| Year |
Citation |
Score |
| 2015 |
Gitschier J. Your Data to Explore: An Interview with Anne Wojcicki. Plos Genetics. 11: e1005548. PMID 26469070 DOI: 10.1371/Journal.Pgen.1005548 |
0.314 |
|
| 2014 |
Schwartz J, Gitschier J. In pursuit of the gene: an interview with James Schwartz. Plos Genetics. 10: e1004308. PMID 24743644 DOI: 10.1371/Journal.Pgen.1004308 |
0.37 |
|
| 2013 |
Gitschier J. Problem Solved: An Interview with Sir Edwin Southern Plos Genetics. 9. PMID 23516371 DOI: 10.1371/Journal.Pgen.1003344 |
0.31 |
|
| 2011 |
Theusch E, Gitschier J. Absolute pitch twin study and segregation analysis. Twin Research and Human Genetics : the Official Journal of the International Society For Twin Studies. 14: 173-8. PMID 21425900 DOI: 10.1375/Twin.14.2.173 |
0.663 |
|
| 2009 |
Theusch E, Basu A, Gitschier J. Genome-wide study of families with absolute pitch reveals linkage to 8q24.21 and locus heterogeneity. American Journal of Human Genetics. 85: 112-9. PMID 19576568 DOI: 10.1016/J.Ajhg.2009.06.010 |
0.657 |
|
| 2009 |
Gitschier J. Inferential genotyping of Y chromosomes in Latter-Day Saints founders and comparison to Utah samples in the HapMap project. American Journal of Human Genetics. 84: 251-8. PMID 19215731 DOI: 10.1016/J.Ajhg.2009.01.018 |
0.324 |
|
| 2009 |
Gitschier J. The eureka moment: An interview with Sir Alec Jeffreys Plos Genetics. 5. DOI: 10.1371/Journal.Pgen.1000765 |
0.345 |
|
| 2008 |
Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, ... ... Gitschier J, et al. Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology. 71: 1402-9. PMID 18799783 DOI: 10.1212/01.Wnl.0000327094.67726.28 |
0.318 |
|
| 2008 |
Gitschier J. The exception that proves the rule: An interview with Jenny Graves Plos Genetics. 4. DOI: 10.1371/Journal.Pgen.1000063 |
0.303 |
|
| 2006 |
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, ... ... Gitschier J, et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nature Genetics. 38: 752-4. PMID 16783378 DOI: 10.1038/Ng1826 |
0.313 |
|
| 2005 |
Gitschier J. 2004 William Allan Award Address. Introductory speech for Louis Kunk. American Journal of Human Genetics. 76: 203-4. PMID 15714694 DOI: 10.1086/427957 |
0.344 |
|
| 2004 |
Johnson MA, Kuo YM, Westaway SK, Parker SM, Ching KH, Gitschier J, Hayflick SJ. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Annals of the New York Academy of Sciences. 1012: 282-98. PMID 15105273 DOI: 10.1196/Annals.1306.023 |
0.309 |
|
| 2003 |
Dufner-Beattie J, Wang F, Kuo YM, Gitschier J, Eide D, Andrews GK. The acrodermatitis enteropathica gene ZIP4 encodes a tissue-specific, zinc-regulated zinc transporter in mice. The Journal of Biological Chemistry. 278: 33474-81. PMID 12801924 DOI: 10.1074/Jbc.M305000200 |
0.336 |
|
| 2003 |
Hayflick SJ, Westaway SK, Levinson B, Zhou B, Johnson MA, Ching KH, Gitschier J. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. The New England Journal of Medicine. 348: 33-40. PMID 12510040 DOI: 10.1056/Nejmoa020817 |
0.322 |
|
| 2002 |
Ching KHL, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration Neurology. 58: 1673-1674. PMID 12058097 DOI: 10.1212/Wnl.58.11.1673 |
0.331 |
|
| 2002 |
Wang K, Zhou B, Kuo YM, Zemansky J, Gitschier J. A novel member of a zinc transporter family is defective in acrodermatitis enteropathica. American Journal of Human Genetics. 71: 66-73. PMID 12032886 DOI: 10.1086/341125 |
0.372 |
|
| 2001 |
Kuo YM, Zhou B, Cosco D, Gitschier J. The copper transporter CTR1 provides an essential function in mammalian embryonic development Proceedings of the National Academy of Sciences of the United States of America. 98: 6836-6841. PMID 11391004 DOI: 10.1073/Pnas.111057298 |
0.306 |
|
| 2001 |
Wang K, Pugh EW, Griffen S, Doheny KF, Mostafa WZ, Al-Aboosi MM, El-Shanti H, Gitschier J. Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3 American Journal of Human Genetics. 68: 1055-1060. PMID 11254458 DOI: 10.1086/319514 |
0.35 |
|
| 2000 |
Gitschier J. Under the Spell of Genes Cell. 101: 144-145. DOI: 10.1016/S0092-8674(00)80820-X |
0.333 |
|
| 1999 |
Huang L, Kuo YM, Gitschier J. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency Nature Genetics. 23: 329-332. PMID 10610180 DOI: 10.1038/15507 |
0.321 |
|
| 1997 |
Murata Y, Kodama H, Abe T, Ishida N, Nishimura M, Levinson B, Gitschier J, Packman S. Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease Pediatric Research. 42: 436-442. PMID 9380433 DOI: 10.1203/00006450-199710000-00003 |
0.359 |
|
| 1997 |
Huang L, Gitschier J. A novel gene involved in zinc transport is deficient in the lethal milk mouse Nature Genetics. 17: 292-297. PMID 9354792 DOI: 10.1038/Ng1197-292 |
0.359 |
|
| 1997 |
Levinson B, Packman S, Gitschier J. Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse Nature Genetics. 16: 224-225. PMID 9207785 DOI: 10.1038/Ng0797-224 |
0.334 |
|
| 1997 |
Zhou B, Gitschier J. hCTR1: A human gene for copper uptake identified by complementation in yeast Proceedings of the National Academy of Sciences of the United States of America. 94: 7481-7486. PMID 9207117 DOI: 10.1073/Pnas.94.14.7481 |
0.353 |
|
| 1996 |
Elder B, Kuo K, Gitschier J, Kim A, Chishti A, Metzenberg A. cDNA sequence and genomic structure of the murine p55 (Mpp1) gene Genomics. 38: 231-234. PMID 8954807 DOI: 10.1006/Geno.1996.0621 |
0.369 |
|
| 1996 |
Levinson B, Conant R, Schnur R, Das S, Packman S, Gitschier J. A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horm syndrome Human Molecular Genetics. 5: 1737-1742. PMID 8923001 DOI: 10.1093/Hmg/5.11.1737 |
0.381 |
|
| 1995 |
Antonarakis SE, Kazazian HH, Gitschier J, Hutter P, de Moerloose P, Morris MA. Molecular etiology of factor VIII deficiency in hemophilia A. Advances in Experimental Medicine and Biology. 386: 19-34. PMID 8851012 DOI: 10.1007/978-1-4613-0331-2_2 |
0.309 |
|
| 1994 |
Das S, Gitschier J. Identification of a TXREB pseudogene (TXREBP) located between the genes for p55 (MPP1) and G6PD on Xq28 Genomics. 21: 275-278. PMID 8088803 DOI: 10.1006/Geno.1994.1258 |
0.363 |
|
| 1994 |
Levinson B, Vulpe C, Elder B, Martin C, Verley F, Packman S, Gitschier J. The mottled gene is the mouse homologue of the Menkes disease gene Nature Genetics. 6: 369-373. PMID 8054976 DOI: 10.1038/Ng0494-369 |
0.371 |
|
| 1994 |
Tuddenham EG, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M, Bidichandani S, Connor JM, Hoyer LW, Yoshioka A. Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Research. 22: 3511-33. PMID 7937051 DOI: 10.1093/Nar/22.17.3511 |
0.362 |
|
| 1993 |
Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase Nature Genetics. 3: 7-13. PMID 8490659 DOI: 10.1038/Ng0193-7 |
0.361 |
|
| 1993 |
Elder B, Lakich D, Gitschier J. Sequence of the murine factor VIII cDNA Genomics. 16: 374-379. PMID 8314577 DOI: 10.1006/Geno.1993.1200 |
0.324 |
|
| 1993 |
Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A Nature Genetics. 5: 236-241. PMID 8275087 DOI: 10.1038/Ng1193-236 |
0.421 |
|
| 1993 |
Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Erratum: Corrigendum: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase Nature Genetics. 3: 273-273. DOI: 10.1038/Ng0393-273A |
0.33 |
|
| 1992 |
Levinson B, Bermingham JR, Metzenberg A, Kenwrick S, Chapman V, Gitschier J. Sequence of the human factor VIII-associated gene is conserved in mouse. Genomics. 13: 862-5. PMID 1639415 DOI: 10.1016/0888-7543(92)90170-W |
0.381 |
|
| 1992 |
Levinson B, Kenwrick S, Gamel P, Fisher K, Gitschier J. Evidence for a third transcript from the human factor VIII gene Genomics. 14: 585-589. PMID 1427887 DOI: 10.1016/S0888-7543(05)80155-7 |
0.342 |
|
| 1992 |
Gitschier J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DH, Vehar GA, Capon DJ, Lawn RM. Characterization of the human factor VIII gene. 1984 Biotechnology (Reading, Mass.). 24: 288-292. PMID 1422027 DOI: 10.1038/312326A0 |
0.364 |
|
| 1992 |
Faust CJ, Levinson B, Gitschier J, Herman GE. Extension of the physical map in the region of the mouse X chromosome homologous to human Xq28 and identification of an exception to conserved linkage Genomics. 13: 1289-1295. PMID 1354645 DOI: 10.1016/0888-7543(92)90048-W |
0.344 |
|
| 1992 |
Gitschier J, Wood WI. Sequence of the exon-containing regions of the human factor VIII gene Human Molecular Genetics. 1: 199-200. PMID 1303178 DOI: 10.1093/Hmg/1.3.199 |
0.352 |
|
| 1992 |
Kenwrick S, Levinson B, Taylor S, Shapiro A, Gitschier J. Isolation and sequence of two genes associated with a CPG Island 5′ of the factor VIII gene Human Molecular Genetics. 1: 179-186. PMID 1303175 DOI: 10.1093/Hmg/1.3.179 |
0.359 |
|
| 1992 |
Diamond C, Kogan S, Levinson B, Gitschier J. Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A. Human Mutation. 1: 248-57. PMID 1301932 DOI: 10.1002/Humu.1380010312 |
0.314 |
|
| 1992 |
Metzenberg AB, Gitschier J. The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3' to the factor VIII gene. Human Molecular Genetics. 1: 97-101. PMID 1301163 DOI: 10.1093/Hmg/1.2.97 |
0.376 |
|
| 1991 |
Gitschier J, Kogan S, Diamond C, Levinson B. Genetic basis of hemophilia A. Thrombosis and Haemostasis. 66: 37-9. PMID 1926049 DOI: 10.1055/S-0038-1646370 |
0.31 |
|
| 1991 |
Tuddenham EGD, Cooper DN, Gitschier J, Higuchi M, Hoyer LW, Yoshioka A, Peake IR, Schwaab R, Olek K, Kazazian HH, Lavergne JM, Giannelli F, Antonarakis SE. Haemophilia A: Database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene Nucleic Acids Research. 19: 4821-4833. PMID 1923751 DOI: 10.1093/Nar/19.18.4821 |
0.365 |
|
| 1991 |
Gitschier J. The molecular basis of hemophilia A Annals of the New York Academy of Sciences. 614: 89-96. PMID 1902642 DOI: 10.1111/J.1749-6632.1991.Tb43694.X |
0.336 |
|
| 1991 |
Kenwrick S, Bridge P, Lillicrap D, Lehesjoki AE, Bainton J, Gitschier J. A Taql polymorphism adjacent to the factor VIII gene (F8C) Nucleic Acids Research. 19: 2513. PMID 1675002 DOI: 10.1093/Nar/19.9.2513-A |
0.336 |
|
| 1990 |
Levinson B, Kenwrick S, Lakich D, Hammonds G, Gitschier J. A transcribed gene in an intron of the human factor VIII gene Genomics. 7: 1-11. PMID 2110545 DOI: 10.1016/0888-7543(90)90512-S |
0.378 |
|
| 1990 |
Kogan S, Gitschier J. Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis Proceedings of the National Academy of Sciences of the United States of America. 87: 2092-2096. PMID 2107542 DOI: 10.1073/Pnas.87.6.2092 |
0.37 |
|
| 1988 |
Gitschier J, Kogan S, Levinson B, Tuddenham EGD. Mutations of factor VIII cleavage sites in hemophilia A Blood. 72: 1022-1028. PMID 3137981 DOI: 10.1182/Blood.V72.3.1022.Bloodjournal7231022 |
0.331 |
|
| 1987 |
Kogan SC, Doherty M, Gitschier J. An improved method for prenatal diaganosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A New England Journal of Medicine. 317: 985-990. PMID 3657865 DOI: 10.1056/Nejm198710153171603 |
0.368 |
|
| 1987 |
Levinson B, Janco R, Phillips J, Gitschier J. A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences Nucleic Acids Research. 15: 9797-9805. PMID 3122181 DOI: 10.1093/Nar/15.23.9797 |
0.343 |
|
| 1986 |
Lawn RM, Wood WI, Gitschier J, Wion KL, Eaton D, Vehar GA, Tuddenham EG. Cloned factor VIII and the molecular genetics of hemophilia Cold Spring Harbor Symposia On Quantitative Biology. 51: 365-369. PMID 3107875 DOI: 10.1101/Sqb.1986.051.01.044 |
0.331 |
|
| 1986 |
Gitschier J, Wood WI, Shuman MA, Lawn RM. Identification of a missense mutation in the factor VIII gene of a mild hemophiliac Science. 232: 1415-1416. PMID 3012775 DOI: 10.1126/Science.3012775 |
0.37 |
|
| 1985 |
Gitschier J, Wood WI, Goralka TM, Chen EY, Lawn RM, Tuddenham EGD, Shuman MA. Detection and sequence of mutations in the factor VIII gene of haemophiliacs Nature. 315: 427-430. PMID 2987704 DOI: 10.1038/315427A0 |
0.422 |
|
| 1985 |
Gitschier J, Drayna D, Tuddenham EG, White RL, Lawn RM. Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature. 314: 738-40. PMID 2986011 DOI: 10.1038/314738A0 |
0.415 |
|
| 1985 |
Gitschier J, Lawn RM, Rotblat F, Goldman E, Tuddenham EG. Antenatal diagnosis and carrier detection of haemophilia A using factor VIII gene probe. Lancet. 1: 1093-4. PMID 2860301 DOI: 10.1016/S0140-6736(85)92388-8 |
0.323 |
|
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