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    Robert Nussbaum, MD

    Address513 Parnassus Ave
    San Francisco CA 94143
    Phone415-476-3200

       Biography 
       Education and Training
      Harvard UniversityM.D.School of Medicine1975
       Awards and Honors
      Gertrud Reemtsma Foundation/Max Planck Society2011Klaus Joachim Zülch-Prize for Neurological Research
      American College of Physicians2010Elected Fellow
      UCSF2009Excellence In Teaching Award
      Lowe Syndrome Association2008Legacy Award
      NHGRI/NIH2004Distinguished Service Award
      Institute of Medicine2004Elected Member
      Medical College of Virginia2003Forbes Lectureship
      NIH1999G. Burroughs Mider Lectureship

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       Bibliographic 
       Publications
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z, Oliva E, Jozwiak S, Nussbaum RL, Feldman AS, Paul E, Thiele EA, Yu JJ, Henske EP, Kwiatkowski DJ, Young RH, Wu CL. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol. 2014 Jul; 38(7):895-909.
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      2. Escobar VD, Kuo YM, Orrison BM, Giasson BI, Nussbaum RL. Transgenic mice expressing S129 phosphorylation mutations in a-synuclein. Neurosci Lett. 2014 Mar 20; 563:96-100.
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      3. Chen H, Burton EA, Ross GW, Huang X, Savica R, Abbott RD, Ascherio A, Caviness JN, Gao X, Gray KA, Hong JS, Kamel F, Jennings D, Kirshner A, Lawler C, Liu R, Miller GW, Nussbaum R, Peddada SD, Rick AC, Ritz B, Siderowf AD, Tanner CM, Tröster AI, Zhang J. Research on the premotor symptoms of Parkinson's disease: clinical and etiological implications. Environ Health Perspect. 2013 Nov-Dec; 121(11-12):1245-52.
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      4. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013 Jul; 15(7):565-74.
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      5. Calloe K, Refaat MM, Grubb S, Wojciak J, Campagna J, Thomsen NM, Nussbaum RL, Scheinman MM, Schmitt N. Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome. Circ Arrhythm Electrophysiol. 2013 Feb; 6(1):177-84.
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      6. Fanara P, Wong PY, Husted KH, Liu S, Liu VM, Kohlstaedt LA, Riiff T, Protasio JC, Boban D, Killion S, Killian M, Epling L, Sinclair E, Peterson J, Price RW, Cabin DE, Nussbaum RL, Brühmann J, Brandt R, Christine CW, Aminoff MJ, Hellerstein MK. Cerebrospinal fluid-based kinetic biomarkers of axonal transport in monitoring neurodegeneration. J Clin Invest. 2012 Sep 4; 122(9):3159-69.
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      7. Mollenhauer B, Trautmann E, Otte B, Ng J, Spreer A, Lange P, Sixel-Döring F, Hakimi M, Vonsattel JP, Nussbaum R, Trenkwalder C, Schlossmacher MG. a-Synuclein in human cerebrospinal fluid is principally derived from neurons of the central nervous system. J Neural Transm. 2012 Jul; 119(7):739-46.
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      8. Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10.
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      9. Nussbaum RL. Critique of "Evidence-Based Surgical Hypothesis: The case against BRCA1 and 2 testing". Surgery. 2012 Apr; 151(4):634-7.
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      10. Bolton KL, Chenevix-Trench G, Goh C, Sadetzki S, Ramus SJ, Karlan BY, Lambrechts D, Despierre E, Barrowdale D, McGuffog L, Healey S, Easton DF, Sinilnikova O, Benítez J, García MJ, Neuhausen S, Gail MH, Hartge P, Peock S, Frost D, Evans DG, Eeles R, Godwin AK, Daly MB, Kwong A, Ma ES, Lázaro C, Blanco I, Montagna M, D'Andrea E, Nicoletto MO, Johnatty SE, Kjær SK, Jensen A, Høgdall E, Goode EL, Fridley BL, Loud JT, Greene MH, Mai PL, Chetrit A, Lubin F, Hirsh-Yechezkel G, Glendon G, Andrulis IL, Toland AE, Senter L, Gore ME, Gourley C, Michie CO, Song H, Tyrer J, Whittemore AS, McGuire V, Sieh W, Kristoffersson U, Olsson H, Borg Å, Levine DA, Steele L, Beattie MS, Chan S, Nussbaum RL, Moysich KB, Gross J, Cass I, Walsh C, Li AJ, Leuchter R, Gordon O, Garcia-Closas M, Gayther SA, Chanock SJ, Antoniou AC, Pharoah PD. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA. 2012 Jan 25; 307(4):382-90.
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      11. Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M, Mulligan AM, Couch FJ, Engel C, McGuffog L, Healey S, Sinilnikova OM, Southey MC, Terry MB, Goldgar D, O'Malley F, John EM, Janavicius R, Tihomirova L, Hansen TV, Nielsen FC, Osorio A, Stavropoulou A, Benítez J, Manoukian S, Peissel B, Barile M, Volorio S, Pasini B, Dolcetti R, Putignano AL, Ottini L, Radice P, Hamann U, Rashid MU, Hogervorst FB, Kriege M, van der Luijt RB. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev. 2012 Jan; 21(1):134-47.
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      12. Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG, Rame JE. Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. Am J Med Genet A. 2011 Sep; 155A(9):2229-35.
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      13. Markello TC, St Hilaire C, Ziegler SG, Nussbaum RL, Boehm M, Gahl WA. Reply to Professor Lefthériotis et al. Mol Genet Metab. 2011 Jul; 103(3):305.
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      14. Nakamura K, Nemani VM, Azarbal F, Skibinski G, Levy JM, Egami K, Munishkina L, Zhang J, Gardner B, Wakabayashi J, Sesaki H, Cheng Y, Finkbeiner S, Nussbaum RL, Masliah E, Edwards RH. Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein. J Biol Chem. 2011 Jun 10; 286(23):20710-26.
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      15. St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. NT5E mutations and arterial calcifications. N Engl J Med. 2011 Feb 3; 364(5):432-42.
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      16. Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA. Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab. 2011 May; 103(1):44-50.
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      17. Bale S, Devisscher M, Van Criekinge W, Rehm HL, Decouttere F, Nussbaum R, Dunnen JT, Willems P. MutaDATABASE: a centralized and standardized DNA variation database. Nat Biotechnol. 2011 Feb; 29(2):117-8.
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      18. Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL. Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. J Am Soc Nephrol. 2011 Mar; 22(3):443-8.
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      19. Bothwell SP, Farber LW, Hoagland A, Nussbaum RL. Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome. Mamm Genome. 2010 Oct; 21(9-10):458-66.
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      20. Sung RK, Ursell PC, Rame JE, Bailey H, Caleshu C, Nussbaum RL, Scheinman MM. QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy. Pacing Clin Electrophysiol. 2011 Dec; 34(12):e105-8.
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      21. Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, Garber JE, Goorha S, Gruber SB, Hampel H, Kaklamani V, Kohlmann W, Kurian A, Litton J, Marcom PK, Nussbaum R, Offit K, Pal T, Pasche B, Pilarski R, Reiser G, Shannon KM, Smith JR, Swisher E, Weitzel JN. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw. 2010 May; 8(5):562-94.
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      22. Corpe CP, Tu H, Eck P, Wang J, Faulhaber-Walter R, Schnermann J, Margolis S, Padayatty S, Sun H, Wang Y, Nussbaum RL, Espey MG, Levine M. Vitamin C transporter Slc23a1 links renal reabsorption, vitamin C tissue accumulation, and perinatal survival in mice. J Clin Invest. 2010 Apr; 120(4):1069-83.
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      23. Bernard DJ, Nussbaum RL. X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice. Mamm Genome. 2010 Apr; 21(3-4):186-94.
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      24. Kuo YM, Li Z, Jiao Y, Gaborit N, Pani AK, Orrison BM, Bruneau BG, Giasson BI, Smeyne RJ, Gershon MD, Nussbaum RL. Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes. Hum Mol Genet. 2010 May 1; 19(9):1633-50.
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      25. Ikediobi ON, Shin J, Nussbaum RL, Phillips KA. Addressing the challenges of the clinical application of pharmacogenetic testing. Clin Pharmacol Ther. 2009 Jul; 86(1):28-31.
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      26. Sotiriou S, Gibney G, Baxevanis AD, Nussbaum RL. A single nucleotide polymorphism in the 3'UTR of the SNCA gene encoding alpha-synuclein is a new potential susceptibility locus for Parkinson disease. Neurosci Lett. 2009 Sep 18; 461(2):196-201.
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      27. Cronin KD, Ge D, Manninger P, Linnertz C, Rossoshek A, Orrison BM, Bernard DJ, El-Agnaf OM, Schlossmacher MG, Nussbaum RL, Chiba-Falek O. Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain. Hum Mol Genet. 2009 Sep 1; 18(17):3274-85.
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      28. Gispert S, Ricciardi F, Kurz A, Azizov M, Hoepken HH, Becker D, Voos W, Leuner K, Müller WE, Kudin AP, Kunz WS, Zimmermann A, Roeper J, Wenzel D, Jendrach M, García-Arencíbia M, Fernández-Ruiz J, Huber L, Rohrer H, Barrera M, Reichert AS, Rüb U, Chen A, Nussbaum RL, Auburger G. Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration. PLoS One. 2009; 4(6):e5777.
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      29. Kangelaris KN, Bent S, Nussbaum RL, Garcia DA, Tice JA. Genetic testing before anticoagulation? A systematic review of pharmacogenetic dosing of warfarin. J Gen Intern Med. 2009 May; 24(5):656-64.
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      30. Suchy SF, Cronin JC, Nussbaum RL. Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1. J Inherit Metab Dis. 2009 Apr; 32(2):280-8.
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      31. McFarland MA, Ellis CE, Markey SP, Nussbaum RL. Proteomics analysis identifies phosphorylation-dependent alpha-synuclein protein interactions. Mol Cell Proteomics. 2008 Nov; 7(11):2123-37.
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      32. Cole NB, Dieuliis D, Leo P, Mitchell DC, Nussbaum RL. Mitochondrial translocation of alpha-synuclein is promoted by intracellular acidification. Exp Cell Res. 2008 Jun 10; 314(10):2076-89.
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      33. Caulfield T, McGuire AL, Cho M, Buchanan JA, Burgess MM, Danilczyk U, Diaz CM, Fryer-Edwards K, Green SK, Hodosh MA, Juengst ET, Kaye J, Kedes L, Knoppers BM, Lemmens T, Meslin EM, Murphy J, Nussbaum RL, Otlowski M, Pullman D, Ray PN, Sugarman J, Timmons M. Research ethics recommendations for whole-genome research: consensus statement. PLoS Biol. 2008 Mar 25; 6(3):e73.
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      34. Flockhart DA, O'Kane D, Williams MS, Watson MS, Flockhart DA, Gage B, Gandolfi R, King R, Lyon E, Nussbaum R, O'Kane D, Schulman K, Veenstra D, Williams MS, Watson MS. Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin. Genet Med. 2008 Feb; 10(2):139-50.
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      35. Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neurodegener Dis. 2007; 4(5):386-91.
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      36. Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K. Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene. 2007 Jun 15; 395(1-2):125-34.
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      37. Lippa CF, Duda JE, Grossman M, Hurtig HI, Aarsland D, Boeve BF, Brooks DJ, Dickson DW, Dubois B, Emre M, Fahn S, Farmer JM, Galasko D, Galvin JE, Goetz CG, Growdon JH, Gwinn-Hardy KA, Hardy J, Heutink P, Iwatsubo T, Kosaka K, Lee VM, Leverenz JB, Masliah E, McKeith IG, Nussbaum RL, Olanow CW, Ravina BM, Singleton AB, Tanner CM, Trojanowski JQ, Wszolek ZK. DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology. 2007 Mar 13; 68(11):812-9.
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      38. Loovers HM, Kortholt A, de Groote H, Whitty L, Nussbaum RL, van Haastert PJ. Regulation of phagocytosis in Dictyostelium by the inositol 5-phosphatase OCRL homolog Dd5P4. Traffic. 2007 May; 8(5):618-28.
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      39. Hoepken HH, Gispert S, Morales B, Wingerter O, Del Turco D, Mülsch A, Nussbaum RL, Müller K, Dröse S, Brandt U, Deller T, Wirth B, Kudin AP, Kunz WS, Auburger G. Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. Neurobiol Dis. 2007 Feb; 25(2):401-11.
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      40. Chiba-Falek O, Lopez GJ, Nussbaum RL. Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients. Mov Disord. 2006 Oct; 21(10):1703-8.
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      41. Lichter-Konecki U, Farber LW, Cronin JS, Suchy SF, Nussbaum RL. The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function. Mol Genet Metab. 2006 Sep-Oct; 89(1-2):121-8.
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      42. Golovko MY, Rosenberger TA, Faergeman NJ, Feddersen S, Cole NB, Pribill I, Berger J, Nussbaum RL, Murphy EJ. Acyl-CoA synthetase activity links wild-type but not mutant alpha-synuclein to brain arachidonate metabolism. Biochemistry. 2006 Jun 6; 45(22):6956-66.
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      43. Ellis CE, Murphy EJ, Mitchell DC, Golovko MY, Scaglia F, Barceló-Coblijn GC, Nussbaum RL. Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein. Mol Cell Biol. 2005 Nov; 25(22):10190-201.
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      44. Nussbaum RL. Mining yeast in silico unearths a golden nugget for mitochondrial biology. J Clin Invest. 2005 Oct; 115(10):2689-91.
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      45. Castagnet PI, Golovko MY, Barceló-Coblijn GC, Nussbaum RL, Murphy EJ. Fatty acid incorporation is decreased in astrocytes cultured from alpha-synuclein gene-ablated mice. J Neurochem. 2005 Aug; 94(3):839-49.
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      46. Golovko MY, Faergeman NJ, Cole NB, Castagnet PI, Nussbaum RL, Murphy EJ. Alpha-synuclein gene deletion decreases brain palmitate uptake and alters the palmitate metabolism in the absence of alpha-synuclein palmitate binding. Biochemistry. 2005 Jun 14; 44(23):8251-9.
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      47. Meyer-Lindenberg A, Kohn PD, Kolachana B, Kippenhan S, McInerney-Leo A, Nussbaum R, Weinberger DR, Berman KF. Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype. Nat Neurosci. 2005 May; 8(5):594-6.
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      48. Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum R, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J. Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neurosci Lett. 2005 Jul 1-8; 382(1-2):191-4.
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      49. Hernandez DG, Paisán-Ruíz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schäffer AA, Lopez GJ, Nussbaum RL, Singleton AB. Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Ann Neurol. 2005 Mar; 57(3):453-6.
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      50. Lelievre E, Bourbon PM, Duan LJ, Nussbaum RL, Fong GH. Deficiency in the p110alpha subunit of PI3K results in diminished Tie2 expression and Tie2(-/-)-like vascular defects in mice. Blood. 2005 May 15; 105(10):3935-8.
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      51. Nussbaum RL. What is special about the "human" in "human genetics"? Am J Hum Genet. 2005 Feb; 76(2):198-202.
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      52. Chiba-Falek O, Kowalak JA, Smulson ME, Nussbaum RL. Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene. Am J Hum Genet. 2005 Mar; 76(3):478-92.
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      53. Cabin DE, Gispert-Sanchez S, Murphy D, Auburger G, Myers RR, Nussbaum RL. Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background. Neurobiol Aging. 2005 Jan; 26(1):25-35.
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      54. Hoopes RR, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ. Dent Disease with mutations in OCRL1. Am J Hum Genet. 2005 Feb; 76(2):260-7.
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      55. Ulmer TS, Bax A, Cole NB, Nussbaum RL. Structure and dynamics of micelle-bound human alpha-synuclein. J Biol Chem. 2005 Mar 11; 280(10):9595-603.
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      56. Cole NB, Murphy DD, Lebowitz J, Di Noto L, Levine RL, Nussbaum RL. Metal-catalyzed oxidation of alpha-synuclein: helping to define the relationship between oligomers, protofibrils, and filaments. J Biol Chem. 2005 Mar 11; 280(10):9678-90.
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      57. Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet. 2004 Dec; 41(12):937-40.
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      58. Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol. 2004 Dec; 61(12):1898-904.
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      59. Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O. Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. Neurosci Lett. 2005 Feb 21; 374(3):189-91.
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      60. Schmid AC, Wise HM, Mitchell CA, Nussbaum R, Woscholski R. Type II phosphoinositide 5-phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation. FEBS Lett. 2004 Oct 8; 576(1-2):9-13.
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      61. Herrick EK, Nussbaum R, Holtzman NA, Wissow L. Asking fathers: a study of psychosocial adaptation. Haemophilia. 2004 Sep; 10(5):582-9.
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      62. Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB. SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology. 2004 Aug 10; 63(3):554-6.
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      63. Gamm JL, Nussbaum RL, Biesecker BB. Genetics and alcoholism among at-risk relatives I: perceptions of cause, risk, and control. Am J Med Genet A. 2004 Jul 15; 128A(2):144-50.
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      64. Gamm JL, Nussbaum RL, Bowles Biesecker B. Genetics and alcoholism among at-risk relatives II: interest and concerns about hypothetical genetic testing for alcoholism risk. Am J Med Genet A. 2004 Jul 15; 128A(2):151-5.
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      65. McInerney-Leo A, Gwinn-Hardy K, Nussbaum RL. Prevalence of Parkinson's disease in populations of African ancestry: a review. J Natl Med Assoc. 2004 Jul; 96(7):974-9.
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      66. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science. 2004 May 21; 304(5674):1158-60.
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      67. Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. alpha-Synuclein locus triplication causes Parkinson's disease. Science. 2003 Oct 31; 302(5646):841.
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      68. Gispert S, Del Turco D, Garrett L, Chen A, Bernard DJ, Hamm-Clement J, Korf HW, Deller T, Braak H, Auburger G, Nussbaum RL. Transgenic mice expressing mutant A53T human alpha-synuclein show neuronal dysfunction in the absence of aggregate formation. Mol Cell Neurosci. 2003 Oct; 24(2):419-29.
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      69. Chiba-Falek O, Touchman JW, Nussbaum RL. Functional analysis of intra-allelic variation at NACP-Rep1 in the alpha-synuclein gene. Hum Genet. 2003 Oct; 113(5):426-31.
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      70. Bornstein SR, Yoshida-Hiroi M, Sotiriou S, Levine M, Hartwig HG, Nussbaum RL, Eisenhofer G. Impaired adrenal catecholamine system function in mice with deficiency of the ascorbic acid transporter (SVCT2). FASEB J. 2003 Oct; 17(13):1928-30.
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      71. Wenk MR, Lucast L, Di Paolo G, Romanelli AJ, Suchy SF, Nussbaum RL, Cline GW, Shulman GI, McMurray W, De Camilli P. Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry. Nat Biotechnol. 2003 Jul; 21(7):813-7.
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      72. Nussbaum RL, Ellis CE. Alzheimer's disease and Parkinson's disease. N Engl J Med. 2003 Apr 3; 348(14):1356-64.
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      73. Witmer PD, Doheny KF, Adams MK, Boehm CD, Dizon JS, Goldstein JL, Templeton TM, Wheaton AM, Dong PN, Pugh EW, Nussbaum RL, Hunter K, Kelmenson JA, Rowe LB, Brownstein MJ. The development of a highly informative mouse Simple Sequence Length Polymorphism (SSLP) marker set and construction of a mouse family tree using parsimony analysis. Genome Res. 2003 Mar; 13(3):485-91.
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      74. Brooks AI, Chattopadhyay S, Mitchison HM, Nussbaum RL, Pearce DA. Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease. Mol Genet Metab. 2003 Jan; 78(1):17-30.
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      75. Chiba-Falek O, Nussbaum RL. Regulation of alpha-synuclein expression: implications for Parkinson's disease. Cold Spring Harb Symp Quant Biol. 2003; 68:409-15.
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      76. Suchy SF, Nussbaum RL. The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization. Am J Hum Genet. 2002 Dec; 71(6):1420-7.
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      77. Cabin DE, Shimazu K, Murphy D, Cole NB, Gottschalk W, McIlwain KL, Orrison B, Chen A, Ellis CE, Paylor R, Lu B, Nussbaum RL. Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein. J Neurosci. 2002 Oct 15; 22(20):8797-807.
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      78. Hellsten E, Bernard DJ, Owens JW, Eckhaus M, Suchy SF, Nussbaum RL. Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase. Biol Reprod. 2002 May; 66(5):1522-30.
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      79. Sotiriou S, Gispert S, Cheng J, Wang Y, Chen A, Hoogstraten-Miller S, Miller GF, Kwon O, Levine M, Guttentag SH, Nussbaum RL. Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival. Nat Med. 2002 May; 8(5):514-7.
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      85. Chiba-Falek O, Nussbaum RL. Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Hum Mol Genet. 2001 Dec 15; 10(26):3101-9.
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      87. Socher G, Nussbaum R, Rissler K, Lankmayr E. Transesterification of fatty acid ethoxylates in supercritical methanol, then gas chromatography-mass spectrometric determination of the derived methyl esters, for identification of the initiators. Fresenius J Anal Chem. 2001 Oct; 371(3):369-75.
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      88. Greene ND, Lythgoe MF, Thomas DL, Nussbaum RL, Bernard DJ, Mitchison HM. High resolution MRI reveals global changes in brains of Cln3 mutant mice. Eur J Paediatr Neurol. 2001; 5 Suppl A:103-7.
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      89. Touchman JW, Dehejia A, Chiba-Falek O, Cabin DE, Schwartz JR, Orrison BM, Polymeropoulos MH, Nussbaum RL. Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element. Genome Res. 2001 Jan; 11(1):78-86.
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      90. Gispert S, Dutra A, Lieberman A, Friedlich D, Nussbaum RL. Cloning and genomic organization of the mouse gene slc23a1 encoding a vitamin C transporter. DNA Res. 2000 Dec 31; 7(6):339-45.
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      91. Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet. 2000 Dec 18; 95(5):461-6.
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      92. Ellis CE, Schwartzberg PL, Grider TL, Fink DW, Nussbaum RL. alpha-synuclein is phosphorylated by members of the Src family of protein-tyrosine kinases. J Biol Chem. 2001 Feb 9; 276(6):3879-84.
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      93. Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem. 2000 Feb; 48(2):179-90.
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      94. Nussbaum R, Auburger G. Neurodegeneration in the polyglutamine diseases: Act 1, Scene 1. Nat Neurosci. 2000 Feb; 3(2):103-4.
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      95. Thompson M, Nussbaum R. Asking women to see nurses or unfamiliar physicians as part of primary care redesign. Am J Manag Care. 2000 Feb; 6(2):187-99.
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      98. Bi L, Okabe I, Bernard DJ, Wynshaw-Boris A, Nussbaum RL. Proliferative defect and embryonic lethality in mice homozygous for a deletion in the p110alpha subunit of phosphoinositide 3-kinase. J Biol Chem. 1999 Apr 16; 274(16):10963-8.
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      99. Greene ND, Bernard DL, Taschner PE, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM. A murine model for juvenile NCL: gene targeting of mouse Cln3. Mol Genet Metab. 1999 Apr; 66(4):309-13.
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      100. Bascom RA, Srinivasan S, Nussbaum RL. Identification and characterization of golgin-84, a novel Golgi integral membrane protein with a cytoplasmic coiled-coil domain. J Biol Chem. 1999 Jan 29; 274(5):2953-62.
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      101. Lin T, Lewis RA, Nussbaum RL. Molecular confirmation of carriers for Lowe syndrome. Ophthalmology. 1999 Jan; 106(1):119-22.
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      102. Lavedan C, Buchholtz S, Auburger G, Albin RL, Athanassiadou A, Blancato J, Burguera JA, Ferrell RE, Kostic V, Leroy E, Leube B, Mota-Vieira L, Papapetropoulos T, Pericak-Vance MA, Pinkus J, Scott WK, Ulm G, Vasconcelos J, Vilchez JJ, Nussbaum RL, Polymeropoulos MH. Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease. DNA Res. 1998 Dec 31; 5(6):401-2.
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      103. Lavedan C, Leroy E, Torres R, Dehejia A, Dutra A, Buchholtz S, Nussbaum RL, Polymeropoulos MH. Genomic organization and expression of the human beta-synuclein gene (SNCB). Genomics. 1998 Nov 15; 54(1):173-5.
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      104. Suchy SF, Lin T, Horwitz JA, O'Brien WE, Nussbaum RL. First report of prenatal biochemical diagnosis of Lowe syndrome. Prenat Diagn. 1998 Nov; 18(11):1117-21.
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      105. Mezey E, Dehejia AM, Harta G, Tresser N, Suchy SF, Nussbaum RL, Brownstein MJ, Polymeropoulos MH. Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease. Mol Psychiatry. 1998 Nov; 3(6):493-9.
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      106. Lavedan C, Leroy E, Dehejia A, Buchholtz S, Dutra A, Nussbaum RL, Polymeropoulos MH. Identification, localization and characterization of the human gamma-synuclein gene. Hum Genet. 1998 Jul; 103(1):106-12.
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      107. Lavedan C, Grabczyk E, Usdin K, Nussbaum RL. Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice. Genomics. 1998 Jun 1; 50(2):229-40.
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      108. Jänne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum RL. Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J Clin Invest. 1998 May 15; 101(10):2042-53.
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      109. Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL. Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Mol Genet Metab. 1998 May; 64(1):58-61.
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      110. Nussbaum RL. Putting the parkin into Parkinson's. Nature. 1998 Apr 9; 392(6676):544-5.
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      111. Lavedan C, Dehejia A, Pike B, Dutra A, Leroy E, Ide SE, Root H, Rubenstein J, Boyer RL, Chandrasekharappa S, Makalowska I, Nussbaum RL, Polymeropoulos MH. Contig map of the Parkinson's disease region on 4q21-q23. DNA Res. 1998 Feb 28; 5(1):19-23.
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      112. Srinivasan S, Seaman M, Nemoto Y, Daniell L, Suchy SF, Emr S, De Camilli P, Nussbaum R. Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis. Eur J Cell Biol. 1997 Dec; 74(4):350-60.
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      113. Lavedan CN, Garrett L, Nussbaum RL. Trinucleotide repeats (CGG)22TGG(CGG)43TGG(CGG)21 from the fragile X gene remain stable in transgenic mice. Hum Genet. 1997 Sep; 100(3-4):407-14.
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      115. Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. Am J Hum Genet. 1997 Jun; 60(6):1384-8.
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      116. Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC. Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet. 1997 Feb; 99(2):145-50.
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      117. Nussbaum RL, Polymeropoulos MH. Genetics of Parkinson's disease. Hum Mol Genet. 1997; 6(10):1687-91.
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      118. Bouscarel B, Reza S, Dougherty LA, Fromm H, Nussbaum R. Regulation of taurocholate and ursodeoxycholate uptake in hamster hepatocytes by Ca(2+)-mobilizing agents. Am J Physiol. 1996 Dec; 271(6 Pt 1):G1084-95.
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      119. Polymeropoulos MH, Higgins JJ, Golbe LI, Johnson WG, Ide SE, Di Iorio G, Sanges G, Stenroos ES, Pho LT, Schaffer AA, Lazzarini AM, Nussbaum RL, Duvoisin RC. Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science. 1996 Nov 15; 274(5290):1197-9.
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      120. Middaugh LD, Nussbaum R, Ludwicka A, Bolster MB, Silver RM. Cognitive deficits in a murine model of the eosinophilia-myalgia syndrome: a preliminary report. Neurotoxicol Teratol. 1996 Sep-Oct; 18(5):595-601.
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      121. Okabe I, Nussbaum RL. Identification and chromosomal mapping of the mouse inositol polyphosphate 1-phosphatase gene. Genomics. 1995 Nov 20; 30(2):358-60.
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      122. Zhang Y, O'Connor JP, Siomi MC, Srinivasan S, Dutra A, Nussbaum RL, Dreyfuss G. The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J. 1995 Nov 1; 14(21):5358-66.
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      123. Olivos-Glander IM, Jänne PA, Nussbaum RL. The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet. 1995 Oct; 57(4):817-23.
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      124. Oakey RJ, Matteson PG, Litwin S, Tilghman SM, Nussbaum RL. Nondisjunction rates and abnormal embryonic development in a mouse cross between heterozygotes carrying a (7, 18) robertsonian translocation chromosome. Genetics. 1995 Oct; 141(2):667-74.
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      125. May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M, Schwartz C. Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. Hum Mol Genet. 1995 Aug; 4(8):1465-6.
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      126. Jänne PA, Rochelle JM, Martin-DeLeon PA, Stambolian D, Seldin MF, Nussbaum RL. Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens. Genomics. 1995 Jul 20; 28(2):280-5.
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      127. Siomi MC, Siomi H, Sauer WH, Srinivasan S, Nussbaum RL, Dreyfuss G. FXR1, an autosomal homolog of the fragile X mental retardation gene. EMBO J. 1995 Jun 1; 14(11):2401-8.
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      128. Hudson TJ, Colbert AM, Reeve MP, Bae JS, Lee MK, Nussbaum RL, Budarf ML, Emanuel BS, Foote S. Isolation and regional mapping of 110 chromosome 22 STSs. Genomics. 1994 Dec; 24(3):588-92.
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      129. Siomi H, Choi M, Siomi MC, Nussbaum RL, Dreyfuss G. Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell. 1994 Apr 8; 77(1):33-9.
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      130. Jänne PA, Dutra AS, Dracopoli NC, Charnas LR, Puck JM, Nussbaum RL. Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. Cytogenet Cell Genet. 1994; 66(3):164-6.
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      131. Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell. 1993 Jul 30; 74(2):291-8.
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      132. Leahey AM, Charnas LR, Nussbaum RL. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet. 1993 Apr; 2(4):461-3.
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      133. Schnur RE, Wick PA, Sosnoski DN, Bick D, Nussbaum RL. Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region. Genomics. 1993 Mar; 15(3):500-6.
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      134. Emanuel BS, Buetow K, Nussbaum R, Scambler P, Lipinski M, Overton GC. Report of the third international workshop on human chromosome 22 mapping. Cytogenet Cell Genet. 1993; 63(4):206-11.
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      135. Okabe I, Bailey LC, Attree O, Srinivasan S, Perkel JM, Laurent BC, Carlson M, Nelson DL, Nussbaum RL. Cloning of human and bovine homologs of SNF2/SWI2: a global activator of transcription in yeast S. cerevisiae. Nucleic Acids Res. 1992 Sep 11; 20(17):4649-55.
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      136. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 1992 Jul 16; 358(6383):239-42.
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      137. Spielman RS, Nussbaum RL. Dual developments in diabetes. Nat Genet. 1992 May; 1(2):82-3.
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      138. Puck JM, Stewart CC, Nussbaum RL. Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency. Am J Hum Genet. 1992 Apr; 50(4):742-8.
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      139. Merry DE, Jänne PA, Landers JE, Lewis RA, Nussbaum RL. Isolation of a candidate gene for choroideremia. Proc Natl Acad Sci U S A. 1992 Mar 15; 89(6):2135-9.
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      140. Lee JT, Murgia A, Sosnoski DM, Olivos IM, Nussbaum RL. Construction and characterization of a yeast artificial chromosome library for Xpter-Xq27.3: a systematic determination of cocloning rate and X-chromosome representation. Genomics. 1992 Mar; 12(3):526-33.
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      141. Okabe I, Attree O, Bailey LC, Nelson DL, Nussbaum RL. Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes. J Inherit Metab Dis. 1992; 15(4):526-31.
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      142. Schnur RE, Nussbaum RL, Anson-Cartwright L, McDowell C, Worton RG, Musarella MA. Linkage analysis in X-linked ocular albinism. Genomics. 1991 Apr; 9(4):605-13.
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      143. Montanaro V, Casamassimi A, D'Urso M, Yoon JY, Freije W, Schlessinger D, Muenke M, Nussbaum RL, Saccone S, Maugeri S, et al. In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA. Am J Hum Genet. 1991 Feb; 48(2):183-94.
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      144. Reilly DS, Nussbaum RL. Parental origin of de novo translocation in a patient with both an inherited and a de novo chromosome translocation. Am J Med Genet. 1990 Nov; 37(3):429-30.
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      145. Schnur RE, Knowlton RG, Musarella MA, Muenke M, Nussbaum RL. Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis. Genomics. 1990 Oct; 8(2):255-62.
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      146. Reilly DS, Lewis RA, Nussbaum RL. Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. Genomics. 1990 Sep; 8(1):62-70.
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      147. Wright AF, Nussbaum RL, Bhattacharya SS, Jay M, Lesko JG, Evans HJ, Jay B. Linkage studies and deletion screening in choroideremia. J Med Genet. 1990 Aug; 27(8):496-8.
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      148. Stambolian D, Lewis RA, Buetow K, Bond A, Nussbaum R. Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. Am J Hum Genet. 1990 Jul; 47(1):13-9.
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      149. Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM. Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr. 1990 Jun; 116(6):911-7.
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      150. Merry DE, Lesko JG, Siu V, Flintoff WF, Collins F, Lewis RA, Nussbaum RL. DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. Genomics. 1990 Apr; 6(4):609-15.
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      151. Davies KE, Mandel JL, Monaco AP, Nussbaum RL, Willard HF. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet. 1990; 55(1-4):254-313.
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      152. Trask B, van den Engh G, Nussbaum R, Schwartz C, Gray J. Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping. Cytometry. 1990; 11(1):184-95.
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      153. Lewis RA, Nussbaum RL, Stambolian D. Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3. Ophthalmology. 1990 Jan; 97(1):110-20; discussion 120-1.
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      154. Lee JT, Nussbaum RL. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. J Clin Invest. 1989 Dec; 84(6):1762-6.
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      155. Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE, Nussbaum RL. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Am J Hum Genet. 1989 Nov; 45(5):706-20.
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      156. Merry DE, Lesko JG, Sosnoski DM, Lewis RA, Lubinsky M, Trask B, van den Engh G, Collins FS, Nussbaum RL. Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet. 1989 Oct; 45(4):530-40.
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      157. Smead DL, Nussbaum RL, Puck JM. RFLPs in human X-linked PGK1: a new probe for the PstI RFLP demonstrates strong linkage disequilibrium with the BgII RFLP. Nucleic Acids Res. 1989 Sep 25; 17(18):7551.
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      158. Reilly DS, Sosnoski DM, Nussbaum RL. Detection of translocation breakpoints by pulsed field gel analysis: practical considerations. Nucleic Acids Res. 1989 Jul 11; 17(13):5414.
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      159. Skare JC, Grierson HL, Sullivan JL, Nussbaum RL, Purtilo DT, Sylla BS, Lenoir GM, Reilly DS, White BN, Milunsky A. Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37. Hum Genet. 1989 Jul; 82(4):354-8.
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      160. Schneider-Gädicke A, Beer-Romero P, Brown LG, Nussbaum R, Page DC. ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation. Cell. 1989 Jun 30; 57(7):1247-58.
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      161. Puck JM, Nussbaum RL, Smead DL, Conley ME. X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis. Am J Hum Genet. 1989 May; 44(5):724-30.
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      162. Musarella MA, Anson-Cartwright L, Burghes A, Worton RG, Lesko JG, Nussbaum RL. Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier. Genomics. 1989 May; 4(4):601-5.
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      163. Schnur RE, Ledbetter SA, Ledbetter DH, Merry DE, Nussbaum RL. New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization. Am J Hum Genet. 1989 Feb; 44(2):248-54.
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      165. Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers HH. Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics. 1989 Jan; 4(1):41-6.
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      166. Maddalena A, Sosnoski DM, Berry GT, Nussbaum RL. Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. N Engl J Med. 1988 Oct 13; 319(15):999-1003.
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      169. Reilly DS, Lewis RA, Ledbetter DH, Nussbaum RL. Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. Am J Hum Genet. 1988 May; 42(5):748-55.
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      171. Nussbaum RL, Lesko JG, Lewis RA, Ledbetter SA, Ledbetter DH. Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. Proc Natl Acad Sci U S A. 1987 Sep; 84(18):6521-5.
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      174. van Tuinen P, Johnson KR, Ledbetter SA, Nussbaum RL, Rovera G, Ledbetter DH. Localization of myeloperoxidase to the long arm of human chromosome 17: relationship to the 15; 17 translocation of acute promyelocytic leukemia. Oncogene. 1987; 1(3):319-22.
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      175. Silver DN, Lewis RA, Nussbaum RL. Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. J Clin Invest. 1987 Jan; 79(1):282-5.
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      177. Lesko JG, Nussbaum RL. RFLP locus DXS42 is proximal to the locus for hypoxanthine phosphoribosyltransferase. Am J Hum Genet. 1986 Nov; 39(5):669-70.
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      179. Ledbetter DH, Airhart SD, Nussbaum RL. Somatic cell hybrid studies of fragile (X) expression in a carrier female and transmitting male. Am J Med Genet. 1986 Jan-Feb; 23(1-2):429-43.
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      180. Nussbaum RL, Airhart SD, Ledbetter DH. A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site. Am J Med Genet. 1986 Jan-Feb; 23(1-2):457-66.
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      183. Ledbetter DH, Airhart SD, Nussbaum RL. Caffeine enhances fragile (X) expression in somatic cell hybrids. Am J Med Genet. 1986 Jan-Feb; 23(1-2):445-55.
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      184. Nussbaum RL, Walmsley RM, Lesko JG, Airhart SD, Ledbetter DH. Thymidylate synthase-deficient Chinese hamster cells: a selection system for human chromosome 18 and experimental system for the study of thymidylate synthase regulation and fragile X expression. Am J Hum Genet. 1985 Nov; 37(6):1192-205.
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      185. Cantú ES, Nussbaum RL, Airhart SD, Ledbetter DH. Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity. Am J Hum Genet. 1985 Sep; 37(5):947-55.
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      186. Pang S, Pollack MS, Loo M, Green O, Nussbaum R, Clayton G, Dupont B, New MI. Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1985 Jul; 61(1):89-97.
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      187. Lewis RA, Nussbaum RL, Ferrell R. Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24. Ophthalmology. 1985 Jun; 92(6):800-6.
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      188. Nussbaum RL, Lewis RA, Lesko JG, Ferrell R. Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. Am J Hum Genet. 1985 May; 37(3):473-81.
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      189. Nussbaum RL, Lewis RA, Lesko JG, Ferrell R. Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers. Hum Genet. 1985; 70(1):45-50.
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      190. Pang S, Pollack MS, Loo M, Green O, Nussbaum R, Clayton G, Dupont B, New MI. Pitfalls of prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia. Ann N Y Acad Sci. 1985; 458:111-29.
        View in: PubMed
      191. Boggs BA, Nussbaum RL. Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26----qter. Somat Cell Mol Genet. 1984 Nov; 10(6):607-13.
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      192. Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL. Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet. 1984 Sep; 36(5):954-64.
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      193. Patel PI, Nussbaum RL, gramson PE, Ledbetter DH, Caskey CT, Chinault AC. Organization of the HPRT gene and related sequences in the human genome. Somat Cell Mol Genet. 1984 Sep; 10(5):483-93.
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      194. Lewis RA, Crowder WE, Eierman LA, Nussbaum RL, Ferrell RE. The Gardner syndrome. Significance of ocular features. Ophthalmology. 1984 Aug; 91(8):916-25.
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      195. Purrello M, Nussbaum R, Rinaldi A, Filippi G, Traccis S, Latte B, Siniscalco M. Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm. Hum Genet. 1984; 65(3):295-9.
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      196. Chinault AC, Brennand J, Konecki DS, Nussbaum RL, Caskey CT. Characterization and use of cloned sequences of the hypoxanthine-guanine phosphoribosyltransferase gene. Adv Exp Med Biol. 1984; 165 Pt A:411-5.
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      197. Wilson JM, Frossard P, Nussbaum RL, Caskey CT, Kelley WN. Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis. J Clin Invest. 1983 Sep; 72(3):767-72.
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      198. Nussbaum RL, Crowder WE, Nyhan WL, Caskey CT. A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A. 1983 Jul; 80(13):4035-9.
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      199. Nussbaum RL, Airhart SD, Ledbetter DH. Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid. Hum Genet. 1983; 64(2):148-50.
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      200. Nussbaum RL, Caskey CT. Purification and characterization of hypoxanthine-guanine phosphoribosyltransferase from Saccharomyces cerevisiae. Biochemistry. 1981 Aug 4; 20(16):4584-90.
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      201. Caskey CT, Nussbaum RL, Cohan LC, Pollack L. Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation. Clin Genet. 1980 Nov; 18(5):329-41.
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      202. Nussbaum R, Puck J. Recurrence risks for retinoblastoma: a model for autosomal dominant disorders with complex inheritance. J Pediatr Ophthalmol. 1976 Mar; 13(2):89-98.
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