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JJ Wasmuth

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JJ Wasmuth
Overview of somatic cell hybrid mapping.
P L Tavormina; GA Bellus; MK Webster; Michael Bamshad; A E Fraley; Iain McIntosh; J Szabo; W Jiang; Ethylin Jabs; William R Wilcox; JJ Wasmuth; Daniel J Donoghue; Leslie Michels Thompson; Clair A Francomano
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
William R Wilcox; P L Tavormina; Deborah Krakow; H Kitoh; Ralph S Lachman; JJ Wasmuth; Leslie Michels Thompson; David L Rimoin
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.

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All Publications

2001: JJ Wasmuth
Overview of somatic cell hybrid mapping.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2001;Chapter 3():Unit 3.1.
1999: P L Tavormina; GA Bellus; MK Webster; Michael Bamshad; A E Fraley; Iain McIntosh; J Szabo; W Jiang; Ethylin Jabs; William R Wilcox; JJ Wasmuth; Daniel J Donoghue; Leslie Michels Thompson; Clair A Francomano
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
American journal of human genetics 1999;64(3):722-31.
1998: William R Wilcox; P L Tavormina; Deborah Krakow; H Kitoh; Ralph S Lachman; JJ Wasmuth; Leslie Michels Thompson; David L Rimoin
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
American journal of medical genetics 1998;78(3):274-81.
1997: JD McPherson; B Apostol; C B Wagner-McPherson; S Hakim; R G Del Mastro; N Aziz; E Baer; G Gonzales; M C Krane; R Markovich; Peter S Masny; M Ortega; J Vu; M Vujicic; D M Church; A Segal; D L Grady; Robert K Moyzis; M Anne Spence; Michael Lovett; JJ Wasmuth
A radiation hybrid map of human chromosome 5 with integration of cytogenetic, genetic, and transcript maps.
Genome research 1997;7(9):897-909.
1997: D M Church; J Yang; M Bocian; R Shiang; JJ Wasmuth
A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p.
Genome research 1997;7(8):787-801.
1997: Leslie Michels Thompson; Simona Raffioni; JJ Wasmuth; Ralph A Bradshaw
Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells.
Molecular and cellular biology 1997;17(7):4169-77.
1996: Sara T Winokur; U Bengtsson; J C Vargas; JJ Wasmuth; M R Altherr; B Weiffenbach; S J Jacobsen
The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region.
Human molecular genetics 1996;5(10):1567-75.
1996: A J Gladwin; Jill Dixon; S K Loftus; S Edwards; JJ Wasmuth; Raoul Hennekam; Michael J Dixon
Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene.
Human molecular genetics 1996;5(10):1533-8.
1996: J A Warrington; JJ Wasmuth
A contiguous high-resolution radiation hybrid map of 44 loci from the distal portion of the long arm of human chromosome 5.
Genome research 1996;6(7):628-32.
1996: T V Feldblyum; D R Maglott; J D McPherson; M Adams; B L Apostol; A S Durkin; JJ Wasmuth; William C Nierman
Regional assignment and tissue expression of twenty-three expressed sequence tags (ESTs) from human chromosome 5.
Genomics 1996;33(1):128-30.
1996: A J Gladwin; Jill Dixon; S K Loftus; JJ Wasmuth; Michael J Dixon
Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: exclusion from a causative role in the pathogenesis of Treacher Collins syndrome.
Genomics 1996;32(3):471-3.
1996: DL Grady; D L Robinson; M Gersh; E Nickerson; J McPherson; JJ Wasmuth; J Overhauser; LL Deaven; R K Moyzis
The generation and regional localization of 303 new chromosome 5 sequence-tagged sites.
Genomics 1996;32(1):91-6.
1996: S K Loftus; Jill Dixon; K Koprivnikar; Michael J Dixon; JJ Wasmuth
Transcriptional map of the Treacher Collins candidate gene region.
Genome research 1996;6(1):26-34.
1995: AP Spicer; M L Roller; Sally A Camper; J D McPherson; JJ Wasmuth; S Hakim; C Wang; E A Turley; John A McDonald
The human and mouse receptors for hyaluronan-mediated motility, RHAMM, genes (HMMR) map to human chromosome 5q33.2-qter and mouse chromosome 11.
Genomics 1995;30(1):115-7.
1995: P L Tavormina; David L Rimoin; Daniel H Cohn; Y Z Zhu; R Shiang; JJ Wasmuth
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
Human molecular genetics 1995;4(11):2175-7.
1995: R G Del Mastro; L Wang; AD Simmons; T D Gallardo; GA Clines; J A Ashley; C J Hilliard; JJ Wasmuth; J D McPherson; Michael Lovett
Human chromosome-specific cDNA libraries: new tools for gene identification and genome annotation.
Genome research 1995;5(2):185-94.
1995: C A Bonner; S K Loftus; JJ Wasmuth
Isolation, characterization, and precise physical localization of human CDX1, a caudal-type homeobox gene.
Genomics 1995;28(2):206-11.
1995: R Shiang; S G Ryan; Y Z Zhu; T J Fielder; R J Allen; A Fryer; S Yamashita; P O'Connell; JJ Wasmuth
Mutational analysis of familial and sporadic hyperekplexia.
Annals of neurology 1995;38(1):85-91.
1995: D M Church; U Bengtsson; Kirsten Vang Nielsen; JJ Wasmuth; E Niebuhr
Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.
American journal of human genetics 1995;56(5):1162-72.
1995: Jill Dixon; S K Loftus; A J Gladwin; P J Scambler; JJ Wasmuth; Michael J Dixon
Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1.
Genomics 1995;26(2):239-44.
1995: William Abrams; R I Ma; Umberto Kucich; MM Bashir; Sylvia Decker; P Tsipouras; J D McPherson; JJ Wasmuth; Joel Rosenbloom
Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2.
Genomics 1995;26(1):47-54.
1995: P L Tavormina; R Shiang; Leslie Michels Thompson; Y Z Zhu; Douglas J Wilkin; Ralph S Lachman; William R Wilcox; David L Rimoin; Daniel H Cohn; JJ Wasmuth
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
Nature genetics 1995;9(3):321-8.
1995: N C Vamvakopoulos; T O Sioutopoulou; S A Durkin; William C Nierman; JJ Wasmuth; J D McPherson
Mapping the human corticotropin releasing hormone binding protein gene (CRHBP) to the long arm of chromosome 5 (5q11.2-q13.3).
Genomics 1995;25(1):325-7.
1995: T G Thompson; CJ DiDonato; Louise R Simard; S E Ingraham; Arthur H M Burghes; Thomas Crawford; Camille Rochette; Jerry R Mendell; JJ Wasmuth
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients.
Nature genetics 1995;9(1):56-62.
1994: J D Carpten; CJ DiDonato; S E Ingraham; C Wagner-McPherson; B W Nieuwenhuijsen; JJ Wasmuth; Arthur H M Burghes
A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region.
Genomics 1994;24(2):351-6.
1994: U Bengtsson; M R Altherr; JJ Wasmuth; Sara T Winokur
High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q.
Human molecular genetics 1994;3(10):1801-5.
1994: Jill Dixon; A J Gladwin; S K Loftus; J H Riley; Rahat Perveen; JJ Wasmuth; R Anand; Michael J Dixon
A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.
American journal of human genetics 1994;55(2):372-8.
1994: R Shiang; Leslie Michels Thompson; Y Z Zhu; D M Church; T J Fielder; M Bocian; Sara T Winokur; JJ Wasmuth
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
Cell 1994;78(2):335-42.
1994: S G Ryan; Marion Buckwalter; Joseph W Lynch; C A Handford; L Segura; R Shiang; JJ Wasmuth; Sally A Camper; P Schofield; P O'Connell
A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.
Nature genetics 1994;7(2):131-5.
1994: Sara T Winokur; U Bengtsson; J Feddersen; K D Mathews; B Weiffenbach; H Bailey; R P Markovich; Jeffrey C Murray; JJ Wasmuth; M R Altherr
The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 1994;2(3):225-34.
1994: J D McPherson; JJ Wasmuth; G Kurys; R Pietruszko
Human aldehyde dehydrogenase: chromosomal assignment of the gene for the isozyme that metabolizes gamma-aminobutyraldehyde.
Human genetics 1994;93(2):211-2.
1994: J Overhauser; X Huang; M Gersh; W Wilson; J McMahon; U Bengtsson; K Rojas; M Meyer; JJ Wasmuth
Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome.
Human molecular genetics 1994;3(2):247-52.
1994: J D McPherson; Ronald A Morton; C M Ewing; JJ Wasmuth; J Overhauser; A Nagafuchi; S Tsukita; William B Isaacs
Assignment of the human alpha-catenin gene (CTNNA1) to chromosome 5q21-q22.
Genomics 1994;19(1):188-90.
1994: S K Loftus; R Shiang; J A Warrington; U Bengtsson; J D McPherson; JJ Wasmuth
Genes encoding adrenergic receptors are not clustered on the long arm of human chromosome 5.
Cytogenetics and cell genetics 1994;67(2):69-74.
1993: R Shiang; S G Ryan; Y Z Zhu; A F Hahn; P O'Connell; JJ Wasmuth
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.
Nature genetics 1993;5(4):351-8.
1993: C C Clark; I Cohen; I Eichstetter; Linda Cannizzaro; J D McPherson; JJ Wasmuth; Renato V Iozzo
Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21.
Genomics 1993;18(2):249-60.
1993: S K Loftus; S J Edwards; T Scherpbier-Heddema; K H Buetow; JJ Wasmuth; Michael J Dixon
A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q.
Human molecular genetics 1993;2(11):1785-92.
1993: Cisca Wijmenga; Sara T Winokur; George W Padberg; M I Skraastad; M R Altherr; JJ Wasmuth; Jeffrey C Murray; Marten H Hofker; Rune R Frants
The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.
Human genetics 1993;92(2):198-203.
1993: T G Thompson; K E Morrison; P Kleyn; U Bengtsson; T Conrad Gilliam; K E Davies; JJ Wasmuth; J D McPherson
High resolution physical map of the region surrounding the spinal muscular atrophy gene.
Human molecular genetics 1993;2(8):1169-76.
1993: D L Saltman; G M Dolganov; J A Warrington; JJ Wasmuth; Michael Lovett
A physical map of 15 loci on human chromosome 5q23-q33 by two-color fluorescence in situ hybridization.
Genomics 1993;16(3):726-32.
1993: Y Haraguchi; A B Chung; Antonio Torroni; Georges Stepien; J M Shoffner; JJ Wasmuth; D A Costigan; M Polak; M R Altherr; Sara T Winokur
Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus.
Genomics 1993;16(2):479-85.
1993: R Bernstein; M E Bocian; M J Cain; U Bengtsson; JJ Wasmuth
Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization.
American journal of medical genetics 1993;46(1):77-82.
1993: M E Cruzen; U Bengtsson; J McMahon; JJ Wasmuth; S M Arfin
Assignment of the cysteinyl-tRNA synthetase gene (CARS) to 11p15.5.
Genomics 1993;15(3):692-3.
1993: J A Warrington; JJ Wasmuth
Sublocalization of seven human simple sequence repeat polymorphic markers: D5S349, D5S351, and D5S355 to 5q11.2-q13.1, D5S350 to 5p13.1-p14, D5S352 to 5q31.2-q33.1, D5S353 to 5q33.2-qter, and D5S354 to 5q13.2-q15.
Genomics 1993;15(1):241-2.
1992: Renato V Iozzo; M F Naso; Linda Cannizzaro; JJ Wasmuth; J D McPherson
Mapping of the versican proteoglycan gene (CSPG2) to the long arm of human chromosome 5 (5q12-5q14).
Genomics 1992;14(4):845-51.
1992: W Sun; J D McPherson; D Q Hoang; JJ Wasmuth; Glen A Evans; Mauricio Montal
Mapping of a human brain voltage-gated calcium channel to human chromosome 12p13-pter.
Genomics 1992;14(4):1092-4.
1992: S G Ryan; Michael J Dixon; M A Nigro; K A Kelts; O N Markand; J C Terry; R Shiang; JJ Wasmuth; P O'Connell
Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.
American journal of human genetics 1992;51(6):1334-43.
1992: M R Altherr; James Gusella; JJ Wasmuth; M A Kummer; S W McKercher; V P Johnson
Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome.
American journal of medical genetics 1992;44(4):449-54.
1992: Stephan Grissmer; S Ghanshani; B Dethlefs; J D McPherson; JJ Wasmuth; George A Gutman; Michael D Cahalan; K George Chandy
The Shaw-related potassium channel gene, Kv3.1, on human chromosome 11, encodes the type l K+ channel in T cells.
The Journal of biological chemistry 1992;267(29):20971-9.
1992: K A Mills; K H Buetow; Y Xu; J L Weber; M R Altherr; JJ Wasmuth; Jeffrey C Murray
Genetic and physical maps of human chromosome 4 based on dinucleotide repeats.
Genomics 1992;14(2):209-19.
1992: C M Ahmed; D H Ware; S C Lee; C D Patten; Antonio Ferrer-Montiel; AF Schinder; J D McPherson; C B Wagner-McPherson; JJ Wasmuth; Glen A Evans
Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(17):8220-4.
1992: M R Altherr; S Plummer; Gillian P Bates; Marcy E MacDonald; S Taylor; H Lehrach; A M Frischauf; James Gusella; M Boehnke; JJ Wasmuth
Radiation hybrid map spanning the Huntington disease gene region of chromosome 4.
Genomics 1992;13(4):1040-6.
1992: A S Wilcox; J A Warrington; K Gardiner; R Berger; P Whiting; M R Altherr; JJ Wasmuth; D Patterson; James M Sikela
Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(13):5857-61.
1992: J O McNamara; J H Eubanks; J D McPherson; JJ Wasmuth; Glen A Evans; Stephen F Heinemann
Chromosomal localization of human glutamate receptor genes.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1992;12(7):2555-62.
1992: L J Scherer; J D McPherson; JJ Wasmuth; J Lawrence Marsh
Human dopa decarboxylase: localization to human chromosome 7p11 and characterization of hepatic cDNAs.
Genomics 1992;13(2):469-71.
1992: Susanne Liptay; Roland M Schmid; N D Perkins; Paul Meltzer; M R Altherr; J D McPherson; JJ Wasmuth; Gary Nabel
Related subunits of NF-kappa B map to two distinct loci associated with translocations in leukemia, NFKB1 and NFKB2.
Genomics 1992;13(2):287-92.
1992: M R Altherr; JJ Wasmuth; Michael F Seldin; J H Nadeau; Wolfgang Baehr; Steven J Pittler
Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human: tight linkage to the Huntington disease region (4p16.3).
Genomics 1992;12(4):750-4.
1992: J H Eubanks; M Altherr; C Wagner-McPherson; J D McPherson; JJ Wasmuth; Glen A Evans
Localization of the D5 dopamine receptor gene to human chromosome 4p15.1-p15.3, centromeric to the Huntington's disease locus.
Genomics 1992;12(3):510-6.
1992: S Ghanshani; M Pak; J D McPherson; M Strong; B Dethlefs; JJ Wasmuth; Lawrence Salkoff; George A Gutman; K George Chandy
Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1.
Genomics 1992;12(2):190-6.
1991: M R Altherr; U Bengtsson; F F Elder; David Ledbetter; JJ Wasmuth; M E McDonald; James Gusella; F Greenberg
Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.
American journal of human genetics 1991;49(6):1235-42.
1991: Leslie Michels Thompson; S Plummer; Martin Schalling; M R Altherr; James Gusella; D E Housman; JJ Wasmuth
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.
Genomics 1991;11(4):1133-42.
1991: J A Warrington; L V Hall; L M Hinton; J N Miller; JJ Wasmuth; Michael Lovett
Radiation hybrid map of 13 loci on the long arm of chromosome 5.
Genomics 1991;11(3):701-8.
1991: B Weiffenbach; K Falls; A Bricker; L Hall; J McMahon; JJ Wasmuth; V Funanage; H Donis-Keller
A genetic linkage map of human chromosome 5 with 60 RFLP loci.
Genomics 1991;10(1):173-85.
1991: K H Buetow; R Shiang; P Yang; Y Nakamura; G M Lathrop; Raymond White; JJ Wasmuth; S Wood; L D Berdahl; N J Leysens
A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates.
American journal of human genetics 1991;48(5):911-25.
1991: B Weiffenbach; M Altherr; JJ Wasmuth
Single copy probe CRI-L114 (D4S110) maps to 4p16.1.
Nucleic acids research 1991;19(7):1728.
1991: B Weiffenbach; M Altherr; JJ Wasmuth
Cosmid probe CRI-C47 (D4S117) maps to 4p16.1.
Nucleic acids research 1991;19(7):1728.
1991: M R Altherr; JJ Wasmuth; Y Nakamura; Raymond White
A highly polymorphic VNTR locus on the long arm of chromosome 4.
Nucleic acids research 1991;19(5):1168.
1991: J A Tabas; M Zasloff; JJ Wasmuth; Beverly S Emanuel; M R Altherr; J D McPherson; J M Wozney; Frederick S Kaplan
Bone morphogenetic protein: chromosomal localization of human genes for BMP1, BMP2A, and BMP3.
Genomics 1991;9(2):283-9.
1990: Stephan Grissmer; B Dethlefs; JJ Wasmuth; Alan L Goldin; George A Gutman; Michael D Cahalan; K George Chandy
Expression and chromosomal localization of a lymphocyte K+ channel gene.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(23):9411-5.
1990: J Overhauser; J McMahon; S Oberlender; M E Carlin; E Niebuhr; JJ Wasmuth; J Lee-Chen
Parental origin of chromosome 5 deletions in the cri-du-chat syndrome.
American journal of medical genetics 1990;37(1):83-6.
1989: M R Altherr; B Smith; M E MacDonald; L Hall; JJ Wasmuth
Isolation of a novel mildly repetitive DNA sequence that is predominantly located at the terminus of the short arm of chromosome 4 near the Huntington disease gene.
Genomics 1989;5(3):581-8.
1989: T E Gribbin; C K Stein; J S Harrison; Thomas W Glover; C A Hanson; JJ Wasmuth; R L Cody; Beverly S Mitchell
Association of a mature B cell leukemia with a 4p+ chromosomal abnormality: derivation and characterization of a cell line.
Leukemia 1989;3(9):643-7.
1989: J Overhauser; U Bengtsson; J McMahon; J Ulm; M G Butler; L Santiago; JJ Wasmuth
Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5.
American journal of human genetics 1989;45(2):296-303.
1989: R Shiang; Jeffrey C Murray; C C Morton; K H Buetow; JJ Wasmuth; Ann Haskins Olney; W G Sanger; G Goldberger
Mapping of the human complement factor I gene to 4q25.
Genomics 1989;4(1):82-6.
1988: Julia E Richards; T C Gilliam; J L Cole; Mitchell L Drumm; JJ Wasmuth; James Gusella; Francis S Collins
Chromosome jumping from D4S10 (G8) toward the Huntington disease gene.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(17):6437-41.
1988: JJ Wasmuth; J Hewitt; B Smith; D Allard; Jonathan L Haines; Douglas W Skarecky; E Partlow; Michael R Hayden
A highly polymorphic locus very tightly linked to the Huntington's disease gene.
Nature 1988;332(6166):734-6.
1988: B Smith; Douglas W Skarecky; U Bengtsson; R Ellen Magenis; N Carpenter; JJ Wasmuth
Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus.
American journal of human genetics 1988;42(2):335-44.
1988: M Dobbs; J Overhauser; JJ Wasmuth
Molecular analysis of a case of meiotic recombination leading to cri-du-chat syndrome.
Cytogenetics and cell genetics 1988;47(1-2):5-7.
1982: S Dana; JJ Wasmuth
Linkage of the leuS, emtB, and chr genes on chromosome 5 in humans and expression of human genes encoding protein synthetic components in human--Chinese hamster hybrids.
Somatic cell genetics 1982;8(2):245-64.
1981: JJ Wasmuth; J M Hill; L S Vock
Identification and characterization of a third complementation group of emetine-resistant Chinese hamster cell mutants.
Molecular and cellular biology 1981;1(1):58-65.