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1. Rosenberg, MJ; Killoran, C; Dziadzio, L; Chang, S; Stone, DL; Meck, J; Aughton, D; Bird, LM; Bodurtha, J; Cassidy, SB; Graham, JM; Grix, A; Guttmacher, AE; Hudgins, L; Kozma, C; Michaelis, RC; Pauli, R; Peters, KF; Rosenbaum, KN; Tifft, CJ; Wargowski, D; Williams, MS; Biesecker, LG
   Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
   HUMAN GENETICS
   
   M.J. Rosenberg et al., "Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations", HUM GENET, 109(3), 2001, pp. 311-318
2. Jeyakumar, M; Norflus, F; Tifft, CJ; Cortina-Borja, M; Butters, TD; Proia, RL; Perry, VH; Dwek, RA; Platt, FM
   Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation
   BLOOD
   
   M. Jeyakumar et al., "Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation", BLOOD, 97(1), 2001, pp. 327-329
3. Tifft, CJ; Proia, RL
   Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases
   GLYCOBIOLOGY
   
   C.J. Tifft e R.L. Proia, "Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases", GLYCOBIOLOG, 10(12), 2000, pp. 1249-1258
4. Lacbawan, F; Tifft, CJ; Luban, NLC; Schmandt, SM; Guerrera, M; Weinstein, S; Pennybacker, M; Wong, LJC
   Clinical heterogeneity in mitochondrial DNA deletion disorders: A diagnostic challenge of Pearson syndrome
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   F. Lacbawan et al., "Clinical heterogeneity in mitochondrial DNA deletion disorders: A diagnostic challenge of Pearson syndrome", AM J MED G, 95(3), 2000, pp. 266-268
5. Wada, R; Tifft, CJ; Proia, RL
   Microglial activation precedes acute neurodegeneration in Sandhoff diseaseand is suppressed by bone marrow transplantation
   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
   
   R. Wada et al., "Microglial activation precedes acute neurodegeneration in Sandhoff diseaseand is suppressed by bone marrow transplantation", P NAS US, 97(20), 2000, pp. 10954-10959
6. Rosenberg, MJ; Vaske, D; Killoran, CE; Ning, Y; Wargowski, D; Hudgins, L; Tifft, CJ; Meck, J; Blancato, JK; Rosenbaum, K; Pauli, RM; Weber, J; Biesecker, LG
   Detection of chromosomal aberrations by a whole-genome microsatellite screen
   AMERICAN JOURNAL OF HUMAN GENETICS
   
   M.J. Rosenberg et al., "Detection of chromosomal aberrations by a whole-genome microsatellite screen", AM J HU GEN, 66(2), 2000, pp. 419-427
7. Oya, Y; Proia, RL; Norflus, F; Tifft, CJ; Langaman, C; Suzuki, K
   Distribution of enzyme-bearing cells in GM(2) gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation
   ACTA NEUROPATHOLOGICA
   
   Y. Oya et al., "Distribution of enzyme-bearing cells in GM(2) gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation", ACT NEUROP, 99(2), 2000, pp. 161-168
8. Glass, RBJ; Tifft, CJ
   Radiologic changes in infancy in McKusick cartilage hair hypoplasia
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   R.B.J. Glass e C.J. Tifft, "Radiologic changes in infancy in McKusick cartilage hair hypoplasia", AM J MED G, 86(4), 1999, pp. 312-315
9. Shotelersuk, V; Tifft, CJ; Vacha, S; Peters, KF; Biesecker, LG
   Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls
   AMERICAN JOURNAL OF MEDICAL GENETICS
   
   V. Shotelersuk et al., "Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls", AM J MED G, 86(3), 1999, pp. 269-273
10. NORFLUS F; TIFFT CJ; MCDONALD MP; GOLDSTEIN G; CRAWLEY JN; HOFFMANN A; SANDHOFF K; SUZUKI K; PROIA RL
    BONE-MARROW TRANSPLANTATION PROLONGS LIFE-SPAN AND AMELIORATES NEUROLOGIC MANIFESTATIONS IN SANDHOFF DISEASE MICE
    The Journal of clinical investigation
    
    F. Norflus et al., "BONE-MARROW TRANSPLANTATION PROLONGS LIFE-SPAN AND AMELIORATES NEUROLOGIC MANIFESTATIONS IN SANDHOFF DISEASE MICE", The Journal of clinical investigation, 101(9), 1998, pp. 1881-1888
11. BECKER JA; VLACH J; RABEN N; NAGARAJU K; ADAMS EM; HERMANS MM; REUSER AJJ; BROOKS SS; TIFFT CJ; HIRSCHHORN R; HUIE ML; NICOLINO M; PLOTZ PH
    THE AFRICAN ORIGIN OF THE COMMON MUTATION IN AFRICAN-AMERICAN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II
    American journal of human genetics
    
    J.A. Becker et al., "THE AFRICAN ORIGIN OF THE COMMON MUTATION IN AFRICAN-AMERICAN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II", American journal of human genetics, 62(4), 1998, pp. 991-994
12. BEATY TH; MAESTRI NE; HETMANSKI JB; WYSZYNSKI DF; VANDERKOLK CA; SIMPSON JC; MCINTOSH I; SMITH EA; ZEIGER JS; RAYMOND GV; PANNY SR; TIFFT CJ; LEWANDA AF; CRISTION CA; WULFSBERG EA
    TESTING FOR INTERACTION BETWEEN MATERNAL SMOKING AND TGFA GENOTYPE AMONG ORAL CLEFT CASES BORN IN MARYLAND 1992-1996
    The Cleft palate-craniofacial journal
    
    T.H. Beaty et al., "TESTING FOR INTERACTION BETWEEN MATERNAL SMOKING AND TGFA GENOTYPE AMONG ORAL CLEFT CASES BORN IN MARYLAND 1992-1996", The Cleft palate-craniofacial journal, 34(5), 1997, pp. 447-454
13. TIFFT CJ; PROIA RL
    THE BETA-HEXOSAMINIDASE DEFICIENCY DISORDERS - DEVELOPMENT OF A CLINICAL PARADIGM IN THE MOUSE
    Annals of medicine
    
    C.J. Tifft e R.L. Proia, "THE BETA-HEXOSAMINIDASE DEFICIENCY DISORDERS - DEVELOPMENT OF A CLINICAL PARADIGM IN THE MOUSE", Annals of medicine, 29(6), 1997, pp. 557-561
14. SAMANGOSPROUSE C; VEZINA LG; BRASSEUX C; TILLMAN S; TIFFT CJ
    CRANIAL MAGNETIC-RESONANCE FINDINGS AND THE NEURODEVELOPMENTAL PERFORMANCE IN THE YOUNG-CHILD WITH NEUROFIBROMATOSIS TYPE-1
    American journal of human genetics
    
    C. Samangosprouse et al., "CRANIAL MAGNETIC-RESONANCE FINDINGS AND THE NEURODEVELOPMENTAL PERFORMANCE IN THE YOUNG-CHILD WITH NEUROFIBROMATOSIS TYPE-1", American journal of human genetics, 61(4), 1997, pp. 178-178
15. GROPMAN AL; SAMANGOSPROUSE C; VEZINA LG; TIFFT CJ
    CONGENITAL BILATERAL PERISYLVIAN SYNDROME (CBPS) IN A CHILD WITH 47,XYY KARYOTYPE
    American journal of human genetics
    
    A.L. Gropman et al., "CONGENITAL BILATERAL PERISYLVIAN SYNDROME (CBPS) IN A CHILD WITH 47,XYY KARYOTYPE", American journal of human genetics, 61(4), 1997, pp. 2156-2156
16. SANGO K; MCDONALD MP; CRAWLEY JN; MACK ML; TIFFT CJ; SKOP E; STARR CM; HOFFMANN A; SANDHOFF K; SUZUKI K; PROIA RL
    MICE LACKING BOTH SUBUNITS OF LYSOSOMAL BETA-HEXOSAMINIDASE DISPLAY GANGLIOSIDOSIS AND MUCOPOLYSACCHARIDOSIS
    Nature genetics
    
    K. Sango et al., "MICE LACKING BOTH SUBUNITS OF LYSOSOMAL BETA-HEXOSAMINIDASE DISPLAY GANGLIOSIDOSIS AND MUCOPOLYSACCHARIDOSIS", Nature genetics, 14(3), 1996, pp. 348-352
17. PENNYBACKER M; LIESSEM B; MOCZALL H; TIFFT CJ; SANDHOFF K; PROIA RL
    IDENTIFICATION OF DOMAINS IN HUMAN BETA-HEXOSAMINIDASE THAT DETERMINESUBSTRATE-SPECIFICITY
    The Journal of biological chemistry
    
    M. Pennybacker et al., "IDENTIFICATION OF DOMAINS IN HUMAN BETA-HEXOSAMINIDASE THAT DETERMINESUBSTRATE-SPECIFICITY", The Journal of biological chemistry, 271(29), 1996, pp. 17377-17382
18. COHEN MS; SAMANGOSPROUSE C; STERN HJ; CUSTER DA; VAUGHT DR; SAAL HM; TIFFT CJ; ROSENBAUM KN
    NEURODEVELOPMENTAL PROFILE OF INFANTS AND TODDLERS WITH OCULO-AURICULO-VERTEBRAL SPECTRUM AND THE CORRELATION OF PROGNOSIS WITH PHYSICAL FINDINGS
    American journal of medical genetics
    
    M.S. Cohen et al., "NEURODEVELOPMENTAL PROFILE OF INFANTS AND TODDLERS WITH OCULO-AURICULO-VERTEBRAL SPECTRUM AND THE CORRELATION OF PROGNOSIS WITH PHYSICAL FINDINGS", American journal of medical genetics, 60(6), 1995, pp. 535-540
19. SAAL HM; SCHORRY EK; LOVELL AM; BALL W; EGELHOFF J; KOCH B; SAMANGOSPROUSE A; ROSENBAUM KN; STERN HJ; TIFFT CJ; VEZINA LG
    RACIAL-DIFFERENCES IN THE PREVALENCE OF OPTIC-NERVE GLIOMAS IN NEUROFIBROMATOSIS TYPE
    American journal of human genetics
    
    H.M. Saal et al., "RACIAL-DIFFERENCES IN THE PREVALENCE OF OPTIC-NERVE GLIOMAS IN NEUROFIBROMATOSIS TYPE", American journal of human genetics, 57(4), 1995, pp. 280-280
20. COHEN MS; SAMANGOSPROUSE CA; STERN HJ; ROSENBAUM KN; TIFFT CJ
    MACROCEPHALY IN NEUROFIBROMATOSIS TYPE-1
    American journal of human genetics
    
    M.S. Cohen et al., "MACROCEPHALY IN NEUROFIBROMATOSIS TYPE-1", American journal of human genetics, 57(4), 1995, pp. 465-465
21. MCLEAN SD; STERN HJ; ROSENBAUM KN; TIFFT CJ; SAAL HM
    THE NATURAL-HISTORY OF CAFE-AU-LAIT SPOTS IN YOUNG-CHILDREN WITH NEUROFIBROMATOSIS-1
    American journal of human genetics
    
    S.D. Mclean et al., "THE NATURAL-HISTORY OF CAFE-AU-LAIT SPOTS IN YOUNG-CHILDREN WITH NEUROFIBROMATOSIS-1", American journal of human genetics, 53(3), 1993, pp. 474-474
22. JOHNSON RC; TIFFT CJ; STANLEY W
    A DE-NOVO PARACENTRIC INVERSION, INV(11)(P13P15.5) IN A CHILD WITH ISOLATED ANIRIDIA
    American journal of human genetics
    
    R.C. Johnson et al., "A DE-NOVO PARACENTRIC INVERSION, INV(11)(P13P15.5) IN A CHILD WITH ISOLATED ANIRIDIA", American journal of human genetics, 53(3), 1993, pp. 566-566