Published in Am J Hum Genet on May 01, 1977
A probable sex difference in some mutation rates. Am J Hum Genet (1977) 1.49
High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am J Hum Genet (1996) 1.48
A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. Am J Hum Genet (1980) 1.31
Effects of reproductive compensation and genetic drift on X-linked lethals. Am J Hum Genet (1978) 1.20
Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders. Am J Hum Genet (1980) 0.90
Effect of reproductive compensation and the desire to have male offspring on the incidence of a sex-linked lethal disease. Am J Hum Genet (1980) 0.80
Determining the frequency of sporadic cases of rare X-linked disorders. Ann Transl Med (2016) 0.75
A general model for the genetic analysis of pedigree data. Hum Hered (1971) 40.17
Formal genetics of muscular dystrophy. Am J Hum Genet (1959) 6.03
Ascertainment and age of onset in pedigree analysis. Hum Hered (1973) 3.17
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
General models for segregation analysis. Am J Hum Genet (1975) 2.04
Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates. Am J Hum Genet (1962) 1.67
Evolutionary trees from DNA sequences: a maximum likelihood approach. J Mol Evol (1981) 67.56
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84
The evolutionary advantage of recombination. Genetics (1974) 11.65
Estimating effective population size and mutation rate from sequence data using Metropolis-Hastings sampling. Genetics (1995) 10.11
Maximum likelihood estimation of a migration matrix and effective population sizes in n subpopulations by using a coalescent approach. Proc Natl Acad Sci U S A (2001) 9.38
Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene. Science (1985) 9.12
Maximum-likelihood estimation of migration rates and effective population numbers in two populations using a coalescent approach. Genetics (1999) 8.76
Maximum likelihood estimation of recombination rates from population data. Genetics (2000) 8.34
Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Nature (1986) 7.90
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science (1967) 7.75
Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J (1987) 7.32
Linkage and selection: theoretical analysis of the deterministic two locus random mating model. Genetics (1967) 7.12
Maximum likelihood estimation of population growth rates based on the coalescent. Genetics (1998) 7.11
Inbreeding and variance effective numbers in populations with overlapping generations. Genetics (1971) 7.03
Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Science (1986) 6.10
An evolutionary model for maximum likelihood alignment of DNA sequences. J Mol Evol (1991) 5.84
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell (1996) 5.67
Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33
A simulation comparison of phylogeny algorithms under equal and unequal evolutionary rates. Mol Biol Evol (1994) 5.26
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Mammalian X-chromosome inactivation. Annu Rev Genet (1983) 4.89
The theoretical population genetics of variable selection and migration. Annu Rev Genet (1976) 4.77
cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc Natl Acad Sci U S A (1987) 4.61
Maximum-likelihood estimation of evolutionary trees from continuous characters. Am J Hum Genet (1973) 4.58
Sampling among haplotype resolutions in a coalescent-based genealogy sampler. Genet Epidemiol (2000) 4.29
Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. Science (1985) 4.29
Mapping of transforming growth factor alpha gene on human chromosome 2 close to the breakpoint of the Burkitt's lymphoma t(2;8) variant translocation. Cancer Res (1985) 4.17
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci U S A (1999) 4.13
The effect of linkage on directional selection. Genetics (1965) 4.08
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell (1994) 4.04
The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4. Am J Hum Genet (1985) 4.01
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83
Usefulness of single nucleotide polymorphism data for estimating population parameters. Genetics (2000) 3.78
Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor. Science (1987) 3.47
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test (1999) 3.42
An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins. Nature (1987) 3.33
A specific enzyme defect in gout associated with overproduction of uric acid. Proc Natl Acad Sci U S A (1967) 3.29
Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin. EMBO J (1988) 3.26
Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes. Hum Genet (1978) 3.13
Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S A (1982) 3.11
Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. Proc Natl Acad Sci U S A (1970) 3.05
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics (1978) 3.04
Glucose-6-phosphate dehydrogenase mosaicism: utilization as a cell marker in the study of leiomyomas. Science (1965) 3.02
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet (2007) 2.91
Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: possible role of nucleoside kinase(s). Proc Natl Acad Sci U S A (1977) 2.90
A system of nomenclature for band patterns of mouse chromosomes. Chromosoma (1973) 2.87
Inching toward reality: an improved likelihood model of sequence evolution. J Mol Evol (1992) 2.86
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med (1969) 2.84
Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet (1984) 2.82
The neu gene: an erbB-homologous gene distinct from and unlinked to the gene encoding the EGF receptor. Science (1985) 2.80
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A (1983) 2.73
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem (1991) 2.70
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science (1968) 2.69
The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Nucleic Acids Res (1987) 2.57
Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell (1993) 2.52
An efficient method for matching nucleic acid sequences. Nucleic Acids Res (1982) 2.51
Polymerase chain reaction-aided genomic sequencing of an X chromosome-linked CpG island: methylation patterns suggest clonal inheritance, CpG site autonomy, and an explanation of activity state stability. Proc Natl Acad Sci U S A (1990) 2.51
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Structure and functional expression of the human macrophage inflammatory protein 1 alpha/RANTES receptor. J Exp Med (1993) 2.49
Molecular analysis and chromosomal mapping of amplified genes isolated from a transformed mouse 3T3 cell line. Somat Cell Mol Genet (1987) 2.48
Clonal origin of chronic myelocytic leukemia in man. Proc Natl Acad Sci U S A (1967) 2.48
Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. Am J Hum Genet (1972) 2.45
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet (1999) 2.42
Half chromatid mutations: transmission in humans? Am J Hum Genet (1975) 2.38
Agenesis of the lung. Report of four patients with unusual anomalies. Chest (1985) 2.33
Methylation analysis of CGG sites in the CpG island of the human FMR1 gene. Hum Mol Genet (1992) 2.32
A regular pattern of two types of 100-residue motif in the sequence of titin. Nature (1990) 2.29
Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer. Genomics (1997) 2.28
Public health and long-term genetic implications of intrauterine diagnosis and selective abortion. Birth Defects Orig Artic Ser (1971) 2.28
Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria. Clin Chim Acta (1977) 2.25
The evolutionary advantage of recombination. II. Individual selection for recombination. Genetics (1976) 2.25
Cloning, mapping, and characterization of activated leukocyte-cell adhesion molecule (ALCAM), a CD6 ligand. J Exp Med (1995) 2.24
Transformation with DNA from 5-azacytidine-reactivated X chromosomes. Proc Natl Acad Sci U S A (1982) 2.22
Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33. Genomics (1988) 2.21
Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Genomics (1988) 2.20
Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7. EMBO J (1986) 2.19
Conservation of autosomal gene synteny groups in mouse and man. Nature (1978) 2.18
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet (1979) 2.18
A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet (1998) 2.16
Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system. Proc Natl Acad Sci U S A (1997) 2.15
The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21 to qter. Hum Genet (1981) 2.14
p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. Mol Cell Biol (1998) 2.13
Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7. Genomics (1988) 2.12
Salt--a dangerous "antidote". J Pediatr (1971) 2.12
Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis. Science (1967) 2.12
Toso, a cell surface, specific regulator of Fas-induced apoptosis in T cells. Immunity (1998) 2.11
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature (1987) 2.10
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 2.08
Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase. J Biol Chem (1968) 2.08
Demethylation of specific sites in the 5' region of the inactive X-linked human phosphoglycerate kinase gene correlates with the appearance of nuclease sensitivity and gene expression. Mol Cell Biol (1988) 2.07
Assignment of first random restriction fragment length polymorphism (RFLP) locus ((D14S1) to a region of human chromosome 14. Am J Hum Genet (1982) 2.03
The TSG101 tumor susceptibility gene is located in chromosome 11 band p15 and is mutated in human breast cancer. Cell (1997) 2.02
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res (2000) 2.01