Personalized Genomic Medicine

Publications

Oncology
Genetics
Maternal Fetal Medicine
Neurogenetics & Mitochondrial Diseases


Oncology

Hussein S, Gill K, Baer LN, Hoehn D, Mansukhani M, Jobanputra V, Bhagat G, Alobeid B. Practical diagnostic approaches to composite plasma cell neoplasm and low grade B-cell lymphoma/clonal infiltrates in the bone marrow.  Hematol Oncol. 2014 Jan 3. doi: 10.1002/hon.2129. [Epub ahead of print] PMID:24395190

Tsankova NM, Bevan C, Jobanputra V, Ko YC, Mayer EW, Lefkowitch JH, Mansukhani M, Rowland LP, Bhagat G, Tanji K.  Peripheral T-cell lymphoma emerging in a patient with aggressive polymyositis: molecular evidence for neoplastic transformation of an oligoclonal T-cell infiltrate.  Acta Neuropathol. 2013 Oct;126(4):595-601. doi: 10.1007/s00401-013-1164-z. Epub 2013 Aug 13. PMID:23942639

Margolskee E, Jobanputra V, Lewis SK, Alobeid B, Green PH, Bhagat G.  Indolent small intestinal CD4+ T-cell lymphoma is a distinct entity with unique biologic and clinical features.  PLoS One. 2013 Jul 4;8(7):e68343. doi: 10.1371/journal.pone.0068343. Print 2013.  PMID:23861889

Narayan G, Xie D, Freddy AJ, Ishdorj G, Do C, Satwani P, Liyanage H, Clark L, Kisselev S, Nandula SV, Scotto L, Alobeid B, Savage D, Tycko B, O'Connor OA, Bhagat G, Murty VV. PCDH10 promoter hypermethylation is frequent in most histologic subtypes of mature lymphoid malignancies and occurs early in lymphomagenesis.  Genes Chromosomes Cancer. 2013; 52:1030-41.

Alcalay RN, Clark LN, Marder KS, Bradley WE. Lack of association between cancer history and PARKIN genotype: A family based study in PARKIN/Parkinson's Families.  Genes Chromosomes Cancer. 2012 Dec;51(12):1109-13.

Ewalt M, Nandula S, Phillips A, Alobeid B, Murty VV, Mansukhani MM, Bhagat G. Real-time PCR-based analysis of BRAF V600E mutation in low and intermediate grade lymphomas confirms frequent occurrence in hairy cell leukaemia. Hematol Oncol. 30:190-3, 2012.

Greenlee H, Shaw J, Lau YK, Naini A, Maurer M. Lack of effect of coenzyme q10 on doxorubicin cytotoxicity in breast cancer cell cultures. Integr Cancer Ther. 2012 Sep;11(3):243-50.

Orjuela MA, Liu X, Miller RL, Warburton D, Tang D, Jobanputra V, Hoepner L, Suen IH, Diaz-Carreño S, Li Z, Sjodin A, Perera FP. Urinary naphthol metabolites and chromosomal aberrations in 5-year-old children. Cancer Epidemiol Biomarkers Prev. 2012;21(7):1191-202

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Genetics

Carmi S, Hui KY, Kochav E, Liu X, Xue J, Grady F, Guha S, Upadhyay K, Ben-Avraham D, Mukherjee S, Bowen BM, Thomas T, Vijai J, Cruts M, Froyen G, Lambrechts D, Plaisance S, Van Broeckhoven C, Van Damme P, Van Marck H, Barzilai N, Darvasi A, Offit K, Bressman S, Ozelius LJ, Peter I, Cho JH, Ostrer H, Atzmon G, Clark LN, Lencz T, Pe'er I.  Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.  Nature Communications. 2014 Sept 9; 5:4835. doi: 10.1038/ncomms5835.

Re, D.B., Le Verche, V., Yu, C., Amorosso, M.W., Ikiz, B., Hoffmann,L., Koolen, M., Nagata,T., Papadimitriou, D., Politi,K., Phani,S., Nagy, P.L., Mitsumoto,H., Kariya, S., Wichterle,H., Henderson,C.E., Przedborski, S. Necroptosis drives neurodegeneration in both familial and sporadic models of ALS. Neuron. 2014 Mar 5; 81 (5):1001-8. Epub 2014 Feb 6. PMID: 24508385

Kallgren, S.P., Andrews, S., Tadeo, X., Hou, H., Moresco, J.J., Tu, P.G., X Yates III, J.R., Nagy, P.L., Jia, S. The Proper Splicing of RNAi Factors Is Critical for Pericentric Heterochromatin Assembly in Fission Yeast. PLOS Genetics. 10 (5). 2014. e1004334

Lee J.H., Kahn A., Cheng R., Reitz C., Vardarajan B., Lantigua R., Medrano M., Jiménez-Velázquez I.Z., Williamson J., Nagy P.L., Mayeux R. Disease-related mutations among Caribbean Hispanics with familial dementia. Molecular Genetics and Genomic Medicine. E-pub 2014 Jun 4; DOI: 10.1002/mgg3.85

Baleriola, J., Walker, C.A., Jean, Y.Y., Crary, J.F., Troy, C.M., Nagy, P.L., Hengst, U. Axonally synthesized ATF4 transmits a neurodegenerative signal across brain regions. 2014. Cell. In Press.

Wang, J., Tadeo, X., Hou, H., Andrews, S., Moresco, J., Yates, J.R. Nagy, P.L., Jia, S. Rts1 regulates splicing of shelterin components to control telomeric heterochromatin assembly and telomere length. 2014. NAR. In Press

Zernent, J., Xie, Y.,Ayuso, C., RiveiroAlvarez, R., Lopez-Martinez, MA., Simonelli, F., Testa, F.,Gorin, MB., Strom, SP., Bertelsen, M., Rosenberg, T., Boone, PM., Yuan, B., Ayyagari, R., Nagy, P.L., Tsang, SH., Gouras, P., Collison, FT., Lupski, JR., Fishman, GA, Allikmets, R. Analysis of the ABCA4 genomic locus in Stargardt disease. 2014. Human Molecular Genetics. In Press.

Goldman J., Quinzii, C., Broadbent, JD., Waters,C. Mitsumoto, M.,Brannagan, T., Cosentino, S., Huey, E., Nagy, P.L., Kuo, SH. Multiple System Atrophy and Amyotrophic Lateral Sclerosis in a Family with Hexanucleotide Repeat Expansions in C9orf72. JAMA Neurol. 2014 Apr 14. doi: 10.1001/jamaneurol.2013.5762. [Epub ahead of print] PMID: 24733620

Huey, E., Nagy P.L., Rodriguez-Murillo, L., Manochehri, M., Goldman, J., Lieberman, J., Karayiorgou, M., Mayeux, R. C9ORF72 repeat expansions not detected in a group of patients with Schizophrenia. Neurobiology of Aging 34(4):1309, 2013; Epub 2012 Oct 1

Paliwal, A., Temkin, A.M., Kerkel, K., Yale, A., Yotova, I., Drost, N., Lax,S., Nhan-Chang, C.L., Powell, C., Borczuk, A., Aviv, A., Wapner, R., Chen, X., Nagy, P.L., Schork, N., Do,C., Torkamani, A., Tycko, B., Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation. Plos Genetics. 9(8): e1003622. doi:10.1371/journal.pgen.1003622, 2013.

Macera MJ, Sobrino A, Levy B, Jobanputra V, Aggarwal V, Mills A, Esteves C, Hanscom C, Pereira S, Pillalamarri V, Ordulu Z, Morton C, Talkowski M, Warburton DPrenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.
Prenat Diagn. 2014 Jul 9. doi: 10.1002/pd.4456. [Epub ahead of print] No abstract available. PMID:25043231

DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM.  Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.  PLoS Genet. 2014 May 15;10(5):e1004333. doi: 10.1371/journal.pgen.1004333. eCollection 2014 May.  PMID: 24831815

Carmi S, Hui KY, Kovach E, Liu X, Xue J, Grady F, Guha S, Upadhyay K, Ben-Avraham D, Mukherjee S, Bowen MB, Vijai J, Barzilai N, Darvasi A, Offit K, Ozelius LJ, Peter I, Cho JH, Ostrer H, Atzmon G, Clark LN, Lencz T, Pe’er I. Whole Genome Sequencing of an Ashkenazi Jewish Reference panel support population-targeted personal genomics and illuminates Jewish and European origins. In press Nature Communications.

Vacic V, Ozelius LJ, Clark LN, Bar-Shira A, Gana-Weisz M, Gurevich T, Gusev A, Kedmi M, Kenny EE, Liu X, Santana HM, Mirelman A, Raymond D, Saunders-Pullman R, Desnick RJ, Burns ER, Ostrer H, Hakonarson H, Bergman A, Atzmon G, Barzilai N, Darvasi A, Peter I, Guha Saurav, Lencz T, Giladi N, Marder K, Pe’er I, Bressman SB, Orr-Urtreger A. Genome-wide mapping of identical-by-descent segments in an Ashkenazi Parkinson disease cohort identifies associated haplotypes. Hum Mol Genet. 2014; 23:4693-702.

Gupte M, Alcalay RN, Mejia-Santana H, Raymond D, Saunders-Pullman R, Roos E, Orbe-Reily M, Tang MX, Mirelman A, Ozelius L, Orr-Urtreger A, Clark L, Giladi N, Bressman S, Marder K. Interest in Genetic Testing in Ashkenazi Jewish Parkinson’s Disease Patients and Their Unaffected Relatives. J. Genet. Couns. 2014 Aug17 [Epub ahead of print].

Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D.  The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.  Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25.  PMID:23979609

Liu X, Cheng R, Ye X, Verbitsky M, Kisselev S, Mejia-Santana H, Louis E, Cote L, Andrews H, Waters C, Ford B, Fahn S, Marder K, Lee J, Clark L. Increased Rate of Rare Genic Copy Number Variants in Parkinson’s Disease Among Ashkenazi Jews. Mol Genet Genomic Med. 2013. 1: 142-154.

DeStefano GM, Fantauzzo KA, Petukhova L, Kurban M, Tadin-Strapps M, Levy B, Warburton D, Cirulli ET, Han Y, Sun X, Shen Y, Shirazi M, Jobanputra V, Cepeda-Valdes R, Cesar Salas-Alanis J, Christiano AM. Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proc Natl Acad Sci U S A. 2013 May 7;110(19):7790-5.

Kenny EE, Pe'er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones MR, Marder K, McGovern DP, Mulle J, Orr-Urtreger A, Proctor DD, Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH, Peter I. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. PLoS Genet. 2012;8(3):e1002559.

Dialynas G, Flannery K.M., Zirbel L.N., Nagy P.L., Mathews K.D., Moore S.A., Wallrath L.L. LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle. Hum Mol Genet. 2012;21:1544-1556. 

Ewalt M, Nandula S, Phillips A, Alobeid B, Murty VV, Mansukhani MM, Bhagat G. Genomic aberrations affecting the outcome of immunodeficiency-related diffusefasudil, a ROCK inhibitor, attenuates disease in lupus-prone NZB/W F1 female mice. Lupus. 21:656-61, 2012.

Gonda TA, Glick MP, Sethi A, Poneros JM, Palmas W, Iqbal S, Gonzalez S, Nandula SV, Emond JC, Brown RS, Murty VV, Stevens PD. Polysomy and p16 deletion by fluorescence in situ hybridization in the diagnosis of indeterminate biliary strictures. Gastrointest Endosc. 75: 74-79, 2012

Jobanputra V, Levy B, Kinney A, Brown S, Shirazi M, Yu C, Kline J, Warburton D. Copy Number Changes on the X Chromosome in Women with and without Highly Skewed X-Chromosome Inactivation. Cytogenet Genome Res. 2012;136(4):264-9.

Mukherjee D, Cohen B, Bovino ME, Desai S, Whittier S and Larson E. Survival of influenzavirus on hands and fomites in community and laboratory settings. Amer J Inf Control. 1: 1-5, 2012

Neu N, Nelson J, Ranson E, Whittier S, Shaw A and Cohall A. Urine and Extragenital Gonococcal and Chlamydia Infections in HIV Positive Young Men Who Have Sex with Men (YMSM): Enhanced Detection of Rectal Chlamydia when Screening with Nucleic Acid Amplified Tests versus Cultures. J of Men‘s Health 9:89-93, 2012

Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, Flogelova H, Weng PL, Kacak N, Giberti S, Gigante M, Arapovic A, Drnasin K, Caridi G, Curioni S, Allegri F, Ammenti A, Ferretti S, Goj V, Bernardo L, Jobanputra V, Chung WK, Lifton RP, Sanders S, State M, Clark LN, Saraga M, Padmanabhan S, Dominiczak AF, Foroud T, Gesualdo L, Gucev Z, Allegri L, Latos-Bielenska A, Cusi D, Scolari F, Tasic V, Hakonarson H, Ghiggeri GM, Gharavi AG. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012 Dec 7;91(6):987-97. 

Shanske AL, Goodrich JT, Ala-Kokko L, Levy B. A new syndromic craniosynostosis with involvement of the spine, long bones, pelvis, and digits: molecular genetic and array analysis. Clin Dysmorphol. 2012 Apr;21(2):69-73.

Treff NR, Campos J, Tao X, Levy B, Ferry KM, Scott RT Jr. Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder. Fertil Steril. 2012 Aug 21.

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Maternal Fetal Medicine

Levy B, Sigurjonsson S, Pettersen B, Maisenbacher MK, Hall MP, Demko Z, Lathi RB, Tao R, Aggarwal V, Rabinowitz M. Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis. Obstet Gynecol. 2014 Aug;124(2 Pt 1):202-9. doi: 10.1097/AOG.0000000000000325.

Brown L, Mount S, Reddy R, Slim R, Wong C, Jobanputra V, Clifford P, Merrill L, Brown S. Recurrent pregnancy loss in a woman with NLRP7 mutation: not all molar pregnancies can be easily classified as either "partial" or "complete" hydatidiform moles. Int J Gynecol Pathol. 2013 Jul;32(4):399-405. 

Jobanputra V, Burke A, Kwame AY, Shanmugham A, Shirazi M, Brown S, Warburton PE, Levy B, Warburton D. Duplication of the ZIC2 gene is not associated with holoprosencephaly.  Am J Med Genet. 2012;158A:103–108.

Jobanputra V, Wilson A, Shirazi M, Feenstra H, Levy B, Anyane-Yeboa K, Warburton D. Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies. Am J Med Genet A. 2013 Sep;161(9):2393-5.

Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, Pletcher BA, Ala-Kokko L, Baker S, Frederick B, Hirschhorn K, Warburton P, Shanske A. Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? Genet Med. 2012. doi:10.1038/gim.2012.54.

Nimmakayalu, M., Noble, N, Willing,M., Copeland,.S, Sheffield,V., Nagy P.L., Wassink, T., Patil, S., Shchelochkov, OA. Delineation of Distinct Regions within 2q24 Associated with Seizures, Growth Retardation, Microcephaly, Eye Anomalies, and Neurobehavioral Problems. Hum Mol Genet. 2012;158A:11,2767-2774.

Reddy U, Page G, Saade G, Silver R, Thorsten V, Parker C, Pinar H, Willinger M, Stoll B, Heim-Hall J, Varner M, Goldenberg R, Bukowski R, Wapner R, Drews-Botsch C, O‘Brien B, Dudley D, Levy B. Genetic abnormalities in stillbirth: comparison of karyotype and microarray testing. NEJM. Dec 6, 2012. 367;23:2185-2193.

Shanske AL, Goodrich JT, Ala-Kokko L, Baker S, Frederick B, Levy B. Germline mosaicism in Shprintzen-Goldberg syndrome. Am J Med Genet A. 2012 May 25. do: 10.1002/ajmg.a.35388.

Shanske S, Naini A, Chmait RH, Akman HO, Mansukhani M, Lu J, Hirano M, DiMauro S. Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy. J Child Neurol. 2013 Feb;28(2):264-8.

Top K, Whittier S, Saiman L, Ratner A. Predictors of Staphylococcus aureus Rectovaginal Colonization in Pregnant Women and Risk for Maternal and Neonatal Infections. J Ped Dis Infect Dis Soc 1:7-15, 2012

Wapner R, Martin C, Levy B, Ballif B, Eng C, Zachary J, Savage M, Platt L, Saltzman D, Grobman W, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal V, Bunke B, Nahum O, Patel A, Lamb A, Thom E, Beaudet A, Ledbetter D, Shaffer L, Jackson L. A Prospective Blinded Comparison of Chromosomal Microarray with Conventional Karyotyping for Prenatal Diagnosis. NEJM. Dec 6, 2012. 367;23:2175-2184.

Xing L, Salas M, Zhang H, Gittler J, Ludwig T, Lin CS, Murty VV, Silverman W, Arancio O, Tycko B. Creation and characterization of BAC-transgenic mice with physiological overexpression of epitope-tagged RCAN1 (DSCR1). Mamm Genome. 2012 Oct 25.

Zimmermann B, Hill M, Gemelos G, Demko Z, Banjevic M, Baner J, Ryan A, Sigurjonsson S, Chopra N, Dodd M, Levy B, Rabinowitz M. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn. 2012 Oct 30:1-9. doi: 10.1002/pd.3993. [Epub ahead of print].

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Neurogenetics & Mitochondrial Diseases

Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); The Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Large-scale meta analysis of genome-wide association data in Parkinson’s disease reveals 28 distinct risk loci. Nature Genetics. 2014. Doi:10.1038/ng.3043.

Louis ED, Hernandez N, Ionita-Laza I, Ottman R, Clark LN. Essential tremor” in a Charcot-Marie-Tooth type 2c kindred does not segregate with the TRPV4 R269H Mutation. Case Reports Neurol. 2014; 6:1-6.

Alcalay RN, Caccappolo E, Mejia-Santana H, Tang M-, Rosado L, Orbe Reilly M, Ruiz D, Ross B, Verbitsky M, Kisselev S, Louis E, Comella C, Colcher A, Jennings D, Nance M, Bressman S, Scott WK, Tanner C, Mickel S, Andrews H, Waters C, Fahn S, Cote L, Frucht S, Ford B, Rezak M, Novak K, Friedman JH, Pfeiffer R, Marsh L, Hiner B, Siderowf A, Payami H, Molho E, Factor S, Ottman R, Clark LN, Marder K. Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study. Neurology. 2012 May 1;78(18):1434-40.

Cocchi MN, Giberson B, Berg K, Salciccioli JD, Naini A, Buettner C, Akuthota P, Gautam S, Donnino MW. Coenzyme Q10 levels are low and associated with increased mortality in post-cardiac arrest patients. Resuscitation. 2012 Aug;83(8):991-5.

Cooper O, Seo H, Andrabi S, Guardia-Laguarta C, Graziotto J, Sundberg M, McLean JR, Carrillo-Reid L, Xie Z, Osborn T, Hargus G, Deleidi M, Lawson T, Bogetofte H, Perez-Torres E, Clark L, Moskowitz C, Mazzulli J, Chen L, Volpicelli-Daley L, Romero N, Jiang H, Uitti RJ, Huang Z, Opala G, Scarffe LA, Dawson VL, Klein C, Feng J, Ross OA, Trojanowski JQ, Lee VM, Marder K, Surmeier DJ, Wszolek ZK, Przedborski S, Krainc D, Dawson TM, Isacson O. Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease. Sci Transl Med. 2012 Jul 4;4(141):141ra90.

Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M. Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol. 2012 Aug;69(8):978-83.

Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, Dimauro S, Mootha VK, Hirano M. MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. Arch Neurol. 2012 Dec;69(12):1648-51.

Huey, E., Nagy P.L., Rodriguez-Murillo, L., Manochehri, M., Goldman, J., Lieberman, J., Karayiorgou, M., Mayeux, R. C9ORF72 repeat expansions not detected in a group of patients with Schizophrenia. Neurobiology of Aging. Epub 2012 Oct 1.

Lamarca NH, Golden L, John RM, Naini A, De Vivo DC, Sproule DM. Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation? J Child Neurol. 2012 Oct 3. [Epub ahead of print] PubMed PMID: 23034979.

Narayan SB, Master SR, Sireci AN, Bierl C, Stanley PE, Li C, Stanley CA, Bennett MJ. Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways. PLoS One. 7(4):e35048, 2012.

Pankratz N, Beecham GW, DeStefano AL, Dawson TM, Doheny KF, Factor SA, Hamza TH, Hung AY, Hyman BT, Ivinson AJ, Krainc D, Latourelle JC, Clark LN, Marder K, Martin ER, Mayeux R, Ross OA, Scherzer CR, Simon DK, Tanner C, Vance JM, Wszolek ZK, Zabetian CP, Myers RH, Payami H, Scott WK, Foroud T; PD GWAS Consortium. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol. 2012 Mar;71(3):370-84.

Poulopoulos M, Cortes E, Vonsattel JP, Fahn S, Waters C, Cote LJ, Moskowitz C, Honig LS, Clark LN, Marder KS, Alcalay RN. Clinical and pathological characteristics of LRRK2 G2019S patients with PD.  J Mol Neurosci. 2012 May;47(1):139-43.

Qiu C, Kumar S, Guo J, Lu J, Shi S, Kalachikov SM, Russo JJ, Naini AB, Schon EA, Ju J. Mitochondrial single nucleotide polymorphism genotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry using cleavable biotinylated dideoxynucleotides. Anal Biochem. 2012 Aug 15;427(2):202-10.

Quinzii CM, Tadesse S, Naini A, Hirano M. Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts. PLoS One. 2012;7(2):e30606.

Santa-Maria I, Haggiagi A, Liu X, Wasserscheid J, Nelson PT, Dewar K, Clark LN, Crary JF. The MAPT H1 haplotype is associated with tangle-predominant dementia. Acta Neuropathol. 2012; 124(5):693-704.

Wray S, Self M; NINDS Parkinson's Disease iPSC Consortium; NINDS Huntington's Disease iPSC Consortium; NINDS ALS iPSC Consortium, Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, Marti-Masso JF, Preza E, Barker S, Sutherland M, Corriveau RA, D'Andrea M, Schapira AH, Uitti RJ, Guttman M, Opala G, Jasinska-Myga B, Puschmann A, Nilsson C, Espay AJ, Slawek J, Gutmann L, Boeve BF, Boylan K, Stoessl AJ, Ross OA, Maragakis NJ, Van Gerpen J, Gerstenhaber M, Gwinn K, Dawson TM, Isacson O, Marder KS, Clark LN, Przedborski SE, Finkbeiner S, Rothstein JD, Wszolek ZK, Rossor MN, Hardy J. Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS One. 2012;7(8):e43099.

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