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Robert Nussbaum, MD

TitleClinical Professor
SchoolUCSF School of Medicine
DepartmentMedicine
Address513 Parnassus Ave
San Francisco CA 94143
Phone415-885-7779
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    Collapse Biography 
    Collapse Education and Training
    Harvard UniversityM.D.1975School of Medicine
    Collapse 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

    Collapse Research 
    Collapse Research Activities and Funding
    A Unified Clinical Genomics Database
    NIH U41HG006834Sep 23, 2013 - Jul 31, 2017
    Role: Principal Investigator
    Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening
    NIH U19HD077627Sep 5, 2013 - Aug 31, 2018
    Role: Principal Investigator
    Combined BAC Transgenic and Knock-Out Mouse Model of Lowe Syndrome Nephropathy
    NIH R01DK087728Apr 1, 2012 - Feb 28, 2015
    Role: Principal Investigator
    Combined BAC Transgenic and Knock-Out Mouse Model of Lowe Syndrome Nephropathy
    NIH R56DK087728Sep 30, 2010 - Sep 29, 2011
    Role: Principal Investigator
    GI Endotoxin as an Environmental Trigger in an alpha-Synuclein Transgenic Mouse
    NIH R01ES017793Jul 6, 2010 - Jun 30, 2014
    Role: Principal Investigator
    Glucocerebrosidase mutations in a mouse synucleinopathy model
    NIH R33AG033941Mar 1, 2009 - Mar 31, 2012
    Role: Principal Investigator
    Glucocerebrosidase mutations in a mouse synucleinopathy model
    NIH R21AG033941Mar 1, 2009 - Feb 29, 2012
    Role: Principal Investigator
    POSTDOCTORAL TRAINING IN MOLECULAR GENETIC RESEARCH
    NIH T32GM008252Jul 1, 1988 - Aug 31, 1993
    Role: Principal Investigator
    MOLECULAR GENETIC ANALYSIS OF LOWE'S SYNDROME
    NIH R01HD023245Sep 1, 1987 - Aug 31, 1996
    Role: Principal Investigator
    ISOLATING THE GENE FOR CHOROIDEREMIA
    NIH R01EY006566Apr 1, 1987 - Mar 31, 1995
    Role: Principal Investigator
    MOLECULAR ANALYSIS OF FRAGILE X IN SOMATIC CELL HYBRIDS
    NIH R01HD020227Sep 1, 1984 - Jun 30, 1988
    Role: Principal Investigator
    The Lowe Oculocerebrorenal Syndrome
    NIH Z01HG000040
    Role: Principal Investigator
    MICE DEFECTIVE IN PHOSPHATIDYLINOSITOL SIGNALING
    NIH Z01HG000041
    Role: Principal Investigator
    TRIPLET REPEAT AMPLIFICATION IN THE FRAGILE X SYNDROME
    NIH Z01HG000042
    Role: Principal Investigator
    Outcomes of Education and Counseling for HNPCC Testing
    NIH Z01HG000059
    Role: Principal Investigator
    MUTATION ANALYSIS IN PATIENTS WITH LOWE OCULOCEREBRORENAL SYNDROME
    NIH Z01HG000067
    Role: Principal Investigator
    Genetics of Parkinson's Disease
    NIH Z01HG000117
    Role: Principal Investigator
    MOUSE MODEL FOR BATTEN'S DISEASE
    NIH Z01HG000141
    Role: Principal Investigator
    Batten disease
    NIH Z01HG000168
    Role: Principal Investigator
    Studies on mouse vit C transporter
    NIH Z01HG000169
    Role: Principal Investigator
    Positional cloning of autosomal dominant Fanconi Syndrom
    NIH Z01HG000184
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Websites
    Collapse In The News
    Collapse Featured Videos

    Collapse Bibliographic 
    Collapse 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. Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S. Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. J Am Soc Nephrol. 2016 Nov 28. PMID: 27895154.
      View in: PubMed
    2. Rebbeck TR, Friebel TM, Mitra N, Wan F, Chen S, Andrulis IL, Apostolou P, Arnold N, Arun BK, Barrowdale D, Benitez J, Berger R, Berthet P, Borg A, Buys SS, Caldes T, Carter J, Chiquette J, Claes KB, Couch FJ, Cybulski C, Daly MB, de la Hoya M, Diez O, Domchek SM, Nathanson KL, Durda K, Ellis S, Evans DG, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Glendon G, Godwin AK, Greene MH, Gronwald J, Hahnen E, Hallberg E, Hamann U, Hansen TV, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska-Bieniek K, John EM, Karlan BY, Kaufman B, Investigators K, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Loman N, Lubinski J, Manoukian S, Mitchell G, Montagna M, Neuhausen SL, Nevanlinna H, Niederacher D, Nussbaum RL, Offit K, Olah E, Olopade OI, Park SK, Piedmonte M, Radice P, Rappaport-Fuerhauser C, Rookus MA, Seynaeve C, Simard J, Singer CF, Soucy P, Southey M, Stoppa-Lyonnet D, Sukiennicki G, Szabo CI, Tancredi M, Teixeira MR, Teo SH, Terry MB, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Toloczko-Grabarek A, Tung N, van Rensburg EJ, Villano D, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Zidan J, Zorn KK, McGuffog L, Easton D, Chenevix-Trench G, Antoniou AC, Ramus SJ. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. Breast Cancer Res. 2016 Nov 11; 18(1):112. PMID: 27836010.
      View in: PubMed
    3. Lawrenson K, Kar S, McCue K, Kuchenbaeker K, Michailidou K, Tyrer J, Beesley J, Ramus SJ, Li Q, Delgado MK, Lee JM, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Bandera EV, Barile M, Barkardottir RB, Barrowdale D, Beckmann MW, Benitez J, Berchuck A, Bisogna M, Bjorge L, Blomqvist C, Blot W, Bogdanova N, Bojesen A, Bojesen SE, Bolla MK, Bonanni B, Børresen-Dale AL, Brauch H, Brennan P, Brenner H, Bruinsma F, Brunet J, Buhari SA, Burwinkel B, Butzow R, Buys SS, Cai Q, Caldes T, Campbell I, Canniotto R, Chang-Claude J, Chiquette J, Choi JY, Claes KB, Cook LS, Cox A, Cramer DW, Cross SS, Cybulski C, Czene K, Daly MB, Damiola F, Dansonka-Mieszkowska A, Darabi H, Dennis J, Devilee P, Diez O, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dumont M, Ehrencrona H, Ejlertsen B, Ellis S, Engel C, Lee E, Evans DG, Fasching PA, Feliubadalo L, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Foretova L, Fostira F, Foulkes WD, Fridley BL, Friedman E, Frost D, Gambino G, Ganz PA, Garber J, García-Closas M, Gentry-Maharaj A, Ghoussaini M, Giles GG, Glasspool R, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Goode EL, Goodman MT, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hallberg E, Hamann U, Hansen TV, Harrington PA, Hartman M, Hassan N, Healey S, Heitz F, Herzog J, Høgdall E, Høgdall CK, Hogervorst FB, Hollestelle A, Hopper JL, Hulick PJ, Huzarski T, Imyanitov EN, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jensen A, John EM, Johnson N, Kabisch M, Kang D, Kapuscinski M, Karlan BY, Khan S, Kiemeney LA, Kjaer SK, Knight JA, Konstantopoulou I, Kosma VM, Kristensen V, Kupryjanczyk J, Kwong A, de la Hoya M, Laitman Y, Lambrechts D, Le N, De Leeneer K, Lester J, Levine DA, Li J, Lindblom A, Long J, Lophatananon A, Loud JT, Lu K, Lubinski J, Mannermaa A, Manoukian S, Le Marchand L, Margolin S, Marme F, Massuger LF, Matsuo K, Mazoyer S, McGuffog L, McLean C, McNeish I, Meindl A, Menon U, Mensenkamp AR, Milne RL, Montagna M, Moysich KB, Muir K, Mulligan AM, Nathanson KL, Ness RB, Neuhausen SL, Nevanlinna H, Nord S, Nussbaum RL, Odunsi K, Offit K, Olah E, Olopade OI, Olson JE, Olswold C, O'Malley D, Orlow I, Orr N, Osorio A, Park SK, Pearce CL, Pejovic T, Peterlongo P, Pfeiler G, Phelan CM, Poole EM, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Rhenius V, Rhiem K, Risch HA, Rodriguez G, Rossing MA, Rudolph A, Salvesen HB, Sangrajrang S, Sawyer EJ, Schildkraut JM, Schmidt MK, Schmutzler RK, Sellers TA, Seynaeve C, Shah M, Shen CY, Shu XO, Sieh W, Singer CF, Sinilnikova OM, Slager S, Song H, Soucy P, Southey MC, Stenmark-Askmalm M, Stoppa-Lyonnet D, Sutter C, Swerdlow A, Tchatchou S, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, Toland AE, Tomlinson I, Torres D, Truong T, Tseng CC, Tung N, Tworoger SS, Vachon C, van den Ouweland AM, van Doorn HC, van Rensburg EJ, Van't Veer LJ, Vanderstichele A, Vergote I, Vijai J, Wang Q, Wang-Gohrke S, Weitzel JN, Wentzensen N, Whittemore AS, Wildiers H, Winqvist R, Wu AH, Yannoukakos D, Yoon SY, Yu JC, Zheng W, Zheng Y, Khanna KK, Simard J, Monteiro AN, French JD, Couch FJ, Freedman ML, Easton DF, Dunning AM, Pharoah PD, Edwards SL, Chenevix-Trench G, Antoniou AC, Gayther SA. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus. Nat Commun. 2016; 7:12675. PMID: 27601076; PMCID: PMC5023955.
    4. Zeng C, Guo X, Long J, Kuchenbaecker KB, Droit A, Michailidou K, Ghoussaini M, Kar S, Freeman A, Hopper JL, Milne RL, Bolla MK, Wang Q, Dennis J, Agata S, Ahmed S, Aittomäki K, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Arun BK, Arver B, Bacot F, Barrowdale D, Baynes C, Beeghly-Fadiel A, Benitez J, Bermisheva M, Blomqvist C, Blot WJ, Bogdanova NV, Bojesen SE, Bonanni B, Borresen-Dale AL, Brand JS, Brauch H, Brennan P, Brenner H, Broeks A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldes T, Campbell I, Carpenter J, Chang-Claude J, Choi JY, Claes KB, Clarke C, Cox A, Cross SS, Czene K, Daly MB, de la Hoya M, De Leeneer K, Devilee P, Diez O, Domchek SM, Doody M, Dorfling CM, Dörk T, Dos-Santos-Silva I, Dumont M, Dwek M, Dworniczak B, Egan K, Eilber U, Einbeigi Z, Ejlertsen B, Ellis S, Frost D, Lalloo F, Fasching PA, Figueroa J, Flyger H, Friedlander M, Friedman E, Gambino G, Gao YT, Garber J, García-Closas M, Gehrig A, Damiola F, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, Giles GG, Godwin AK, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Haiman CA, Hallberg E, Hamann U, Hansen TV, Hart S, Hartikainen JM, Hartman M, Hassan N, Healey S, Hogervorst FB, Verhoef S, Hendricks CB, Hillemanns P, Hollestelle A, Hulick PJ, Hunter DJ, Imyanitov EN, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB, John EM, Joly Beauparlant C, Jones M, Kabisch M, Kang D, Karlan BY, Kauppila S, Kerin MJ, Khan S, Khusnutdinova E, Knight JA, Konstantopoulou I, Kraft P, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Le Marchand L, Lee CN, Lee MH, Lester J, Li J, Liljegren A, Lindblom A, Lophatananon A, Lubinski J, Mai PL, Mannermaa A, Manoukian S, Margolin S, Marme F, Matsuo K, McGuffog L, Meindl A, Menegaux F, Montagna M, Muir K, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Newcomb PA, Nord S, Nussbaum RL, Offit K, Olah E, Olopade OI, Olswold C, Osorio A, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Peeters S, Peissel B, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Presneau N, Radice P, Rahman N, Ramus SJ, Rashid MU, Rennert G, Rhiem K, Rudolph A, Salani R, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Schoemaker MJ, Schürmann P, Seynaeve C, Shen CY, Shrubsole MJ, Shu XO, Sigurdson A, Singer CF, Slager S, Soucy P, Southey M, Steinemann D, Swerdlow A, Szabo CI, Tchatchou S, Teixeira MR, Teo SH, Terry MB, Tessier DC, Teulé A, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Tung N, Turnbull C, van den Ouweland AM, van Rensburg EJ, Ven den Berg D, Vijai J, Wang-Gohrke S, Weitzel JN, Whittemore AS, Winqvist R, Wong TY, Wu AH, Yannoukakos D, Yu JC, Pharoah PD, Hall P, Chenevix-Trench G, Dunning AM, Simard J, Couch FJ, Antoniou AC, Easton DF, Zheng W. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Breast Cancer Res. 2016; 18(1):64. PMID: 27459855.
      View in: PubMed
    5. Wang Y, Bernhardy AJ, Cruz C, Krais JJ, Nacson J, Nicolas E, Peri S, van der Gulden H, van der Heijden I, O'Brien SW, Zhang Y, Harrell MI, Johnson SF, Candido Dos Reis FJ, Pharoah PD, Karlan B, Gourley C, Lambrechts D, Chenevix-Trench G, Olsson H, Benitez JJ, Greene MH, Gore M, Nussbaum R, Sadetzki S, Gayther SA, Kjaer SK, D'Andrea AD, Shapiro GI, Wiest DL, Connolly DC, Daly MB, Swisher EM, Bouwman P, Jonkers J, Balmaña J, Serra V, Johnson N. The BRCA1-?11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin. Cancer Res. 2016 May 1; 76(9):2778-90. PMID: 27197267.
      View in: PubMed
    6. Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J, Healey CS, Kar S, Pooley KA, Lopez-Knowles E, Dicks E, Barrowdale D, Sinnott-Armstrong NA, Sallari RC, Hillman KM, Kaufmann S, Sivakumaran H, Moradi Marjaneh M, Lee JS, Hills M, Jarosz M, Drury S, Canisius S, Bolla MK, Dennis J, Wang Q, Hopper JL, Southey MC, Broeks A, Schmidt MK, Lophatananon A, Muir K, Beckmann MW, Fasching PA, Dos-Santos-Silva I, Peto J, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, González-Neira A, Perez JI, Anton-Culver H, Eunjung L, Arndt V, Brenner H, Meindl A, Schmutzler RK, Brauch H, Hamann U, Aittomäki K, Blomqvist C, Ito H, Matsuo K, Bogdanova N, Dörk T, Lindblom A, Margolin S, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Lambrechts D, Wildiers H, Chang-Claude J, Rudolph A, Peterlongo P, Radice P, Olson JE, Giles GG, Milne RL, Haiman CA, Henderson BE, Goldberg MS, Teo SH, Yip CH, Nord S, Borresen-Dale AL, Kristensen V, Long J, Zheng W, Pylkäs K, Winqvist R, Andrulis IL, Knight JA, Devilee P, Seynaeve C, Figueroa J, Sherman ME, Czene K, Darabi H, Hollestelle A, van den Ouweland AM, Humphreys K, Gao YT, Shu XO, Cox A, Cross SS, Blot W, Cai Q, Ghoussaini M, Perkins BJ, Shah M, Choi JY, Kang D, Lee SC, Hartman M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Brennan P, Sangrajrang S, Ambrosone CB, Toland AE, Shen CY, Wu PE, Orr N, Swerdlow A, McGuffog L, Healey S, Lee A, Kapuscinski M, John EM, Terry MB, Daly MB, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ejlertsen B, Hansen TV, Osorio A, Benitez J, Rando R, Weitzel JN, Bonanni B, Peissel B, Manoukian S, Papi L, Ottini L, Konstantopoulou I, Apostolou P, Garber J, Rashid MU, Frost D, Izatt L, Ellis S, Godwin AK, Arnold N, Niederacher D, Rhiem K, Bogdanova-Markov N, Sagne C, Stoppa-Lyonnet D, Damiola F, Sinilnikova OM, Mazoyer S, Isaacs C, Claes KB, De Leeneer K, de la Hoya M, Caldes T, Nevanlinna H, Khan S, Mensenkamp AR, Hooning MJ, Rookus MA, Kwong A, Olah E, Diez O, Brunet J, Pujana MA, Gronwald J, Huzarski T, Barkardottir RB, Laframboise R, Soucy P, Montagna M, Agata S, Teixeira MR, Park SK, Lindor N, Couch FJ, Tischkowitz M, Foretova L, Vijai J, Offit K, Singer CF, Rappaport C, Phelan CM, Greene MH, Mai PL, Rennert G, Imyanitov EN, Hulick PJ, Phillips KA, Piedmonte M, Mulligan AM, Glendon G, Bojesen A, Thomassen M, Caligo MA, Yoon SY, Friedman E, Laitman Y, Borg A, von Wachenfeldt A, Ehrencrona H, Rantala J, Olopade OI, Ganz PA, Nussbaum RL, Gayther SA, Nathanson KL, Domchek SM, Arun BK, Mitchell G, Karlan BY, Lester J, Maskarinec G, Woolcott C, Scott C, Stone J, Apicella C, Tamimi R, Luben R, Khaw KT, Helland Å, Haakensen V, Dowsett M, Pharoah PD, Simard J, Hall P, García-Closas M, Vachon C, Chenevix-Trench G, Antoniou AC, Easton DF, Edwards SL. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet. 2016 Apr; 48(4):374-86. PMID: 26928228.
      View in: PubMed
    7. Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA, Friedman JR, Haase DH, Hays TS, Heilsberg S, Huber J, Kaminsky L, Ledbetter N, Lee WH, Levin E, Libiger O, Linderman M, Love RL, Magnus DC, Martland A, McClure SL, Megill SE, Messier H, Nussbaum RL, Palaniappan L, Patay BA, Popovich BW, Quackenbush J, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC. Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn. 2016 May; 16(5):521-32. PMID: 26810587.
      View in: PubMed
    8. Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM, Rebbeck TR, Ramus SJ, Nussbaum RL, Olopade OI, Rantala J, Yoon SY, Caligo MA, Spugnesi L, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Toland AE, Senter L, Andrulis IL, Glendon G, Hulick PJ, Imyanitov EN, Greene MH, Mai PL, Singer CF, Rappaport-Fuerhauser C, Kramer G, Vijai J, Offit K, Robson M, Lincoln A, Jacobs L, Machackova E, Foretova L, Navratilova M, Vasickova P, Couch FJ, Hallberg E, Ruddy KJ, Sharma P, Kim SW, Teixeira MR, Pinto P, Montagna M, Matricardi L, Arason A, Johannsson OT, Barkardottir RB, Jakubowska A, Lubinski J, Izquierdo A, Pujana MA, Balmaña J, Diez O, Ivady G, Papp J, Olah E, Kwong A, Nevanlinna H, Aittomäki K, Perez Segura P, Caldes T, Van Maerken T, Poppe B, Claes KB, Isaacs C, Elan C, Lasset C, Stoppa-Lyonnet D, Barjhoux L, Belotti M, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Kast K, Arnold N, Varon-Mateeva R, Wand D, Godwin AK, Evans DG, Frost D, Perkins J, Adlard J, Izatt L, Platte R, Eeles R, Ellis S, Hamann U, Garber J, Fostira F, Fountzilas G, Pasini B, Giannini G, Rizzolo P, Russo A, Cortesi L, Papi L, Varesco L, Palli D, Zanna I, Savarese A, Radice P, Manoukian S, Peissel B, Barile M, Bonanni B, Viel A, Pensotti V, Tommasi S, Peterlongo P, Weitzel JN, Osorio A, Benitez J, McGuffog L, Healey S, Gerdes AM, Ejlertsen B, Hansen TV, Steele L, Ding YC, Tung N, Janavicius R, Goldgar DE, Buys SS, Daly MB, Bane A, Terry MB, John EM, Southey M, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016 Feb 09; 18(1):15. PMID: 26857456; PMCID: PMC4746828.
    9. Brenner SE, Kingsmore S, Mooney SD, Nussbaum R, Puck J. USE OF GENOME DATA IN NEWBORNS AS A STARTING POINT FOR LIFE-LONG PRECISION MEDICINE. Pac Symp Biocomput. 2016; 21:568-75. PMID: 26776219.
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    105. 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. PMID: 11751692.
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    106. Hellsten E, Evans JP, Bernard DJ, Jänne PA, Nussbaum RL. Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5-phosphatase Inpp5b. Dev Biol. 2001 Dec 15; 240(2):641-53. PMID: 11784089.
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    107. Cole NB, Murphy DD, Grider T, Rueter S, Brasaemle D, Nussbaum RL. Lipid droplet binding and oligomerization properties of the Parkinson's disease protein alpha-synuclein. J Biol Chem. 2002 Feb 22; 277(8):6344-52. PMID: 11744721.
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    108. 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. PMID: 11688652.
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    109. 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. PMID: 11156617; PMCID: PMC311023.
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    111. 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. PMID: 11214969.
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    112. 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. PMID: 11146467.
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    113. 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. PMID: 11078745.
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    114. 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. PMID: 10977419.
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    115. 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. PMID: 10639484.
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    116. Nussbaum R, Auburger G. Neurodegeneration in the polyglutamine diseases: Act 1, Scene 1. Nat Neurosci. 2000 Feb; 3(2):103-4. PMID: 10649562.
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    117. Thompson M, Nussbaum R. An HMO survey on mass customization of healthcare delivery for women. Womens Health Issues. 2000 Jan-Feb; 10(1):10-9. PMID: 10697464.
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    118. Mitchison HM, Bernard DJ, Greene ND, Cooper JD, Junaid MA, Pullarkat RK, de Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PE, Nussbaum RL. Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]. Neurobiol Dis. 1999 Oct; 6(5):321-34. PMID: 10527801.
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    119. 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. PMID: 10196176.
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    120. 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. PMID: 10191119.
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    121. 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. PMID: 9915833.
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    122. Lin T, Lewis RA, Nussbaum RL. Molecular confirmation of carriers for Lowe syndrome. Ophthalmology. 1999 Jan; 106(1):119-22. PMID: 9917791.
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    123. 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. PMID: 10048491.
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    124. 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. PMID: 9806846.
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    125. 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. PMID: 9854717.
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    126. 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. PMID: 9857974.
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    127. 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. PMID: 9737786.
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    128. 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. PMID: 9653650.
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    129. 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. PMID: 9593760; PMCID: PMC508792.
    130. 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. PMID: 9682219.
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    131. Nussbaum RL. Putting the parkin into Parkinson's. Nature. 1998 Apr 9; 392(6676):544-5. PMID: 9560145.
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    132. 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. PMID: 9628579.
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    133. 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. PMID: 9438131.
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    134. 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. PMID: 9272164.
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    135. Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997 Jun 27; 276(5321):2045-7. PMID: 9197268.
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    136. 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. PMID: 9199559; PMCID: PMC1716142.
    137. 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. PMID: 9048911.
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    138. Nussbaum RL, Polymeropoulos MH. Genetics of Parkinson's disease. Hum Mol Genet. 1997; 6(10):1687-91. PMID: 9300660.
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    139. 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. PMID: 8997253.
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    140. 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. PMID: 8895469.
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    141. 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. PMID: 8888024.
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    142. Okabe I, Nussbaum RL. Identification and chromosomal mapping of the mouse inositol polyphosphate 1-phosphatase gene. Genomics. 1995 Nov 20; 30(2):358-60. PMID: 8586440.
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    143. 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. PMID: 7489725; PMCID: PMC394645.
    144. 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. PMID: 8647401; PMCID: PMC1206764.
    145. 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. PMID: 7573041; PMCID: PMC1801524.
    146. 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. PMID: 7581391.
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    147. 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. PMID: 8530037.
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    148. 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. PMID: 7781595; PMCID: PMC398353.
    149. 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. PMID: 7713513.
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    150. 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. PMID: 8156595.
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    151. 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. PMID: 8125013.
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    152. 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. PMID: 7688265.
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    153. 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. PMID: 8504307.
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    154. 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. PMID: 8468044.
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    155. 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. PMID: 8099004.
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    156. 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. PMID: 1408766; PMCID: PMC334196.
    157. 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. PMID: 1321346.
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    158. Spielman RS, Nussbaum RL. Dual developments in diabetes. Nat Genet. 1992 May; 1(2):82-3. PMID: 1302013.
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    159. 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. PMID: 1550118; PMCID: PMC1682632.
    160. 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. PMID: 1549574; PMCID: PMC48611.
    161. 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. PMID: 1559703.
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    162. Okabe I, Attree O, Bailey LC, Nelson DL, Nussbaum R. 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. PMID: 1528013.
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    163. Schnur RE, Nussbaum R, Anson-Cartwright L, McDowell C, Worton RG, Musarella MA. Linkage analysis in X-linked ocular albinism. Genomics. 1991 Apr; 9(4):605-13. PMID: 1674724.
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    164. Montanaro V, Casamassimi A, D'Urso M, Yoon JY, Freije W, Schlessinger D, Muenke M, Nussbaum RL, Saccone S, Maugeri S. 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. PMID: 1990831; PMCID: PMC1683000.
    165. Reilly DS, Nussbaum R. 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. PMID: 2260578.
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    166. Schnur RE, Knowlton RG, Musarella MA, Muenke M, Nussbaum R. 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. PMID: 1979048.
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    167. Reilly DS, Lewis RA, Nussbaum R. Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. Genomics. 1990 Sep; 8(1):62-70. PMID: 2081601.
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    168. Wright AF, Nussbaum R, 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. PMID: 1976814; PMCID: PMC1017197.
    169. 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. PMID: 1971992; PMCID: PMC1683770.
    170. Neidich JA, Nussbaum R, Packer RJ, Emanuel BS, Puck JM. Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr. 1990 Jun; 116(6):911-7. PMID: 1971852.
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    171. Merry DE, Lesko JG, Siu V, Flintoff WF, Collins F, Lewis RA, Nussbaum R. DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. Genomics. 1990 Apr; 6(4):609-15. PMID: 2341150.
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    172. 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. PMID: 2106419.
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    173. Davies KE, Mandel JL, Monaco AP, Nussbaum R, Willard HF. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet. 1990; 55(1-4):254-313. PMID: 2073838.
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    174. Lewis RA, Nussbaum R, 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. PMID: 1969135.
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    175. Lee JT, Nussbaum R. 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. PMID: 2556444; PMCID: PMC304053.
    176. Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE, Nussbaum R. 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. PMID: 2573275; PMCID: PMC1683435.
    177. 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. PMID: 2491012; PMCID: PMC1683514.
    178. Smead DL, Nussbaum R, 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. PMID: 2571982; PMCID: PMC334861.
    179. Reilly DS, Sosnoski DM, Nussbaum R. Detection of translocation breakpoints by pulsed field gel analysis: practical considerations. Nucleic Acids Res. 1989 Jul 11; 17(13):5414. PMID: 2762143; PMCID: PMC318153.
    180. Skare JC, Grierson HL, Sullivan JL, Nussbaum R, 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. PMID: 2567696.
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    181. 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. PMID: 2500252.
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    182. Puck JM, Nussbaum R, 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. PMID: 2565084; PMCID: PMC1715634.
    183. Musarella MA, Anson-Cartwright L, Burghes A, Worton RG, Lesko JG, Nussbaum R. 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. PMID: 2568332.
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    184. Schnur RE, Ledbetter SA, Ledbetter DH, Merry DE, Nussbaum R. 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. PMID: 2563194; PMCID: PMC1715401.
    185. Mandel JL, Willard HF, Nussbaum R, Romeo G, Puck JM, Davies KE. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet. 1989; 51(1-4):384-437. PMID: 2676379.
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    186. Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum R, 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. PMID: 2914708.
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    187. 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. PMID: 2843770.
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    188. Maddalena A, Spence JE, O'Brien WE, Nussbaum RL. Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency. J Clin Invest. 1988 Oct; 82(4):1353-8. PMID: 3170748; PMCID: PMC442691.
    189. Sosnoski DM, Emanuel BS, Hawkins AL, van Tuinen P, Ledbetter DH, Nussbaum RL, Kaos FT, Schwartz E, Phillips D, Bennett JS. Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa. J Clin Invest. 1988 Jun; 81(6):1993-8. PMID: 2454952; PMCID: PMC442653.
    190. Reilly DS, Lewis RA, Ledbetter DH, Nussbaum R. Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment. Am J Hum Genet. 1988 May; 42(5):748-55. PMID: 2895982; PMCID: PMC1715172.
    191. Mandel JL, Willard HF, Nussbaum R, Davies KE, Romeo G. Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet. 1988; 49(1-3):107-28. PMID: 2904879.
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    192. 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. PMID: 3476958; PMCID: PMC299109.
    193. Puck JM, Nussbaum R, Conley ME. Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest. 1987 May; 79(5):1395-400. PMID: 2883199; PMCID: PMC424401.
    194. Lesko JG, Lewis RA, Nussbaum R. Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. Am J Hum Genet. 1987 Apr; 40(4):303-11. PMID: 2883887; PMCID: PMC1684091.
    195. van Tuinen P, Johnson KR, Ledbetter SA, Nussbaum R, 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. PMID: 2838781.
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    196. Silver DN, Lewis RA, Nussbaum R. Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. J Clin Invest. 1987 Jan; 79(1):282-5. PMID: 2878939; PMCID: PMC424043.
    197. Ledbetter DH, Ledbetter SA, Nussbaum RL. Implications of fragile X expression in normal males for the nature of the mutation. Nature. 1986 Nov 13-19; 324(6093):161-3. PMID: 3785381.
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    198. Lesko JG, Nussbaum R. RFLP locus DXS42 is proximal to the locus for hypoxanthine phosphoribosyltransferase. Am J Hum Genet. 1986 Nov; 39(5):669-70. PMID: 2878611; PMCID: PMC1684049.
    199. Nussbaum R, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. Am J Hum Genet. 1986 Feb; 38(2):149-58. PMID: 3004207; PMCID: PMC1684765.
    200. Ledbetter DH, Airhart SD, Nussbaum R. Caffeine enhances fragile (X) expression in somatic cell hybrids. Am J Med Genet. 1986 Jan-Feb; 23(1-2):445-55. PMID: 2937299.
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    201. Ledbetter DH, Airhart SD, Nussbaum R. 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. PMID: 2937298.
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    202. Nussbaum RL, Airhart SD, Ledbetter DH. Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis. Am J Med Genet. 1986 Jan-Feb; 23(1-2):715-21. PMID: 3456708.
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    203. Nussbaum RL, Ledbetter DH. Fragile X syndrome: a unique mutation in man. Annu Rev Genet. 1986; 20:109-45. PMID: 3545058.
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    204. Nussbaum R, 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. PMID: 2937300.
      View in: PubMed
    205. Nussbaum R, 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. PMID: 3002173; PMCID: PMC1684722.
    206. Cantú ES, Nussbaum R, 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. PMID: 2931977; PMCID: PMC1684697.
    207. 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. PMID: 3873469.
      View in: PubMed
    208. 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. PMID: 4034175.
      View in: PubMed
    209. Nussbaum R, 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. PMID: 2988333; PMCID: PMC1684597.
    210. 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. PMID: 3879117.
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    211. 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. PMID: 3858218.
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    212. 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. PMID: 6095463.
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    213. 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. PMID: 6089358.
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    214. 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. PMID: 6093508; PMCID: PMC1684515.
    215. Lewis RA, Crowder WE, Eierman LA, Nussbaum RL, Ferrell RE. The Gardner syndrome. Significance of ocular features. Ophthalmology. 1984 Aug; 91(8):916-25. PMID: 6493700.
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    216. 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. PMID: 6326485.
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    217. 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. PMID: 6321326.
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    218. 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. PMID: 6309910; PMCID: PMC1129241.
    219. 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. PMID: 6306659; PMCID: PMC394195.
    220. 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. PMID: 6885049.
      View in: PubMed
    221. Nussbaum RL, Caskey CT. Purification and characterization of hypoxanthine-guanine phosphoribosyltransferase from Saccharomyces cerevisiae. Biochemistry. 1981 Aug 4; 20(16):4584-90. PMID: 6170313.
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    222. 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. PMID: 7460369.
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    223. 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. PMID: 1018187.
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