun;42(6):455-8.

Zarate YA, Martin LJ, Hopkin RJ, Bender PL, Zhang X, Saal HM. Evaluation of growth in patients with isolated cleft lip and/or cleft palate. Pediatrics. 2010 Mar;125(3):e543-9.

Zarate YA, Patterson L, Yin H, Hopkin RJ. A case of minimal change disease in a Fabry patient. Pediatr Nephrol. 2010 Mar;25(3):553-6.

Morris LM, Lim FY, Elluru RG, Hopkin RJ, Jaekle RK, Polzin WJ, Crombleholme TM. Severe micrognathia: indications for EXIT-to-Airway. Fetal Diagn Ther. 2009;26(3):162-6.

Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ. Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol. Am J Med Genet A. 2009 Aug;149A(8):1691-7.

Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. Characterization of congenital anomalies in individuals with choanal atresia. Arch Otolaryngol Head Neck Surg. 2009 Jun;135(6):543-7.

Kenny AP, Crimmins NA, Mackay DJ, Hopkin RJ, Bove KE, Leonis MA. Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: a case report. Pediatr Dev Pathol. 2009 Sep-Oct;12(5):417-20.

Zarate YA, Pacheco MC, Bove KE, Gorlin R, Zhao H, Hopkin RJ. Phenotypic and microscopic description of a new case of Ermine phenotype. Am J Med Genet A. 2009 Jun;149A(6):1253-6.

Guimaraes CV, Linam LE, Kline-Fath BM, Donnelly LF, Calvo-Garcia MA, Rubio EI, Livingston JC, Hopkin RJ, Peach E, Lim FY, Crombleholme TM. Prenatal MRI findings of fetuses with congenital high airway obstruction sequence. Korean J Radiol. 2009 Mar-Apr;10(2):129-34.

Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet. 2015 Mar 25;11(3):e1005097.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez M, Campeanu J, Griffin L, Groenewald S, Strickland A, Tao F, Speziani F, Caporali L, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes S, Prince J, Nemeth A, Carelli V, Huang T*, Zuchner S*, Dallman J*. Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder. Nature Genetics. 2015. * corresponding authors.

Ma H, Folmes CDL, Morey R, Ahmed R, Poulton J, Wang X, Huang T, Laurent LC, Terzic A, Amato P, Wolf DP, Mitalipov S. Genetic Correction and Metabolic Rescue of Pluripotent Cells from Patients with mtDNA Disease. Nature. 2015.

Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesv T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Neuropathy Target Esterase impairments result in a diverse spectrum of childhood and adult neurodegenerative disorders. Journal of Medical Genetics. 2015;52:85-94.

Riazifar H, Sun G, Wang X, Rupp A, Vemaraju S, Ross-Cisneros FN, Lang RA, Sadun AA, Hattar S, Guan M, Huang T. Phenotypic and Functional Characterization of Bst+/- Mouse Retina. Disease Model and Mechanisms. 2015.

Jiang P, Liang M, Liu X, Zhang M, Fu Q, Zhang S, Gao M, Zhang Z, Zhao F, Ji Y, Zhang J, Tong Y, Sun Y, Zhou X, Huang T, Qu J, Guan M. Mitochondrial ND4 mutations in 1281 Han Chinese subjects with Leber’s hereditary optic neuropathy. IOVS. 2015.

Barber JCK, Rosenfeld JA, Graham Jr JM, Kramer N, Lachlan K, Bateman MS, Collinson MN, Stadheim BF, Turner CLS, Stevens AK, Delk P, Weaver DD, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphries MV, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn S. Inside the 8p23.1 duplication syndrome; nine microduplications of likely or uncertain clinical significance. American Journal of Medical Genetics. 2015.

Kwong JQ, Davis J, Baines CP, Sargent MA, Karch J, Wang X, Huang T, Molkentin JD. Molkentin Genetic deletion of the mitochondrial phosphate carrier desensitizes the mitochondrial permeability transition pore and causes cardiomyopathy. Cell Death Differ. 2014 Aug;21(8):1209-17.

Gong S, Peng Y, Jiang P, Wang M, Fan M, Wang X, Zhou H, Li H, Yan Q, Huang T, Guan MX. A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential. Nucleic Acids Res. 2014 Jul;42(12):8039-48.

Yang L, Tan Z, Xue L, Guan M, Huang T, Li R. Species identification by analyses of mitochondrial rRNA genes. Scientific Reports. 2014.

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Martin LJ, Ding L, Zhang X, Kissebah AH, Olivier M, Benson DW.  A novel method, the Variant Impact On Linkage Effect Test (VIOLET), leads to improved identification of causal variants in linkage regions.  Eur J Hum Genet. 2014 Feb;22(2):243-7.

Martin LJ, Gupta J, Jyothula SSSK, Butsch Kovacic M, Biagini Myers JM, Patterson TL, Ericksen MB, He H, Gibson AM, Baye TM, Amirisetty S, Tsoras AM, Sha Y, Eissa NT, Hershey GK.  Functional variant in the autophagy-related 5 gene promoter is associated with childhood asthma. PLoS One. 2012;7(4):e33454.

Kottyan LC, Woo JG, Keddache M, Banach W, Crimmins NA, Dolan LM, Martin LJ. Novel variations in the adiponectin gene (ADIPOQ) may affect distribution of oligomeric complexes.  SpringerPlus. 2012 Dec;1(1):66.

Sadhasivam S,  Chidambaran C, Ngamprasertwong P, Esslinger HR, Prows C, Zhang X, Martin LJ, McAuliffe J. Race and unequal burden of perioperative pain and opioid related adverse effects in children.  Pediatrics. 2012 May;129(5):832-8.

Martin LJ, Lee SY, Couch SC, Morrison J, Woo JG.  Shared genetic contributions of fruit and vegetable consumption with body mass index in families 20 years after sharing a household.  Am J Clin Nutr. 2011 Oct;94(4):1138-43.

Martin LJ, Hinton RB, Zhang Z, Cripe LH, Benson DW.  Aorta measurements are heritable and influenced by bicuspid aortic valve.  Front Genet. 2011 Sep 5;2:61.

Martin LJ, Woo JG, Morrison JA. Evidence Of Shared Genetic Effects Between Pre And Post Obesity Epidemic BMI Levels.  Obesity. 2010 Jul;18(7):1378-82.

Rothenberg ME, Spergel JM, Sherrill JD, Annaiah K, Martin LJ, Cianferoni A, Gober L, Kim C, Glessner J, Frackelton E, Thomas K, Blanchard C, Liacouras C, Verma R, Aceves S, Collins MH, Brown-Whitehorn T, Putnam PE, Franciosi JP, Chiavacci RM, Grant SF, Abonia JP, Sleiman PM, Hakonarson H. Common variants at 5q22 associate with pediatric eosinophilic esophagitis. Nat Genet. 2010 Apr;42(4):289-91.

Martin LJ, Ramachandran V, Cripe LH, Hinton RB, Andelfinger G, Tabangin M, Shooner K, Keddache M, Benson DW. Evidence in Favor of Linkage to Human Chromosomal Regions 18q, 5q and 13q for Bicuspid Aortic Valve and Associated Cardiovascular Malformations.  Hum Gen. 2007 Apr;121(2):275-84.

Martin LJ, Woo JG, Daniels SR, Goodman E, Dolan LM. The Relationships of Adiponectin with Insulin and Lipids Are Strengthened with Increasing Adiposity.  J Clin Endocrinol Metab. 2005 Jul;90(7):4255-9. 

Izumi K, Takagi M, Parikh AS, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE. Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. Am J Med Genet A. 2010 Aug;152A(8):2115-9.

Marco EJ, Anderson JE, Neilson DE, Strober JB. Acute necrotizing encephalopathy in 3 brothers. Pediatrics. 2010 Mar;125(3):e693-8.

Gika AD, Rich P, Gupta S, Neilson DE, Clarke A. Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family. Dev Med Child Neurol. 2010 Jan;52(1):99-102.

López-Laso E, Mateos-González ME, Pérez-Navero JL, Camino-León R, Briones P, Neilson DE. [Infection-triggered familial or recurrent acute necrotizing encephalopathy]. An Pediatr (Barc). 2009 Sep;71(3):235-9.

Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet. 2009 Jan;84(1):44-51.

Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML. Cohen syndrome in the Ohio Amish. Am J Med Genet A. 2004 Jul 1;128A(1):23-8.

Neilson DE, Feiler HS, Wilhelmsen KC, Lynn A, Eiben RM, Kerr DS, Warman ML. Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13. Ann Neurol. 2004 Feb;55(2):291-4.

Neilson DE, Eiben RM, Waniewski S, Hoppel CL, Varnes ME, Bangert BA, Wiznitzer M, Warman ML, Kerr DS. Autosomal dominant acute necrotizing encephalopathy. Neurology. 2003 Jul 22;61(2):226-30.

Neilson DE, Brunger JW, Heeger S, Bamshad M, Robin NH. Mixed clefting type in Rapp-Hodgkin syndrome. Am J Med Genet. 2002 Apr 1;108(4):281-4.

Iankov ID*, Pandey MK* , Harvey M, Griesmann GE, Federspiel MJ, Russell SJ. Immunoglobulin g antibody-mediated enhancement of measles virus infection can bypass the protective antiviral immune response. J Virol 2006, 80 (17):8530-8540. *shared first authorship.

Kohl J, Balder R, Lewkowish I, Pandey MK , Hawlisch H, Wang L, Herman N, Best J, Zwirner J, Whitsett JA, Lambns JD, Paul R, Schmitz-Perreira S, Scharfstein J, Wills-Karp M.A. Regulatory role for the C5a anaphylatoxin on type 2 immunity in asthma . J Clin Invest 2006, 16 (3):783-796.

Jongerius I, Köhl J, Pandey MK, Ruyken M, Van Kessel KPM, Van Strijp JAG, Rooijakkers SHM. Staphylococcal complement evasion by various convertase-blocking molecules.  J Exp Med 2007, 204(10): 2461-2471.

Bestebroer J, Aerts PC, Rooijakkers SH, Pandey MK , Köhl J, van Strijp JA, de Haas CJ. Functional basis for complement evasion by staphylococcal superantigen-like7.  Cell Microbiol 2010, 12(10): 1506–1516.

Pandey MK, Rani R, Zhang W, Setchell K, Grabowski GA. Immunological cell type characterization and Th1-Th17 cytokine production in a mouse model of Gaucher disease. Mol Genet Metab 2012, 106:310-322.

Karsten CM*, Pandey MK*, Figge J, Taylor PR, McDonald JU, Strait RT, Harris NL, Koehl G, Brown GD, Finkelman FD, Koehl J. Galactosylated IgG1 links FcγRIIB and Dectin-1 to block complement-mediated inflammation. Nat Med 2012,18(9):1401-1406. *shared first authorship.

Pandey, MK., Grabowski GA. Immunological cells and functions in Gaucher disease. Crit Revi Onco 2013, 18(3): 197–220.

Stemerding AM, Köhl J, Pandey MK, Kuipers A, Leusen JH, Boross P, Nederend M, Vidarsson G, Weersink AY, van de Winkel JG, van Kessel KP, van Strijp JA. Staphylococcus aureus formyl peptide receptor-like 1 inhibitor (FLIPr) and its homologue FLIPr-like are potent FcγR antagonists that inhibit IgG-mediated effector functions. J Immunol 2013; 191(1): 353-362.

Pandey MK.  Molecular Basis for Downregulation of C5a-Mediated Inflammation by IgG1 Immune Complexes in Allergy and Asthma. Curr Allergy Asthma Rep 2013; 2013(6): 596-606.

Pandey MK , Nicholas JA, Xu Y, Zhang W, Setchell K, Grabowski GA. Gaucher Disease: Chemotactic factors and immunological cell invasion in a mouse model.  Mol Genet Metab 2014, 111(2): 163-171.

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Prows DR, Winterberg AV, Gibbons WJ Jr, Burzynski BB, Liu C, Nick TG. Reciprocal backcross mice confirm major loci linked to hyperoxic acute lung injury survival time. Physiol Genomics. 2009 Jul 9;38(2):158-68.

Glasser SW, Witt TL, Senft AP, Baatz JE, Folger D, Maxfield MD, Akinbi HT, Newton DA, Prows DR, Korfhagen TR. Surfactant protein C-deficient mice are susceptible to respiratory syncytial virus infection. Am J Physiol Lung Cell Mol Physiol. 2009 Jul;297(1):L64-72.

Glasser SW, Senft AP, Whitsett JA, Maxfield MD, Ross GF, Richardson TR, Prows DR, Xu Y, Korfhagen TR. Macrophage dysfunction and susceptibility to pulmonary Pseudomonas aeruginosa infection in surfactant protein C-deficient mice. J Immunol. 2008 Jul 1;181(1):621-8.

Prows DR, Hafertepen AP, Winterberg AV, Gibbons WJ Jr, Wesselkamper SC, Singer JB, Hill AE, Nadeau JH, Leikauf GD. Reciprocal congenic lines of mice capture the aliq1 effect on acute lung injury survival time. Am J Respir Cell Mol Biol. 2008 Jan;38(1):68-77.

Prows DR, Hafertepen AP, Winterberg AV, Gibbons WJ Jr, Liu C, Nick TG. Genetic analysis of hyperoxic acute lung injury survival in reciprocal intercross mice. Physiol Genomics. 2007 Aug 20;30(3):271-81.

Prows DR, Hafertepen AP, Gibbons WJ Jr, Winterberg AV, Nick TG. A genetic mouse model to investigate hyperoxic acute lung injury survival. Physiol Genomics. 2007 Aug 20;30(3):262-70.

Wesselkamper SC, McDowell SA, Medvedovic M, Dalton TP, Deshmukh HS, Sartor MA, Case LM, Henning LN, Borchers MT, Tomlinson CR, Prows DR, Leikauf GD. The role of metallothionein in the pathogenesis of acute lung injury. Am J Respir Cell Mol Biol. 2006 Jan;34(1):73-82.

Prows CA, Prows DR. Medication selection by genotype: How genetics is changing drug prescribing and efficacy. Am J Nurs. 2004 May;104(5):60-70; quiz 71. Review.

Prows DR, McDowell SA, Aronow BJ, Leikauf GD. Genetic susceptibility to nickel-induced acute lung injury. Chemosphere. 2003 Jun;51(10):1139-48.

McDowell SA, Gammon K, Zingarelli B, Bachurski CJ, Aronow BJ, Prows DR, Leikauf GD. Inhibition of nitric oxide restores surfactant gene expression following nickel-induced acute lung injury. Am J Respir Cell Mol Biol. 2003 Feb;28(2):188-98.

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Baboiu O, Collins M, Saal HM. Hepatic mesenchymal hamartoma: cytogenetic analysis of a case and review of the literature. Pediatric Pathology. 2008 Jul-Aug;11(4):295-299.

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Rieley MB, Stevenson DA, Viskochil DH, Tinkle BT, Martin LJ, Schorry EK. Variable expression of neurofibromatosis 1 in monozygotic twins. Am J Med Genet A. 2011 Mar;155A(3):478-85.

Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K, Gareth Evans D, Ferner RE, Giovannini M, Korf BR, Listernick R, North KN, Packer RJ, Parada LF, Peltonen J, Ramesh V, Reilly KM, Risner JW, Schorry EK, Upadhyaya M, Viskochil DH, Zhu Y, Hunter-Schaedle K, Giancotti FG. Back to the future: proceedings from the 2010 NF Conference. Am J Med Genet A. 2011 Feb;155(2):307-21.

Hummel TR, Jessen WJ, Miller SJ, Kluwe L, Mautner VF, Wallace MR, Lázaro C, Page GP, Worley PF, Aronow BJ, Schorry EK, Ratner N. Gene expression analysis identifies potential biomarkers of neurofibromatosis type 1 including adrenomedullin. Clin Cancer Res. 2010 Oct 15;16(20):5048-57.

Stevenson DA, Viskochil DH, Carey JC, Slater H, Murray M, Sheng X, D'Astous J, Hanson H, Schorry E, Moyer-Mileur LJ. Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography. Bone. 2009 Apr;44(4):585-9.

Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang FC, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A. 2009 Oct;149A(10):2327-38.

Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008 Oct 1;146A(19):2512-9.

Crawford AH, Parikh S, Schorry EK, Von Stein D. The immature spine in type-1 neurofibromatosis. J Bone Joint Surg Am. 2007 Feb;89 Suppl 1:123-42.

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Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL, Smolarek T, Dishop MK, Wert SE, Whitsett JA, Grabowski G, Carey BC, Stevens C, van der Loo JC, Trapnell BC. Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. J Exp Med. 2008 Nov 24;205(12):2703-10.

Bhatla D, Davies SM, Shenoy S, Harris RE, Crockett M, Shoultz L, Smolarek T, Bleesing J, Hansen M, Jodele S, Jordan M, Filipovich AH, Mehta PA. Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome. Bone Marrow Transplant. 2008 Aug;42(3):159-65.

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Mehta PA, Ileri T, Harris RE, Williams DA, Mo J, Smolarek T, Auerbach AD, Kelly P, Davies SM. Chemotherapy for myeloid malignancy in children with Fanconi anemia. Pediatr Blood Cancer. 2007 Jun 15;48(7):668-72.

D’Armiento J, Imai K, Schiltz J, Kolesnekova N, Sternberg D, Benson K, Pardo A, Selman M, Smolarek T, Vundavalli M, Sonnet J, Szabolcs M and Chada K. Identification of the Benign Mesenchymal Tumor Gene, HMGA2, in Lymphangiomyomatosis (LAM). Cancer Research. 2007;67(5):1902-1909.

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Xu YH, Sun Y, Barnes S, Grabowski GA. Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model. PLoS One. 2010 May 20;5(5):e10750.

Sun Y, Grabowski GA. Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease. Autophagy. 2010 Jul 14;6(5).

Xu YH, Barnes S, Sun Y, Grabowski GA. Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res. 2010 Jul;51(7):1643-75.

Sun Y, Liou B, Ran H, Skelton MR, Williams MT, Vorhees CV, Kitatani K, Hannun YA, Witte DP, Xu YH, Grabowski GA. Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. Hum Mol Genet. 2010 Mar 15;19(6):1088-97.

Sun Y, Ran H, Zamzow M, Kitatani K, Skelton MR, Williams MT, Vorhees CV, Witte DP, Hannun YA, Grabowski GA. Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet. 2010 Feb 15;19(4):634-47.

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Walters-Sen LC, Hashimoto S, Thrush DL, Reshmi S, Gastier-Foster J, Astbury C, Pyatt RE. Variability in pathogenicity prediction programs: Impact on clinical diagnostics. Mol Genet Genomic Med. 2015 March;3(2):99-110.

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Lindsley AW, Qian Y, Valencia CA, Shah K, Zhang K, Assa’ad A. Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation. J Clin Immunol. 2014 Nov;34(8):910-5.

Valencia CA, Indugula SR, Mathur A, Wei C, Brown J, Dell S, Cole I, Connor J, Zhang K. Misleading results from saliva samples of post bone marrow transplanted patients in exome analyses. Published Blood. 2014 Jul 24;124(4):660-1.

Zhang K, Chadrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood. 2014 Aug 21;124(8):1331-4.

Qian Y, Johnson J, Connor J, Valencia CA, Barasa N, Schubert J, Husami A, Kissell D, Zhang G, Weirauch M, Filipovich A, Zhang K. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. Pediatric Blood Cancer. 2014;61:1034–1040.

Theru Arumugam S, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH, Zhang K. Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss. Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16.

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Zhang K, Biroschak J, Glass DN, Thompson SD, Finkel T, Passo MH, Binstadt BA, Filipovich A, Grom AA. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum. 2008;58:2892-2896.

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