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1. Sohocki, MM; Daiger, SP; Bowne, SJ; Rodriguez, JA; Northrup, H; Heckenlively, JR; Birch, DG; Mintz-Hittner, H; Ruiz, RS; Lewis, RA; Saperstein, DA; Sullivan, LS
   Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
   HUMAN MUTATION
   
   M.M. Sohocki et al., "Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies", HUM MUTAT, 17(1), 2001, pp. 42-51
2. Khare, L; Strizheva, GD; Bailey, JN; Au, KS; Northrup, H; Smith, M; Smalley, SL; Henske, EP
   A novel missense mutation in the GTPase activating protein homology regionof TSC2 in two large families with tuberous sclerosis complex
   JOURNAL OF MEDICAL GENETICS
   
   L. Khare et al., "A novel missense mutation in the GTPase activating protein homology regionof TSC2 in two large families with tuberous sclerosis complex", J MED GENET, 38(5), 2001, pp. 347-349
3. Arbiser, JL; Yeung, R; Weiss, SW; Arbiser, ZK; Amin, MB; Cohen, C; Frank, D; Mahajan, S; Herron, GS; Yang, JW; Onda, H; Zhang, HB; Bai, XH; Uhlmann, E; Loehr, A; Northrup, H; Au, P; Davis, I; Fisher, DE; Gutmann, DH
   The generation and characterization of a cell line derived from a sporadicrenal angiomyolipoma - Use of telomerase to obtain stable populations of cells from benign neoplasms
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4. Volcik, KA; Blanton, SH; Northrup, H
   Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations - and in utero viability
   AMERICAN JOURNAL OF HUMAN GENETICS
   
   K.A. Volcik et al., "Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations - and in utero viability", AM J HU GEN, 69(5), 2001, pp. 1150-1152
5. Volcik, KA; Blanton, SH; Tyerman, GH; Jong, ST; Rott, EJ; Page, TZ; Romaine, NK; Northrup, H
   Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics
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   K.A. Volcik et al., "Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics", AM J MED G, 95(1), 2000, pp. 21-27
6. Astrinidis, A; Khare, L; Carsillo, T; Smolarek, T; Au, KS; Northrup, H; Henske, EP
   Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis
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   A. Astrinidis et al., "Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis", J MED GENET, 37(1), 2000, pp. 55-57
7. Fletcher, JM; Dennis, M; Northrup, H
   Hydrocephalus
   PEDIATRIC NEUROPSYCHOLOGY
   
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8. Roach, ES; DiMario, FJ; Kandt, RS; Northrup, H
   Tuberous sclerosis consensus conference: Recommendations for diagnostic evaluation
   JOURNAL OF CHILD NEUROLOGY
   
   E.S. Roach et al., "Tuberous sclerosis consensus conference: Recommendations for diagnostic evaluation", J CHILD NEU, 14(6), 1999, pp. 401-407
9. Au, KS; Hebert, AA; Roach, ES; Northrup, H
   Complete inactivation of the TSC2 gene leads to formation of hamartomas
   AMERICAN JOURNAL OF HUMAN GENETICS
   
   K.S. Au et al., "Complete inactivation of the TSC2 gene leads to formation of hamartomas", AM J HU GEN, 65(6), 1999, pp. 1790-1795
10. Rose, VM; Au, KS; Pollom, G; Roach, ES; Prashner, HR; Northrup, H
    Germ-line mosaicism in tuberous sclerosis: How common?
    AMERICAN JOURNAL OF HUMAN GENETICS
    
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11. BEAUCHAMP RL; BANWELL A; MCNAMARA P; JACOBSEN M; HIGGINS E; NORTHRUP H; SHORT P; SIMS K; OZELIUS L; RAMESH V
    EXON SCANNING OF THE ENTIRE TSC2 GENE FOR GERMLINE MUTATIONS IN 40 UNRELATED PATIENTS WITH TUBEROUS SCLEROSIS
    Human mutation
    
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12. Roach, ES; Gomez, MR; Northrup, H
    Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
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13. AU KS; RODRIGUEZ JA; FINCH JL; VOLCIK KA; ROACH ES; DELGADO MR; RODRIGUEZ E; NORTHRUP H
    GERM-LINE MUTATIONAL ANALYSIS OF THE TSC2 GENE IN 90 TUBEROUS-SCLEROSIS PATIENTS
    American journal of human genetics
    
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14. AU KS; RODRIGUEZ JA; RODRIGUEZ E; DOBYNS WB; DELGADO MR; NORTHRUP H
    MUTATIONS AND POLYMORPHISMS IN THE TUBEROUS SCLEROSIS COMPLEX GENE ONCHROMOSOME-16
    Human mutation
    
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15. BAUMGARTNER JE; WHELESS JW; KULKARNI S; NORTHRUP H; AU KS; SMITH A; BROOKSHIR B
    ON THE SURGICAL-TREATMENT OF REFRACTORY EPILEPSY IN TUBEROUS SCLEROSIS COMPLEX
    Pediatric neurosurgery
    
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16. RODRIGUEZ JA; EVANS RL; DAIGER SP; NORTHRUP H
    MOLECULAR ANALYSIS OF THE HUMAN VITAMIN-D-BINDING-PROTEIN (GROUP-SPECIFIC COMPONENT, GC) IN TUBEROUS-SCLEROSIS-COMPLEX (TSC)
    Journal of Medical Genetics
    
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17. NORTHRUP H; RODRIGUEZ E; AU KS; BLANTON S; DOBYNS WB
    LINKAGE STUDIES OF WALKER-WARBURG SYNDROME (WWS) AND CHROMOSOME 9Q31-32
    Annals of Human Genetics
    
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18. ROSS VM; PRASHNER HR; AU KS; NORTHRUP H
    GONADAL MOSAICISM IN TUBEROUS SCLEROSIS
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19. ROBBINSFURMAN P; ELDER FFB; MASTROBATTISTA JM; NORTHRUP H; SHAPIRA SK
    PRENATAL-DIAGNOSIS OF DELETION 1Q36 SYNDROME
    American journal of human genetics
    
    P. Robbinsfurman et al., "PRENATAL-DIAGNOSIS OF DELETION 1Q36 SYNDROME", American journal of human genetics, 61(4), 1997, pp. 791-791
20. ROMAINE NK; JOHNSTON DA; NORTHRUP H
    A GENETIC AND ENVIRONMENTAL-STUDY OF SPINA-BIFIDA BY THE MULTISITE CLOSURE-MODEL
    American journal of human genetics
    
    N.K. Romaine et al., "A GENETIC AND ENVIRONMENTAL-STUDY OF SPINA-BIFIDA BY THE MULTISITE CLOSURE-MODEL", American journal of human genetics, 61(4), 1997, pp. 1211-1211
21. AU KS; ROACH ES; NORTHRUP H
    A SEVERE RENAL PHENOTYPE RESULTING FROM A TSC2 MUTATION WITHOUT INVOLVEMENT OF THE PKD1 GENE
    American journal of human genetics
    
    K.S. Au et al., "A SEVERE RENAL PHENOTYPE RESULTING FROM A TSC2 MUTATION WITHOUT INVOLVEMENT OF THE PKD1 GENE", American journal of human genetics, 61(4), 1997, pp. 1904-1904
22. SHAPRIA SK; MCCASKILL C; NORTHRUP H; SPIKES AS; ELDER FFB; SUTTON VR; KORENBERG JR; GREENBERG F; SHAFFER LG
    CHROMOSOME 1P36 DELETIONS - THE CLINICAL PHENOTYPE AND MOLECULAR CHARACTERIZATION OF A COMMON NEWLY DELINEATED SYNDROME
    American journal of human genetics
    
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23. DOBYNS WB; PATTON MA; STRATTON RF; MASTROBATTISTA JM; BLANTON SH; NORTHRUP H
    COBBLESTONE LISSENCEPHALY WITH NORMAL EYES AND MUSCLE
    Neuropediatrics
    
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24. MCKENNEY RR; ELDER FFB; GARCIA J; NORTHRUP H
    BRACHMANN-DE-LANGE-SYNDROME - AUTOSOMAL-DOMINANT INHERITANCE AND MALE-TO-MALE TRANSMISSION
    American journal of medical genetics
    
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25. AU KS; MURRELL J; BUCKLER A; BLANTON SH; NORTHRUP H
    REPORT OF A CRITICAL RECOMBINATION FURTHER NARROWING THE TSC1 REGION
    Journal of Medical Genetics
    
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26. HOU J; PARRISH J; LUDECKE HJ; SAPRU M; WANG Y; CHEN W; HILL A; SIEGELBARTELT J; NORTHRUP H; ELDER FFB; CHINAULT C; HORSTHEMKE B; WAGNER MJ; WELLS DE
    A 4-MEGABASE YAC CONTIG THAT SPANS THE LANGER-GIEDION SYNDROME REGIONON HUMAN-CHROMOSOME 8Q24.1 - USE IN REFINING THE LOCATION OF THE TRICHORHINOPHALANGEAL SYNDROME AND MULTIPLE EXOSTOSES GENES (TRPS1 AND EXT1)
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27. GREENSPAN DS; NORTHRUP H; AU KS; MCALLISTER KA; FRANCOMANO CA; WENSTRUP RJ; MARCHUK DA; KWIATKOWSKI DJ
    COL5A1 - FINE GENETIC-MAPPING AND EXCLUSION AS CANDIDATE GENE IN FAMILIES WITH NAIL-PATELLA SYNDROME, TUBEROUS SCLEROSIS-1, HEREDITARY HEMORRHAGIC TELANGIECTASIA, AND EHLERS-DANLOS SYNDROME TYPE-II
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29. AU KS; ROACH ES; NORTHRUP H
    MUTATIONS OF THE TUBEROUS SCLEROSIS COMPLEX-2 (TSC2) GENE IN AN ISOLATED ANGIOMYOLIPOMA
    American journal of human genetics
    
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30. DOBYNS WB; PATTON MA; STRATTON RF; MASTROBATTISTA JM; BLANTON SH; NORTHRUP H
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    CEPH CONSORTIUM MAP OF CHROMOSOME-9
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32. AU KS; BLANTON SH; KWIATKOWSKI DJ; NORTHRUP H
    FURTHER NARROWING OF THE REGION ON CHROMOSOME-9Q34 CONTAINING THE TSCGENE
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    American journal of human genetics
    
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