Robert S. Sparkes

Robert S. Sparkes's AcademicInfluence.com Rankings

Robert S. Sparkes

Biology

#6565

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#9308

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Immunology

#343

World Rank

#356

Historical Rank

Molecular Biology

#691

World Rank

#708

Historical Rank

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Biology

Robert S. Sparkes's Degrees

Bachelors Biology University of California, Berkeley
PhD Molecular Biology Stanford University

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Robert S. Sparkes's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia (1993) (1285)
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis (1993) (663)
Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. (1981) (654)
Localization of an ataxia-telangiectasia gene to chromosome 11q22–23 (1988) (648)
Direct evidence for a bone marrow origin of the alveolar macrophage in man. (1976) (383)
Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. (1983) (358)
MICROTECHNIQUE FOR CULTURING LEUKOCYTES FROM WHOLE BLOOD. (1963) (342)
Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. (1980) (340)
Patient with 13 chromosome deletion: evidence that the retinoblastoma gene is a recessive cancer gene. (1983) (334)
D2 and D4 dopamine receptor polymorphisms and personality. (1998) (316)
Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6. (1988) (279)
An undifferentiated variant derived from the human acute myelogenous leukemia cell line (KG-1). (1980) (278)
Hormone-sensitive lipase: sequence, expression, and chromosomal localization to 19 cent-q13.3. (1988) (275)
The human and rodent intestinal fatty acid binding protein genes. A comparative analysis of their structure, expression, and linkage relationships. (1987) (258)
Ataxia‐Telangiectasia: An Interdisciplinary Approach to Pathogenesis (1991) (247)
Assignment of the human and mouse prion protein genes to homologous chromosomes. (1986) (242)
Bone marrow origin of hepatic macrophages (Kupffer cells) in humans. (1978) (224)
D2 dopamine receptor gene and cigarette smoking: a reward gene? (1994) (220)
Human aromatase: cDNA cloning, Southern blot analysis, and assignment of the gene to chromosome 15. (1988) (218)
Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease. (1989) (195)
D2 dopamine receptor gene and obesity. (1994) (194)
Unicellular histogenesis of uterine leiomyomas as determined by electrophoresis by glucose-6-phosphate dehydrogenase. (1970) (191)
Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. (1987) (183)
Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6. (1991) (156)
Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation. (1981) (150)
Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25. (1991) (144)
The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. (1991) (144)
Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles (1971) (141)
The cytogenetics of ataxia telangiectasia. (1991) (140)
Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. (1979) (139)
The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two-locus models, and genetic heterogeneity. (1983) (132)
Origin of Human Bone Marrow Fibroblasts (1980) (121)
Mental retardation associated with "balanced" chromosome rearrangements. (1977) (114)
Prediction of familial predisposition to retinoblastoma. (1986) (111)
Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis (1992) (111)
The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q. (1995) (110)
Segregation and linkage analyses of Tourette's syndrome and related disorders. (1990) (105)
The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular retinol binding protein gene. (1987) (103)
Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq. (1990) (102)
Progress in Mapping Human Epilepsy Genes (1994) (98)
Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12. (1992) (98)
Regional mapping of human chromosome 19: organization of genes for plasma lipid transport (APOC1, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI. (1986) (98)
D2 dopamine receptor TaqI A alleles in medically ill alcoholic and nonalcoholic patients. (1994) (95)
Assignment of a serotonin 5HT-2 receptor gene (HTR2) to human chromosome 13q14-q21 and mouse chromosome 14. (1991) (87)
Cellulose acetate electrophoresis of human glucose-6-phosphate dehydrogenase. (1969) (87)
Camurati-Engelmann disease. Genetics and clinical manifestations with a review of the literature. (1972) (86)
Gene mapping studies with the syndrome of autism (1985) (85)
Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man. (1980) (84)
Complementary homeo protein gradients in developing limb buds. (1989) (83)
ABO blood group system and bone marrow transplantation (1977) (82)
Gene Mapping in the Idiopathic Generalized Epilepsies: Juvenile Myoclonic Epilepsy, Childhood Absence Epilepsy, Epilepsy with Grand Mai Seizures, and Early Childhood Myoclonic Epilepsy (1990) (81)
Assignment of defensin gene(s) to human chromosome 8p23. (1989) (81)
Assignment of human 3-hydroxy-3-methylglutaryl coenzyme A reductase gene to q13 → q23 region of chromosome 5 (1986) (81)
Segregation and linkage analyses in families of patients with bipolar, unipolar, and schizoaffective mood disorders. (1983) (80)
Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q. (1979) (80)
Immunoblastic sarcoma in donor cells after bone-marrow transplantation. (1979) (79)
Assignment of the norepinephrine transporter protein (NET1) locus to chromosome 16. (1993) (78)
Bone marrow transplantation from identical twins in the treatment of aplastic anaemia: implication for the pathogenesis of the disease (1984) (77)
Evidence for two functional X chromosomes in human oocytes. (1972) (76)
Mapping the Gene for Juvenile Myoclonic Epilepsy (1989) (74)
D2 dopamine receptor and GABAA receptor β3 subunit genes and alcoholism (1998) (73)
Chromosomal assignment of the human gene for the cancer‐associated retinopathy protein (recoverin) to chromosome 17p13.1 (1995) (73)
Chromosomal localization of the human vesicular amine transporter genes. (1993) (70)
Expression of differentiated functions in hepatoma cell hybrids: IX extinction and reexpression of liver-specific enzymes in rat hepatoma-Chinese hamster fibroblast hybrids (1975) (69)
Genetic Marker Associations With Proliferative Retinopathy in Persons Diagnosed With Diabetes Before 30 yr of age (1992) (69)
Two DNA Restriction Fragment Length Polymorphisms Associated with Ag(t/z) and Ag(g/c) Antigenic Sites of Human Apolipoprotein B (1987) (69)
The gene for human liver arginase (ARG1) is assigned to chromosome band 6q23. (1986) (68)
Standardization of procedures for chromosome studies in abortion. (1966) (68)
A familial syndrome of deafness, alopecia, and hypogonadism. (1973) (67)
Hashimoto's disease in Turner's syndrome with isochromosome X. (1963) (65)
Familial hypogonadotropic hypogonadism with anosmia. (1968) (65)
Haplotypes at the DRD2 locus and severe alcoholism. (2000) (64)
Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations. (1996) (62)
Characterization and chromosomal mapping of the gene encoding the cellular DNA binding protein ILF. (1992) (61)
Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity. (1982) (60)
Anti-apoprotein B monoclonal antibodies detect human low density lipoprotein polymorphism. (1984) (60)
Galactokinase deficiency as a cause of cataracts. (1973) (60)
DO ONCOGENES DETERMINE CLINICAL FEATURES IN CHRONIC MYELOID LEUKAEMIA? (1987) (60)
Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. (2006) (59)
Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy (1996) (59)
Gene Markers in Human Bone Marrow Transplantation 1 (1977) (59)
Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus. (1984) (58)
Complete or partial homozygosity of chromosome 13 in primary retinoblastoma. (1987) (54)
Regulation of rat liver 3-hydroxy-3-methylglutaryl coenzyme A synthase and the chromosomal localization of the human gene. (1986) (54)
Cloning and chromosomal mapping of a human immunodeficiency virus 1 "TATA" element modulatory factor. (1992) (53)
THE LYON-BEUTLER HYPOTHESIS AND ISOCHROMOSOME X PATIENTS WITH TURNER SYNDROME. (1963) (53)
Chromosomal Effect in vivo of Exposure to Lysergic Acid Diethylamide (1968) (53)
Chromosomal mosaicism associated with prolonged remission in chronic myelogenous leukemia (1976) (52)
Prevention of graft rejection following bone marrow transplantation (1981) (52)
HEREDITARY OSTEOLYSIS WITH HYPERTENSION AND NEPHROPATHY. (1964) (52)
Genetic variants of glucose‐6‐phosphate dehydrogenase in the study of carcinoma of the cervix (1971) (51)
Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations. (1979) (50)
Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy. (1999) (48)
Localization of monocyte chemotactic protein-1 gene (SCYA2) to human chromosome 17q11.2-q21.1. (1991) (47)
Absent thumbs with a ring D2 chromosome: a new deletion syndrome. (1967) (47)
The Philadelphia chromosome in human macrophages (1977) (46)
Cytogenetic abnormalities in ataxia telangiectasia with T-cell chronic lymphocytic leukemia (1980) (46)
Induction of a human carbonyl reductase gene located on chromosome 21. (1990) (45)
Peters' anomaly associated with partial deletion of the long arm of chromosome 11. (1984) (45)
Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome. (1982) (44)
Further observations on a 13qXp translocation associated with retinoblastoma. (1980) (43)
Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism. (1991) (43)
Localization of the gene for the DNA-binding protein AP-2 to human chromosome 6p22.3-pter. (1991) (41)
Chromosome findings in 700 children referred to a psychiatric clinic. (1972) (41)
Chronic myelocytic leukemia: eosinophils involved in the malignant clone. (1980) (40)
Chromosomal distribution of three members of the human natriuretic peptide receptor/guanylyl cyclase gene family. (1990) (40)
Linkage mapping of 40 randomly isolated liver cDNA clones in the mouse. (1993) (39)
Effect of LSD on human pregnancy. (1970) (39)
Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case. (1970) (39)
Regional localization of the human genes for aldehyde dehydrogenase-1 and aldehyde dehydrogenase-2. (1988) (38)
Linkage analysis of DRD2, a marker linked to the ataxia-telangiectasia gene, in 64 families with premenopausal bilateral breast cancer. (1993) (38)
Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2. (1987) (38)
Chromosomal abnormalities of a mediastinal embryonal cell carcinoma in a patient with 47,XXY Klinefelter syndrome: evidence for the premeiotic origin of a germ cell tumor. (1983) (38)
Linkage analysis of neurofibromatosis (von Recklinghausen disease). (1983) (38)
The Rieger syndrome and a chromosome 13 deletion. (1987) (38)
ABO blood group system and bone marrow transplantation. (1977) (38)
Carboxyl ester lipase: a highly polymorphic locus on human chromosome 9qter. (1991) (38)
Expression of differentiated functions in hepatoma cell hybrids: alanine aminotransferase. (1973) (37)
Assignment of tear lipocalin gene to human chromosome 9q34-9qter. (1993) (37)
Insights into the expression of ABH and Lewis antigens through human bone marrow transplantation. (1981) (37)
Assignment of the alpha B-crystallin gene to human chromosome 11. (1989) (36)
Regional mapping of ADA and ITP on human chromosome 20: cytogenetic and somatic cell studies in an X/20 translocation. (1980) (36)
Novel gene exon homologous to pancreatic phospholipase A2: Sequence and chromosomal mapping of both human genes (1989) (35)
Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7. (1992) (34)
Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16. (1981) (34)
Molecular cloning of the human homeobox gene goosecoid (GSC) and mapping of the gene to human chromosome 14q32.1. (1994) (34)
Characterization and chromosomal mapping of the gene encoding the cellular DNA binding protein HTLF. (1992) (33)
Pulmonary valvular dysplasia. A cardiofacial syndrome. (1973) (33)
Reviews, Notes, and Listings: Cardiology: Molecular Genetics of Coronary Artery Disease: Candidate Genes and Processes in Atherosclerosis (1992) (33)
Assignment of the human gene for cholesteryl ester transfer protein to chromosome 16q12-16q21. (1987) (33)
Assignment of human pancreatic lipase gene (PNLIP) to chromosome 10q24-q26. (1991) (32)
Huntington disease: linkage analysis with age-of-onset corrections. (1980) (32)
Male-enhanced antigen gene is phylogenetically conserved and expressed at late stages of spermatogenesis. (1989) (32)
Tetrasomy 9p: confirmation by enzyme analysis. (1980) (32)
Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids. (1977) (32)
Mental retardation in methemoglobinemia due to diaphorase deficiency. (1965) (31)
Nucleotide sequence for the cDNA of the bovine beta B2 crystallin and assignment of the orthologous human locus to chromosome 22. (1987) (31)
Genetic linkage studies in Alzheimer's disease (1986) (31)
Assignment of the rhodopsin gene to human chromosome three, region 3q21-3q24 by in situ hybridization studies. (1986) (31)
Cowden disease: gene marker studies and measurements of epidermal growth factor. (1986) (31)
Clonal origins of lymphoproliferative disease induced by Epstein-Barr virus (1986) (31)
Assignment of the human gene for CREB1 to chromosome 2q32.3-q34. (1990) (31)
Duplication 11 (q21 to 23 leads to qter) syndrome. (1977) (30)
Acromesomelic dwarfism: manifestations in childhood. (1977) (30)
Trisomy of group C in a myeloproliferative disorder. Report of case. (1966) (30)
D2 dopamine receptor and GABA(A) receptor beta3 subunit genes and alcoholism. (1998) (30)
Probable trisomy 22 identified by fluorescent and trypsin-giemsa banding. (1973) (30)
U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. (1994) (30)
Human mitotic and meiotic chromosome damage following in vivo exposure to methotrexate (1971) (30)
HERITABLE DISORDERS OF CONNECTIVE TISSUE: Third Edition (1966) (30)
De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome. (1982) (29)
Intrasubspecific and Intersubspecific Chromosomal Polymorphism in Peromyscus maniculatus (Deer Mouse) (1966) (29)
The Philadelphia chromosome in human macrophages. (1977) (29)
Multiple molecular abnormalities in Ph1 chromosome positive acute lymphoblastic leukaemia (1987) (29)
Localization of the gene-encoding upstream stimulatory factor (USF) to human chromosome 1q22-q23. (1993) (29)
Genomic organization and chromosomal localization of a novel human hepatic dihydrodiol dehydrogenase with high affinity bile acid binding. (1994) (29)
Demonstrated paternity in spite of severe idiopathic oligospermia (1987) (28)
X-chromosome inactivation in cultured cells from human chorionic villi (1989) (28)
Chronic Myelocytic Leukaemia: a Pluripotent Haemopoietic Cell is Involved in the Malignant Clone (1981) (27)
Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa. (1982) (27)
Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina. (1990) (27)
Phosphorylation of red-cell membrane proteins in Duchenne muscular dystrophy. (1979) (26)
The Turner syndrome with isochromosome X and Hashimoto's thyroiditis. (1967) (26)
Evidence for a Null allele at the Esterase D (EC 3.1.1.1) locus (1979) (26)
Assignment of the prealbumin (PALB) gene (familial amyloidotic polyneuropathy) to human chromosome region 18q11.2–q12.1 (1987) (26)
Prevention of graft rejection following bone marrow transplantation. (1981) (26)
A family with three independent autosomal translocations associated with 7q32----7qter syndrome. (1985) (26)
Segregation of an insertional chromosome rearrangement in 3 generations. (1978) (26)
Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1. (1977) (26)
Mapping of the gene for the cardiac sarcolemmal Na(+)-Ca2+ exchanger to human chromosome 2p21-p23. (1992) (26)
Assignment of the S-antigen gene (SAG) to human chromosome 2q24-q37. (1990) (26)
Hereditary multiple exostoses. Report of a family. (1984) (26)
Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3) (2004) (25)
Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree. (1981) (25)
Association of autism, retinoblastoma, and reduced esterase D activity. (1988) (25)
Genetic linkage studies of transferrin, pseudocholinesterase, and chromosome 1 loci. (1984) (25)
CML-T1: a cell line derived from T-lymphocyte acute phase of chronic myelogenous leukemia. (1989) (25)
Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities. (1997) (25)
Assignment of the rhodopsin gene to human chromosome 3. (1986) (24)
Use of conditioned media in cell culture can mask cytogenetic abnormalities in acute leukemia. (1990) (24)
Ring 14 chromosome: association with seizures. (1981) (23)
Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa. (1996) (23)
A new locus for autosomal dominant cataract on chromosome 12q13. (2000) (22)
Pericentric inversion of a number 15 chromosome in nine members of one family. (1970) (22)
Localization of the rhodopsin gene to the distal half of mouse chromosome 6. (1990) (21)
Localization of multiple human dihydrodiol dehydrogenase (DDH1 and DDH2) and chlordecone reductase (CHDR) genes in chromosome 10 by the polymerase chain reaction and fluorescence in situ hybridization. (1995) (21)
Late replication studies in a human X/13 translocation: correlation with autosomal gene expression. (1981) (21)
Trisomy 18 phenotype in a patient with an isopseudodicentric 18 chromosome. (1984) (21)
Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen→q131) and adenosine deaminase (q131→qter) on chromosome 20 (2004) (21)
Genetic linkage analysis of autosomal dominant congenital cataracts. (1986) (21)
The Ah receptor nuclear translocator gene (ARNT) is located on q21 of human chromosome 1 and on mouse chromosome 3 near Cf-3. (1993) (20)
Possible assignment of a dominant retinitis pigmentosa gene to chromosome 1. (1982) (20)
Down's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation. (1982) (20)
Two members of the S-lac lectin gene family, LGALS1 and LGALS2, reside in close proximity on human chromosome 22q12-q13. (1993) (19)
The dup(17p) syndrome (1982) (19)
Linkage analysis with the trismus-pseudocamptodactyly syndrome. (1982) (19)
Dispersed family of human genes with sequence similarity to farnesyl pyrophosphate synthetase. (1989) (19)
Assignment of the human Na+/glucose cotransporter gene SGLT1 to chromosome 22q13.1. (1993) (19)
Insertional translocation into the X chromosome of a 46, XY male (1977) (19)
Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (14qter to cen to 21qter)1. (1979) (19)
Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia (1989) (18)
Phenotypic variation in two patients with a ring chromosome 22 (1979) (18)
High resolution chromosome banding in the Rubinstein—Taybi syndrome (1983) (18)
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. 1993. (2012) (18)
Recombinational event between Norrie disease and DXS7 loci (1988) (18)
Frequency of reactivation and variability in expression of X-linked enzyme loci. (1984) (18)
Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16. (1992) (18)
Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1. (1997) (17)
C-band polymorphism: comparison between trisomy 21 cases and mentally retarded controls. (1980) (17)
Trisomy E (18) syndrome: clinical spectrum in 12 new cases, including chromosome autoradiography in 4. (1970) (17)
Cytogenetic Comparison of Four Species of Cetaceans (1971) (17)
The gene for the major intrinsic protein (MIP) of the ocular lens is assigned to human chromosome 12cen-q14. (1986) (17)
The 9p-syndrome. (1979) (17)
TCL‐1, MTCP‐1 and TML‐1 gene expression profile in non‐leukemic clonal proliferations associated with ataxia‐telangiectasia (2002) (17)
Immunoglobulin synthesis following allogeneic bone marrow transplantation in man. Conversion to donor allotype. (1979) (16)
Genetic factors in atherosclerosis : approaches and model systems (1989) (16)
Interstitial deletion 2q24.3: case report with high resolution banding. (1985) (16)
Bone marrow transplantation between a histocompatible parent and child for acute leukemia. (1978) (16)
Trisomy 20p due to a paternal reciprocal translocation. (1983) (16)
The genetics of retinoblastoma. (1985) (16)
A 15 → 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11) (1982) (16)
Control of red blood cell adenine nucleotide metabolism studies of adenosine deaminase. (1978) (15)
Inherited pericentric inversion of a human Y chromosome in trisomic Down's syndrome. (1970) (15)
Monozygotic twins with Crohn's disease: a case report. (1980) (15)
Atypical immunologic tolerance in a human blood group chimera. (1969) (15)
Marijuana exposure in vivo and human lymphocyte chromosomes. (1977) (15)
Partial trisomy of chromosome 11: a case report. (1973) (15)
Improved technique for electrophoresis of human galactose-1-P uridyl transferase (EC 2.7.7.12) (1977) (14)
The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1) maps to human chromosome 6q22.3-6q24 and the syntenic region of mouse chromosome 10. (1992) (14)
Polymorphic gene markers in Mexican-Americans residing in southern California. (1995) (14)
18p--syndrome resulting from translocation (13a;18q) in a mildly affected adult male. (1979) (14)
Close linkage of MT2P1 with GC on chromosome 4. (1986) (14)
Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups. (1989) (13)
Congenital ocular fibrosis syndrome associated with the Prader-Willi syndrome. (1986) (13)
Cytogenetic analysis in human bone marrow transplantation. (1981) (13)
Craniosynostosis and syndactyly: expanding the 11q-- chromosomal deletion phenotype. (1980) (13)
Glucose‐6‐phosphate dehydrogenase polymorphism: A valuable tool to study tumor origin (1971) (13)
Brief clinical report: the dup(17p) syndrome. (1982) (13)
Minor chromosome variants in child psychiatric patients. (1978) (12)
Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe. (1989) (12)
A gene homologous to plasminogen located on human chromosome 2q11-p11. (1989) (12)
Assignment of PGM3 to the long arm of human chromosome 6. Studies using Chinese hamster X human cell hybrids containing a human 6/15 translocation. (1980) (12)
Ring 10 chromosome: 46,XX,r10(p15q26) (1978) (12)
Mapping of aldose reductase gene sequences to human chromosomes 1, 3, 7, 9, 11, and 13. (1993) (12)
Assignment of the myelin basic protein gene to human chromosome 18q22-qter (1987) (12)
A genetic epidemiologic investigation of breast cancer in families with bilateral breast cancer. II. Linkage analysis (1989) (12)
Localization of the gene for high-density lipoprotein binding protein (HDLBP) to human chromosome 2q37. (1993) (12)
Molecular genetics of retinitis pigmentosa. (1991) (11)
Ring 11 chromosome (46,XX,r11(p15q25)) (1977) (11)
Genetic Linkage Analysis of Neurofibromatosis a (1986) (11)
Are some cases of acute leukemia with t(8;21) hybrid leukemias? (1990) (11)
Chromosome deletion mapping of interspersed low-copy repetitive DNA. (1984) (11)
Trisomy G without Down's syndrome. (1966) (11)
Linkage analyses of multiple endocrine neoplasia, type 2 (MEN-2) with 23 classical genetic polymorphisms. (1986) (11)
Double monosomy mosaicism (45,X-45, XX,21-) in a retarded child with multiple congenital malformations. (1971) (11)
Partial F trisomy associated with familial F-13 translocation detected and identified by parental chromosome studies. (1971) (11)
Deletion (13)(q14.1q14.3) in two generations: variability of ocular manifestations and definition of the phenotype. (1988) (11)
Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9. (1978) (11)
Deletion (13) (q14.1q14.3) in two generations: Variability of ocular manifestations and definition of the phenotype (1987) (10)
Mapping of the gene for CNBP, a finger protein, to human chromosome 3q13.3-q24. (1990) (10)
Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen→9p22 (1980) (10)
Chromosome survey of moderately to profoundly retarded patients. (1973) (10)
Alcohol and alcoholism. (1981) (10)
Association studies between type 1 (insulin-dependent) diabetes and 27 genetic markers: Lack of association between type 1 diabetes and kidd blood group (1983) (10)
Arteriovenous shunt produced by metastatic hypernephroma. (1961) (10)
Estimating the Recombination frequency for the PTC-Kell linkage (2004) (10)
Genetic linkage analysis of autosomal dominant congenital cataracts with lens-specific DNA probes and polymorphic phenotypic markers. (1988) (9)
Ornithine aminotransferase (OAT): recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus. (1990) (9)
Genetic linkage analysis of the carpal tunnel syndrome. (1985) (9)
Assignment of the phosducin (PDC) gene to human chromosome 1q25-1q32.1 by somatic cell hybridization and in situ hybridization. (1993) (9)
Linkage relationships of the gene for the beta subunit of nerve growth factor (NGFB) with other chromosome 1 marker loci. (1985) (9)
Localization of the transcription factor SP1 gene to human chromosome 12q12-->q13.2. (1993) (9)
Genetic linkage analysis in a high-risk cancer family: HLA and 24 other markers. (1983) (9)
Partial trisomy of 13(pter→q12) due to 47,XY,+der(13),t(13;22)(q12;q13)mat (1979) (9)
Dopamine Receptor Gene and Obesity (2005) (9)
Antigens present on human myeloid leukemia cell lines. (1980) (9)
Assignment of the ζ-Crystallin Gene (CRYZ) to Human Chromosome 1p22-p31 and Identification of Restriction Fragment Length Polymorphisms (1994) (9)
Trisomy 12 in Burkitt-like lymphoma associated with acquired immunodeficiency syndrome. (1987) (8)
Y chromosome length related to fetal loss (1983) (8)
Cetacean hemoglobins: Electrophoretic findings in nine species☆ (1972) (8)
Marrow transplantation in newborn mice with hereditary spherocytosis: a model system. (1962) (8)
Neoplasia and chromosomal breakage in ataxia-telangiectasia: a 2:14 translocation. (1985) (8)
Human gene mapping, genetic linkage, and clinical applications. (1980) (8)
The 9p trisomy syndrome due to inherited translocation. (1975) (8)
Chromosomal variants and abnormalities in couples with repeated spontaneous pregnancy loss (1983) (8)
The steroid sulfatase locus on structurally abnormal inactive X chromosomes is expressed. (1984) (8)
Assignment of the gene for the small nuclear ribonucleoprotein E (SNRPE) to human chromosome 1q25-q43. (1990) (8)
Leukocyte alkaline phosphatase and the Philadelphia chromosome. (1967) (8)
Somatic cell hybrid analyses of hematopoietic differentiation (1981) (8)
Aconitase (E.C. 4.2.1.3) mitochondrial locus (ACONM) mapped to human chromosome 22. (1978) (7)
The anonymous RFLP locus D1S2 is close to PGM1 on chromosome 1. (1988) (7)
Partial 4q duplication due to inherited der(20), t(4;20)(q25;q13)mat. (1977) (7)
Cytogenetic studies in a patient with a de novo t(Cq-;Gp+). (1970) (7)
Clinical and cytogenetic variations of gonadal dysgenesis in 3 patients. (1970) (7)
Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22 (2004) (7)
Familial Mediterranean fever--linkage studies with genetic markers on chromosome 6. (1990) (7)
Inherited 13/14 Chromosome Translocation as a Cause of Human Fetal Wastage (1970) (7)
Assignment of a human beta-crystallin gene to 17cen-q23 (1986) (7)
18p- Syndrome resulting from 14q/18q ‘dicentric’ fusion translocation (1977) (7)
Genetic marker family studies in familial Mediterranean fever (FMF) in Armenians (1990) (7)
47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome? (1978) (7)
Somatic cell hybrid analyses of hematopoietic differentiation. (1981) (7)
Hybrid leukemia and the 5q-abnormality. (1991) (6)
FAMILIAL INGUINAL HERNIA. (1965) (6)
High sensitivity of phenolphthalein monophosphate in detecting acid phosphatase isoenzymes. (1975) (6)
The problem of partial trisomy 22 reconsidered (1978) (6)
Extended evaluation of previously reported twins with a ring 14 chromosome. (1977) (6)
Blood cell enzymes in trisomy E (18) syndrome. (1969) (6)
Chromosome polymorphism in deer mouse siblings (Peromyscus maniculatus) (1970) (6)
"Spontaneous" abortion and haemorrhage following attempted amniocentesis in a carrier of haemophilia A. (1971) (6)
Regional mapping of a human rod alpha-transducin (GNAT1) gene to chromosome 3p22. (1993) (6)
A linkage analysis of D17S74 (CMM86) in thirty-five families with premenopausal bilateral breast cancer. (1993) (6)
The bcr gene is joined to c-abl in Ph1 chromosome negative chronic myelogenous leukemia. (1988) (6)
Balanced reciprocal (X;9) translocation in a girl with primary amenorrhea. (1981) (6)
Transferase-deficiency galactosemia: Immunochemical studies of the Duarte and Los Angeles variants (2004) (6)
Inherited 13/14 translocation and meta‐centric microchromosome associated with trisomy 21: Report of 2 cases (1983) (6)
Hemoglobin polymorphism in Equus przewalskii and E. caballus analyzed by isoelectric focusing. (1979) (6)
Gene mapping data – recommendations for more efficient dissemination (1983) (6)
Familial Y-autosome translocation in two unrelated girls. (1982) (6)
Progress toward resolving the possible linkage of multiple endocrine neoplasia type 2A to haptoglobin and group‐specific loci: Use of restriction fragment length polymorphisms extends exclusion region (1986) (6)
Duane syndrome associated with features of the cat-eye syndrome and mosaicism for a supernumerary chromosome probably derived from number 22. (1988) (6)
Genetic linkage studies with cleft lip and palate: report of two family studies. (1983) (6)
A 45,XX,-5,-14,+t(5q;14q)mat cri du chat child. (1978) (5)
Glyoxalase I “null” allele in a new family: Identification by abnormal segregation pattern and quantitative assay (2004) (5)
Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh. (1980) (5)
Chromosome 7 short-arm interstitial deletion (p14) (1978) (5)
MNSs antigens and graft versus host disease following bone marrow transplantation. (1980) (5)
The inducible fragile site on chromosome 3. (1983) (5)
Cytogenetics of leukemia. (1984) (5)
Successful bone marrow transplantation against mixed lymphocyte culture barrier. (1976) (5)
BONE MARROW TRANSPLANTATION BETWEEN MIXED LYMPHOCYTE CULTURE‐REACTIVE INDIVIDUALS (1975) (5)
Acquired G‐group trisomy in acute monomyeloblastic leukemia (1968) (5)
Where does transformation occur in acute leukemia? (1991) (5)
The chromosomes of Peromyscus maniculatus hollesteri (deer mouse). (1967) (5)
Abnormal cerebral cortical convolutions in an XYY fetus (2004) (4)
Ring chromosome 16 (2004) (4)
Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus. (1993) (4)
Chromosome polymorphism in interbred subspecies of Peromyscus maniculatus (deer mouse). (1971) (4)
Inconsistent expression of both centromeres of a dicentric Y chromosome in a child with ambiguous external genitalia. (1978) (4)
A U6 snRNA gene with an internal promoter is juxtaposed to an snRNP protein sequence within an intron of a human G protein gene. (1991) (4)
Genetic epidemiology of bilateral breast cancer: A linkage analysis using the affected‐pedigree‐member method (1990) (4)
HETEROZYGOTE DETECTION IN FABRY'S DISEASE (1974) (4)
Glutamate pyruvate transaminase null allele in seven new families (2004) (4)
Down's Syndrome with 47,XX,+21/47,XX,+mar Mosaicism (1973) (4)
Genetic linkage studies with neurofibromatosis: the question of heterogeneity. (1987) (4)
Myeloblastic leukemic cells causing suppression of granulopoiesis and excessive binding of colony-stimulating activity. The effect of antithymocyte globulin. (1978) (4)
Evolution of human cytoplasmic actin gene sequences: chromosome mapping and structural characterizations of three cytoplasmic actin-like pseudogenes including one on the Y chromosome (1987) (4)
Sensitization against non-HLA antigens following bone marrow graft rejection. (2008) (4)
10q(q23 leads to qter) duplication: GOTs, HK1, and other gene markers. (1978) (4)
Aniridia: enzyme studies in an 11p--chromosomal deletion. (1984) (4)
Partial F trisomy and parental chromosomes. (1968) (4)
Red-cell triosephosphate isomerase and chromosome 5. (1970) (4)
Skin homograft survival in humans after lymphocyte depletion by prolonged thoracic duct drainage. (1975) (4)
Detection of glucose-6-phosphate dehydrogenase by fluorescence after cellulose acetate electrophoresis. (1969) (4)
The adult alpha globin gene loci from monkeys to man: the theta globin subfamily and the alpha globin duplication units in Old World monkeys. (1987) (3)
Regional localization of human phosphoglucomutase-2 locus on chromosome 4. (1978) (3)
The immune system, immunoglobulins, and some disorders of the lymphatic system. (1966) (3)
The use of human blood cells in the study of lipid metabolism (1965) (3)
Partial deletion syndromes of chromosome 18. (1971) (3)
Assignment of the zeta-crystallin gene (CRYZ) to human chromosome 1p22-p31 and identification of restriction fragment length polymorphisms. (1994) (3)
The choice of epilepsy syndromes for genetic analysis. (1991) (3)
Chromosomal Organization of Genes Involved in Plasma Lipoprotein Metabolism: Human and Mouse ‘Fat Maps’ (1989) (3)
Expression of esterase D and other gene markers in trisomy 13 (1979) (3)
Inherited t(13q14q) in two retarded sisters. (1972) (3)
Blood cell enzymes in translocation Down's syndrome. (1969) (3)
Chromosome banding studies in two patients with XXXXY syndrome. (1978) (3)
Lack of chromosomal damaging effects by moderate doses of LSD in vivo (1974) (3)
10q(q23→qter) duplication: GOTs, HK1, and other gene markers (1978) (3)
Three polymorphisms detected by a retinal degeneration slow (rds) probe (RDS). (1991) (2)
THE TECHNIQUE OF PSYCHOTHERAPY: Second Edition in Two Volumes (1968) (2)
Two independent HLA-B-locus specificities expressed on a single haplotype. (1979) (2)
Glutamate pyruvate transaminase null allele (GPT0) in the Navajo. (1985) (2)
Genetic counseling in mental retardation. (1968) (2)
Genetic abnormalities: the consequences of chromosome imbalance. (1987) (2)
Experience with incompatible maternal donors for bone marrow transplantation (2005) (2)
Prenatal diagnosis of genetic disorders by amniocentesis. (1973) (2)
Mapping studies of the serum cholinesterase-2 locus (CHE2) (1989) (2)
The use of monoclonal antibodies to detect genetic polymorphism: application to apolipoprotein B. (1985) (2)
VARIATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN DIFFERENT POPULATIONS (1964) (2)
Pure gonadal dysgenesis with nonmosaic XY sex chromosomes. (1976) (2)
Aconitase (E.C. 4.2.1.3) mitochondrial locus mapped to human chromosome 22: Studies with Chinese hamster-human somatic cell hybrids (1978) (2)
Turner's syndrome: cytogenetic study of a patient included in the initial report of Turner. (1966) (2)
Familial pericentric inversion ( 13 ) detected by antenatal diagnosis (2)
Genetic linkage analysis of dermo-distortive urticaria. (1981) (2)
Genetic linkage studies of ataxia-telangiectasia: phenotypic blood markers. (1987) (2)
Marked hypodiploidy in a case of acute undifferentiated leukemia (1979) (2)
EVIDENCE FOR INDEPENDENT MUTATION OF THE 21-HYDROXYLASE DEFICIENCY (210H DEF) GENE IN ALASKAN ESKIMOS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH) (1984) (2)
Human gene mapping 7 : Los Angeles Conference (1983) : Seventh international workshop on human gene mapping : at the University of California, Los Angeles (UCLA), August 21-26, 1983 (1984) (2)
The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis. (1983) (1)
Duplicate report crossing over in Norrie disease family. (1989) (1)
Genetic Disorders Affecting Growth and Development (1972) (1)
Esterase D studies in human retinoblastoma. (1983) (1)
Human PGM2 (E. C. 2.7.5.1) mapped to 4pter→4q25 (1978) (1)
Linkage analysis of several families with dominant form retinitis pigmentosa (1980) (1)
Ph1‐chromosome positive acute lymphoblastic leukemia: Is t(9;22) the initial abnormality? (1993) (1)
The UCLA experience in developing protocols for informed consent (2000) (1)
Familial pericentric inversion of chromosome 8 : is breakpoint p22q23 important in the formation of unbalanced recombinants? (1980) (1)
Evidence of Autonomous Red Cell Expression of Xga Antigen in Human Bone Marrow Transplantation (1984) (1)
Progress in Medical Genetics, Vol. VII (1971) (1)
Molecular human cytogenetics (1977) (1)
Superior mesenteric artery stenosis: cause of recurrent ischemic bowel syndrome in an infant. (1986) (1)
Blood cell pyruvate kinase activity in translocation Down's syndrome (2004) (1)
Ring 13 or ring 14: distinction by banding analysis of a culture derived from tissue frozen for 10 years (1977) (1)
An XXXY boy with X/XY half‐sister (1981) (1)
Prominent acrocentric chromosome satellites in child patients with mental retardation or psychiatric disorders; No IQ-satellite size correlation (2004) (1)
Book Review Index Vol. 5, 1966 (1966) (1)
Alexander F. Zakharov (1986) (1)
13-14 chromosome translocation and longevity in man. (1974) (1)
Assignment of the human gene for phosphoglycolate phosphatase to chromosome 16 (2004) (1)
Linkage to Tourette syndrome is excluded for red-cell acid phosphatase (ACP1) and flanking markers on chromosome 2pter-2p23. (1991) (1)
Molecular insights into Fanconi anemia. (1996) (1)
The inducible fragile site on chromosome 3 (2004) (1)
A 15 leads to 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11). (1982) (1)
Galactosemia in a 24-year-old man; detection by enzyme studies. (1968) (1)
Generalized XY-XX-XXY chromosomal mosaicism in a male hermaphrodite. (1967) (1)
Genetic linkage studies in ataxia-telangiectasia: Gm markers. (1985) (1)
Genetic Linkage Study of Juvenile Polyposis: Preliminary Analysis (1990) (0)
Tumor suppressor genes (1991) (0)
Recklinghausen disease ) . neurofibromatosis ( von Linkage analysis of (0)
Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22. (1980) (0)
Human Genetic Mutant Cell Repository Reports Index (1981) (0)
Primate evolution of a dispersed human repetitive DNA sequence (2004) (0)
Human gene mapping and linkage analysis. (1989) (0)
Subject Index Vol. 29, 1981 (1981) (0)
Case reports well be that , in this family , 18 q-is unable to segregate properly during gametogenesis and early post-zygotic mitosis , leading to an unbalanced state and + ( 18 q-) (0)
A Linkage Analysis of D 17 S 74 ( CMM 86 ) in Thirty-Five Families with Premenopausal Bilateral Breast Cancer 1 (2007) (0)
Subject Index Vol. 64, 1993 (1993) (0)
Mutation as Cellular Process (1971) (0)
Informed Consent for Human Genetics Research (2000) (0)
human esterase D locus . susceptibility gene ( s ) and the Location of the retinoblastoma (0)
Subject Index, Vol. 34, 1984 (1984) (0)
MNSs Antigens Graft versus Host Disease Following Bone Marrow Transplantation (2008) (0)
Expression of galactose-1-P-uridyltransferase in Chinese hamster × human galactosemia somatic cell hybrids (1979) (0)
Subject Index Vol. 41, 1986 (2004) (0)
Subject Index Vol. 10, 1971 (1971) (0)
Subject Index Vol. 50, 1989 (1989) (0)
Chromosomal effect and LSD: samples of 4. (1968) (0)
The human alpha 2-alpha 1-theta 1 globin locus: some thoughts and recent studies of its evolution and regulation. (1989) (0)
Title Page / Contents / Preface (1989) (0)
Subject Index Vol. 22, 1978 (1978) (0)
Subject Index Vol. 5, 1966 (1966) (0)
Genetic Abnormalities: The Consequences of Chromosome Imbalance . Principles, Mechanisms, and Models. Charles J. Epstein. Cambridge University Press, New York, 1986. xxii, 486 pp., illus. $59. Developmental and Cell Biology Series, 18. (1987) (0)
Contents, Vol. 5, 1966 (1966) (0)
Brief Communication Frequency ofReactivation andVariability inExpression ofX-Linked EnzymeLoci (1984) (0)
Human PGM2 (E.C. 2.7.5.1) mapped to 4pter leads to 4q25. (1978) (0)
Tangier disease: Heterozygote detection and linkage analysis (2004) (0)
Cytogenetic studies of 2 species of porpoise. (1967) (0)
Respiratory Distress Syndrome : How It Can Be Prevented (2006) (0)
Contents, Vol. 29, 1981 (1981) (0)
Response : Chromosomal Effect and LSD: Samples of Four (1968) (0)
Gene-Mapping Techniques (1990) (0)
Contents, Vol. 7, 1969 (1964) (0)
Genetics in Medicine (1974) (0)
The snRNP E Protein: Structure and Expression of a Human Autoimmune Antigen (1989) (0)
Familial Hypogonadotropic Hypogonadism (2016) (0)
PROGRESS IN MEDICAL GENETICS: Volume Eight. (1973) (0)
Bone-marrow transplantation in acute leukaemia. (1977) (0)
Genetics and counseling in medical practice (1970) (0)
Molecular basis of retinoblastoma (1988) (0)
Human gene map. (1983) (0)
Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp (2004) (0)
Reviews Molecular Genetics of Retinitis Pigmentosa (0)
PRACTICAL ASPECTS OF GENETICS FOR PHYSICIANS. (1965) (0)
Gene Expression in Familial Breast Cancer: A Genetic-Epidemiologic Study of Premenopausal Bilateral Breast Cancer (1996) (0)
Genetic counseling. (1973) (0)
Wiims ' Tumor-Aniridia Association : Segregation of Affected Chromosome in Somatic Cell Hybrids , Identification of Cell Surface Antigen Associated with Deleted Area , and Regional Mapping of cHaras-10 ncogene , Insulin Gene , and Beta-Globin Gene (2005) (0)
Evidence from somatic cells for crossing-over in humans. (1986) (0)
TRC in their XXXXY patients (0)
A REVIEW Practical Aspects of GENETIC S for Physicians (2006) (0)
Genetic Concepts and Neoplasia (1971) (0)
Book reviews (2004) (0)
Location oftheretinoblastoma susceptibility gene(s) andthehumanesterase D locus (1984) (0)
Genetic Heterogeneity in the Epilepsies (1994) (0)
PROGRESS IN MEDICAL GENETICS: Volume VI (1970) (0)
Book Review Index Vol. 10, 1971 (1971) (0)
Human cytogenetic nomenclature (1980) (0)
Human Chromosomes: Structures, Behavior, Effects.Eeva Therman (1986) (0)
Editorial help (2004) (0)
Polymorphic gene marker studies. (1986) (0)
Contents, Vol. 50, 1989 (1989) (0)

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