American Journal of Human Genetics
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Publication Venue For
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Genomic Medicine Year in Review: 2019.
105:1072-1075.
2019
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia..
105:413-424.
2019
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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification..
104:1127-1138.
2019
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias..
103:666-678.
2018
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2017 Curt Stern Award: The Complexity of Simple Genetics..
102:355-358.
2018
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Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches..
102:233-248.
2018
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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures..
101:516-524.
2017
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Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements..
101:616-622.
2017
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
100:343-351.
2017
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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
100:185-192.
2017
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Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011)).
99:246.
2016
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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures..
98:1001-1010.
2016
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Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia..
98:456-472.
2016
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DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling..
96:81-92.
2015
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Mutations in EMP2 cause childhood-onset nephrotic syndrome..
94:884-890.
2014
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Erratum: SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant (The American Journal of Human Genetics (2013) 93(5) (798–811) (S0002929713004230) (10.1016/j.ajhg.2013.09.010)).
93:994.
2013
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ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6..
93:336-345.
2013
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Erratum: Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and digeorge syndromes (American Journal of Human Genetics (2013) 92 (439-447)).
92:637.
2013
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Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis..
91:1065-1072.
2012
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Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome..
91:541-547.
2012
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Rare de novo germline copy-number variation in testicular cancer..
91:379-383.
2012
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Erratum: Disruption of a ciliary B9 protein complex causes meckel syndrome ((The American Journal of Human Genetics (July 2011) 89 (94-110)).
89:589.
2011
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Erratum: Epigenetic regulation of human γ-glutamyl hydrolase activity in acute lymphoblastic leukemia cells (The American Journal of Human Genetics (2006) 79 (264-274)).
87:161.
2010
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Inferring genetic ancestry: opportunities, challenges, and implications..
86:661-673.
2010
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Interpretation of association signals and identification of causal variants from genome-wide association studies..
86:730-742.
2010
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Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities..
86:454-461.
2010
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Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18..
84:499-504.
2009
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Long-range LD can confound genome scans in admixed populations..
83:132-135.
2008
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Response to Lee et al..
82:526-528.
2008
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A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes..
81:873-883.
2007
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Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance..
81:1042-1049.
2007
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Clinical and molecular phenotype of Aicardi-Goutieres syndrome..
81:713-725.
2007
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Human microRNA-155 on Chromosome 21 Differentially Interacts with Its Polymorphic Target in the AGTR1 3′ Untranslated Region: A Mechanism for Functional Single-Nucleotide Polymorphisms Related to Phenotypes.
81:405-413.
2007
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Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly..
81:367-374.
2007
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A simple and improved correction for population stratification in case-control studies..
80:921-930.
2007
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Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A..
80:876-883.
2007
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Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease..
80:650-663.
2007
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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor..
80:345-352.
2007
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Deletions in CCM2 are a common cause of cerebral cavernous malformations..
80:69-75.
2007
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Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome..
80:1-11.
2007
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X-APL: an improved family-based test of association in the presence of linkage for the X chromosome..
80:59-68.
2007
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Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation..
79:1119-1124.
2006
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X chromosome-inactivation patterns of 1,005 phenotypically unaffected females..
79:493-499.
2006
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Epigenetic regulation of human gamma-glutamyl hydrolase activity in acute lymphoblastic leukemia cells..
79:264-274.
2006
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Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31..
79:365-369.
2006
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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy..
79:136-142.
2006
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Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration..
78:852-864.
2006
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A high-density screen for linkage in multiple sclerosis..
77:454-467.
2005
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Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism..
77:377-388.
2005
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A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics..
77:219-229.
2005
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Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease..
77:252-264.
2005
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Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations..
76:609-622.
2005
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Regulation of alpha-synuclein expression by poly (ADP ribose) polymerase-1 (PARP-1) binding to the NACP-Rep1 polymorphic site upstream of the SNCA gene..
76:478-492.
2005
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Embracing our duty.
76:547.
2005
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Genetic investigation of quantitative traits related to autism: use of multivariate polygenic models with ascertainment adjustment..
76:68-81.
2005
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A second-generation genomic screen for multiple sclerosis..
75:1070-1078.
2004
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A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study..
75:436-447.
2004
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Are sequence family variants useful for identifying deletions in the human Y chromosome?.
75:514-517.
2004
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Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions..
75:174-189.
2004
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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome..
75:82-91.
2004
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DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)..
74:1128-1135.
2004
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Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease..
74:1121-1127.
2004
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Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation.
74:1051-1056.
2004
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The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus..
74:931-944.
2004
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Premature myocardial infarction novel susceptibility locus on chromosome 1P34-36 identified by genomewide linkage analysis..
74:262-271.
2004
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Introductory Speech for David Page.
74:397-398.
2004
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Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans..
74:160-167.
2004
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Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations..
73:1459-1464.
2003
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Accounting for linkage in family-based tests of association with missing parental genotypes..
73:1016-1026.
2003
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Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients..
73:1027-1040.
2003
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Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22..
73:1041-1051.
2003
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A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set..
73:271-284.
2003
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Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis..
73:397-403.
2003
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Variation in the HLA-G promoter region influences miscarriage rates..
72:1425-1435.
2003
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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome..
72:1187-1199.
2003
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Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease..
72:804-811.
2003
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Significant linkage of Parkinson disease to chromosome 2q36-37..
72:1053-1057.
2003
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Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes..
72:539-548.
2003
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HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course..
72:710-716.
2003
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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2..
72:650-658.
2003
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Informative missingness in genetic association studies: case-parent designs..
72:671-680.
2003
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Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)..
72:429-437.
2003
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myotilin Mutation found in second pedigree with LGMD1A..
71:1428-1432.
2002
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A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)..
71:1189-1194.
2002
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Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure..
71:906-922.
2002
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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance..
71:22-29.
2002
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Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations..
71:124-135.
2002
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Presence of large deletions in kindreds with autism..
71:100-115.
2002
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A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa..
70:1545-1554.
2002
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A major predisposition locus for severe obesity, at 4p15-p14..
70:1459-1468.
2002
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A rheostat model for a rapid and reversible form of imprinting-dependent evolution..
70:1389-1397.
2002
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PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study..
70:1089-1095.
2002
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Age at onset in two common neurodegenerative diseases is genetically controlled..
70:985-993.
2002
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Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1..
70:955-964.
2002
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Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder..
70:1058-1061.
2002
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Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis..
70:708-717.
2002
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Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse..
70:324-335.
2002
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A second leaky splice-site mutation in the spastin gene..
69:1407-1409.
2001
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A comparison of single nucleotide polymorphism(SNP) and microsatellite genome scans for May-Hegglin anomaly(MHA)..
69:181-181.
2001
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A familial chordoma locus maps to chromosome 7q33..
69:512-512.
2001
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Association of tau with late-onset Parkinson disease..
69:511-511.
2001
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Clinical applications: An interactive clinical data management system for genetic studies..
69:503-503.
2001
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Complete genomic screen in idiopathic Parkinson disease..
69:513-513.
2001
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Correlation between linkage and association tests in families..
69:511-511.
2001
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Development and characterization of a conditional M6p/Igf2r knockout mouse..
69:363-363.
2001
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Familial pulmonary fibrosis in the USA..
69:285-285.
2001
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Identification of candidate genes for Parkinson's Disease (PD) by profiling gene exoression in the substantia nigra..
69:562-562.
2001
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Identification of gene locations from maximum likelihood ASP linkage analysis: What lessons can we learn from peak shape?.
69:508-508.
2001
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Mosaicism for two de novo supernumerary markers derived from chromosomes 18 and 13..
69:318-318.
2001
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Multiple copies of SHOX does not overcompensate for the loss of Yq in a male with short stature and iso Yp..
69:316-316.
2001
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Mutation screening of caveolin-3 and myotilin in autosomal dominant limb girdle muscular dystrophy and other dominant myopathies..
69:625-625.
2001
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NNATresides in a micro-imprinted domain on human chromosome 20q11.2..
69:346-346.
2001
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No evidence for involvement of PPARG in neural tube defect families..
69:656-656.
2001
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Phenotype stratification of linkage analysis in primary open-angle glaucoma (POAG): Evidence for age of onset heterogeneity..
69:516-516.
2001
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Phenotypic heterogeneity in lymphedema-distichiasis with FOXC2 mutations..
69:631-631.
2001
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Polyglutamine Binding Peptide 1 (QBP1) inhibits polyglutamine aggregation and cytotoxicity in vitro and in an in vivo disease model..
69:211-211.
2001
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Power of the ordered subset method for detection and localization of genes in linkage analysis of complex traits..
69:529-529.
2001
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Reynolds acrofacial dysostosis: Report of an additional family..
69:292-292.
2001
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Using genetic, radiation hybrid, and sequence maps comparisons to analyze recombination and gene density..
69:457-457.
2001
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Vasomotor instability in chromosome 22q11 deletion..
69:283-283.
2001
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Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33..
69:454-460.
2001
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Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia..
68:1077-1085.
2001
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A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases..
68:927-936.
2001
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Analysis of the prostate cancer-susceptibility locus HPC20 in 172 families affected by prostate cancer..
68:795-801.
2001
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Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci..
68:606-616.
2001
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A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis..
68:491-494.
2001
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Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9..
67:1121-1128.
2000
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The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes..
67:1174-1185.
2000
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The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci..
67:1186-1200.
2000
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Analysis of the human alpha-synuclein promoter..
67:194-194.
2000
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Concordance for cardiovascular risk factors in affected sib pairs (ASPs) with early-onset coronary artery disease (CAD)..
67:212-212.
2000
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Detection by newborn screening of asymptomatic, putative short-chain acylCoA dehydrogenase (SCAD) deficiency..
67:278-278.
2000
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Does every neonate with Down syndrome need an echocardiogram?.
67:115-115.
2000
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Evaluation of elevated hydroxyisovalerylcarnitine in the newborn screen by tandem mass spectrometry..
67:292-292.
2000
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Gene therapy with adeno-associated virus (AAV) vectors in canine glycogen storage disease, type Ia..
67:432-432.
2000
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Identification of a novel imprinted domain at human chromosome 14q32..
67:190-190.
2000
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Imprinting of PEG3, the human homolog of a gene involved in nurturing behaviour..
67:189-189.
2000
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Modification of the CFTR splicing pattern by cellular and viral splicing factors in CFTR expressing cells..
67:38-38.
2000
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Molecular analysis of myotilin, the gene responsible for LGMD1A..
67:390-390.
2000
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Mutation analysis of the spastin gene in hereditary spastic paraplegia type 4 - evidence of aberrant transcript splicing caused by mutations in noncanonical splice site sequences..
67:375-375.
2000
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Parkin mutations and idiopathic Parkinson disease (PD)..
67:19-19.
2000
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Refinement of a locus on chromosome 16q24.3 for Lymphedema-Distichiasis..
67:313-313.
2000
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Unusual X-linked SCID phenotype due to mutation of the poly-A addition signal of IL2RG..
67:50-50.
2000
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Repeat polymorphisms within gene regions: phenotypic and evolutionary implications..
67:345-356.
2000
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SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease..
67:383-394.
2000
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Genomewide search for type 2 diabetes susceptibility genes in four American populations..
66:1871-1881.
2000
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Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity..
66:922-932.
2000
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A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27..
66:469-479.
2000
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X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3..
66:461-468.
2000
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Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees..
65:1672-1679.
1999
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Affected sibpair analysis: Exploring the efficiency of fine mapping in the presence of genotyping error..
65:A99-A99.
1999
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Association between changes with time in the level of aberrantly spliced CFTR mRNA, and CF lung disease severity..
65:A288-A288.
1999
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Chromosome 7q22 is a likely site of a tumor suppressor gene in malignant myeloid diseases..
65:A322-A322.
1999
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DataTracker: Comprehensive software for data quality control protocols in complex disease studies..
65:A442-A442.
1999
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Genes, demography, and life span: the contribution of demographic data in genetic studies on aging and longevity..
65:1178-1193.
1999
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Genomic screen for linkage of May-Hegglin anomaly..
65:A258-A258.
1999
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Identification of QBP1, a synthetic peptide that preferentially binds expanded polyglutamine domain by phage display technique..
65:A463-A463.
1999
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In vivo modulation of the splicing pattern of CFTR exon 9 by cellular and viral splicing factors..
65:A502-A502.
1999
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Positional cloning of the gene responsible for Limb Girdle Muscular Dystrophy 1A..
65:A109-A109.
1999
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Use of optical scanning capabilities to ensure accurate and efficient data entry in a multicenter genetic study..
65:A253-A253.
1999
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Genetic linkage of hyper-IgE syndrome to chromosome 4..
65:735-744.
1999
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Genetics of Angelman syndrome..
65:1-6.
1999
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Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder..
64:1511-1523.
1999
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Sex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers..
64:934-938.
1999
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Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7..
64:556-562.
1999
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A second locus for familial high myopia maps to chromosome 12q..
63:1419-1424.
1998
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Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly..
63:1316-1328.
1998
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A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic..
63:976-983.
1998
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Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles..
63:1049-1059.
1998
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Examination of factors associated with instability of the FMR1 CGG repeat..
63:776-785.
1998
-
Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene..
63:912-917.
1998
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Evidence that a locus for familial high myopia maps to chromosome 18p..
63:109-119.
1998
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Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes..
62:1507-1515.
1998
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Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy..
62:941-949.
1998
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A model for hepatic gene therapy in cyclic neutropenia with adenoassociated virus (AAV) vectors..
61:A356-A356.
1997
-
Chorea-acanthocytosis: genetic linkage to chromosome 9q21..
61:899-908.
1997
-
Investigations of candidate genes for neural tube defects implicated from mouse models..
61:A286-A286.
1997
-
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23..
61:909-917.
1997
-
Linkage of salt sensitivity and obesity phenotypes in African Americans to marker loci on chromosome 5..
61:A280-A280.
1997
-
Embryonic lethal abnormal visual RNA-binding proteins involved in growth, differentiation, and posttranscriptional gene expression..
61:273-278.
1997
-
Spectrum of mutations in the Batten disease gene, CLN3..
61:310-316.
1997
-
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2..
61:60-67.
1997
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Familial transmission of the FMR1 CGG repeat..
59:1252-1261.
1996
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Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype..
59:1306-1312.
1996
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Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation..
59:1040-1047.
1996
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Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations..
59:167-175.
1996
-
Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion..
58:1231-1238.
1996
-
Linkage of a gene for macular corneal dystrophy to chromosome 16..
58:757-762.
1996
-
Prenatal diagnosis of 45,X/46,XX..
58:634-636.
1996
-
Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome..
57:1414-1425.
1995
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DEVELOPMENT OF T-CELL FUNCTION AFTER POSTNATAL THYMIC TRANSPLANTATION FOR DIGEORGE-SYNDROME.
57:64-64.
1995
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FREQUENT ALLELIC DELETION OF CHROMOSOME 1P IN PRIMARY OVARIAN-CANCER - MAPPING OF 2 TUMOR SUPRESSOR GENE REGIONS AND PRELIMINARY-ANALYSIS OF CANDIDATE GENES.
57:11-11.
1995
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GASTROSCHISIS - INTRAABDOMINAL BOWELS DILATATION MAY PREDICT SHORT-BOWEL SYNDROME.
57:1651-1651.
1995
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Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus..
57:766-771.
1995
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TRANSDUCTION OF HEPATOCYTES IN-VIVO WITH ADENOASSOCIATED VIRUS VECTORS AS A MODEL FOR HEPATIC GENE-THERAPY.
57:218-218.
1995
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2 MUTATIONAL HOTSPOTS IN THE INTERLEUKIN-2 RECEPTOR-GAMMA CHAIN GENE CAUSING HUMAN X-LINKED SEVERE COMBINED IMMUNODEFICIENCY.
57:564-571.
1995
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Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome..
57:661-666.
1995
-
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency..
57:564-571.
1995
-
CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens..
56:1359-1366.
1995
-
Marker chromosome evolution in a 3 generation family.
57:590-590.
1995
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Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene..
54:975-988.
1994
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Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency..
54:820-830.
1994
-
Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1..
54:88-94.
1994
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Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome..
53:800-809.
1993
-
Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients..
53:881-888.
1993
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ANALYSIS OF THE GENETIC-RELATIONSHIP BETWEEN BREAST AND OVARIAN-CANCER.
53:787-787.
1993
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COMPARATIVE FLUORESCENT IN-SITU HYBRIDIZATION AND STANDARD CYTOGENETIC ANALYSIS IN MENINGIOMAS.
53:302-302.
1993
-
COMPOUND HETEROZYGOSITY FOR SPLICING MUTATIONS IN ADENOSINE DEAMINASE-DEFICIENT SIBS WITH DISPARATE CLINICAL PHENOTYPES.
53:886-886.
1993
-
FISH DETECTION OF TISSUE-SPECIFIC MOSAICISM FOR TRISOMY-18 IN AN INFANT WITH MULTIPLE CONGENITAL-ANOMALIES.
53:627-627.
1993
-
INSTABILITY OF MICROSATELLITE SEQUENCES IN CULTURED-CELLS.
53:21-21.
1993
-
INTERPHASE CYTOGENETIC ANALYSIS FOR TRISOMY-12 IN OVARIAN SEX CORD-STROMAL TUMORS.
53:364-364.
1993
-
MICROSATELLITE INSTABILITY IN SPORADIC ENDOMETRIAL CARCINOMAS AND THOSE ASSOCIATED WITH HNPCC.
53:22-22.
1993
-
OUTCOME OF PREGNANCIES WITH ELEVATION OF BOTH MATERNAL SERUM ALPHA-FETOPROTEIN (AFP) AND HUMAN CHORIONIC-GONADOTROPIN (HCG).
53:1426-1426.
1993
-
Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries..
52:1067-1073.
1993
-
A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Wiedemann and associated embryonal tumor disease loci..
52:915-921.
1993
-
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood..
52:958-966.
1993
-
BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis..
52:792-798.
1993
-
Linkage localization of X-linked Charcot-Marie-Tooth disease..
52:312-318.
1993
-
Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16..
52:89-95.
1993
-
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency..
51:763-772.
1992
-
Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium..
51:396-403.
1992
-
Recombination of 4p16 DNA markers in an unusual family with Huntington disease..
50:1218-1230.
1992
-
Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita..
50:896-901.
1992
-
Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency..
50:229-233.
1992
-
PRENATAL-DIAGNOSIS OF DUCHENNE MUSCULAR-DYSTROPHY BY FETAL MUSCLE BIOPSY.
49:222-222.
1991
-
Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage..
48:1034-1050.
1991
-
Linkage analysis of familial Alzheimer disease, using chromosome 21 markers..
48:563-583.
1991
-
Alcohol and aldehyde dehydrogenase genotypes and alcoholism in chinese men.
48:677-681.
1991
-
Definitive prenatal diagnosis for type III glycogen storage disease..
47:735-739.
1990
-
Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene..
47:202-217.
1990
-
Evaluating genetic association among ovarian, breast, and endometrial cancer: evidence for a breast/ovarian cancer relationship..
45:521-529.
1989
-
A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution..
45:354-361.
1989
-
Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG..
45:448-457.
1989
-
A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene..
44:33-37.
1989
-
Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1)..
44:30-32.
1989
-
Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I..
44:25-29.
1989
-
Uniparental disomy as a mechanism for human genetic disease..
42:217-226.
1988
-
Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease..
41:1002-1015.
1987
-
Familial inheritance of a DXS164 deletion mutation from a heterozygous female..
41:138-144.
1987
-
The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14..
40:351-364.
1987
-
CHARACTERIZATION OF POLY DA POLY DT TRACTS IN THE HUMAN GENOME.
35:A178-A178.
1983
-
Evidence that structural variants within the human delta-globin protein may reflect genetic interactions between the delta- and beta-globin genes..
34:820-823.
1982
-
Huntington disease and Tourette syndrome. I. Electron spin resonance of bed ghosts..
33:166-174.
1981
-
Population studies of pepsinogen polymorphism..
25:178-180.
1973
-
Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma..
63:1549-1552.
1998
-
The distinction between juvenile and adult-onset primary open-angle glaucoma..
58:243-244.
1996
-
A Genomic screen reveals evidence for novel SPG loci.
2003
-
A genomic screen of essential tremor.
2003
-
A high throughput genetic association study of tractable genes in asthma.
2003
-
An intragenic modifier of hereditary spastic paraplegia due to spastin gene mutation suggests a role for cyclin-dependent kinase 5 in HSP pathogenesis.
2003
-
Astrocytic expression of the cerebral cavernous malformations type 1 gene, KRIT1, and its interaction partner ICAP1 suggests a role in formation or maintenance of the blood-brain barrier.
2003
-
B-CAM/LU modifies sickle cell disease severity
2003
-
Characterization of novel 4 and 6 Mb LCR-mediated microduplications involving the 22q11.2 DiGeorge/velocardiofacial syndrome region.
2003
-
Combinatorial mismatch scan for Successful Aging Loci in the Amish.
2003
-
Comprehensive analysis of candidate modifier genes for multiple sclerosis (MS) on chromosome 19q13
2003
-
DNA banking study in an ethnically diverse urban university hospital.
2003
-
Defining the linkage disequilibrium region containing the Tau gene and identifying haplotype tagging polymorphisms
2003
-
Examination of VCAM1 as a modulator of stroke risk in sickle cell disease
2003
-
Examination of multilocus association of the GABAA receptor subunit genes in multiplex autism families.
2003
-
Functional analysis of yeast and human NADH kinase in Saccharomyces cerevisiae: implications for mitochondrial genome stability and neurodegenerative disease.
2003
-
Genetic heterogeneity for pyridoxine dependent seizures.
2003
-
Genetic heterogeneity in familial chordoma
2003
-
Genomic convergence: Identification of candidate genes for Parkinson Disease (PD) using genetic linkage and gene expression in the substantia nigra
2003
-
Glutathione S-transferase, omega-1 (GSTO1) modifies age at onset of Alzheimer disease and Parkinson disease.
2003
-
High-throughput genotyping for identification of genes underlying coronary heart disease: Cumulative perspective from 222 polymorphisms in 111 candidate genes.
2003
-
Identification of COL24A1 as a novel candidate gene for heart failure in mice and humans
2003
-
Identification of gene locations from maximum likelihood ASP linkage analysis: Are there features of the lod score curve that distinguish regions with two loci?
2003
-
Investigating candidate genes and novel ESTS in primary open angle glaucoma.
2003
-
Investigation of TGF-beta plasma levels as a modifier of the phenotype of hereditary hemorrhagic telangiectasia.
2003
-
Investigation of parent of origin effects for Autism susceptibility loci on chromosomes 2, 7 and 15.
2003
-
Investigation of the role of mannose-6-phosphate receptor (MPR300) in enzyme uptake and glycogen clearance in Pompe disease
2003
-
Molecular analysis of the glomulin gene in glomuvenous malformation families
2003
-
Mosaicism for FMR1 gene full mutation and deletion in a fragile X female.
2003
-
Mutations in SMAD4 cause a combined Hereditary Hemorrhage Telangiectasia-juvenile Polyposis syndrome.
2003
-
Optineurin sequence variants do not contribute to high-tension primary open-angle glaucoma.
2003
-
Reduction in the minimal candidate region of cerebral cavernous malformations type 3 (CCM3) on chromosome 3q26.31-27.3.
2003
-
Significant association between single-nucleotide polymorphisms in the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease.
2003
-
The genetics of bleeding after cardiac surgery
2003
-
Using genomic convergence to identify susceptibility genes for age-related macular degeneration (AMD)
2003
-
A genome-wide scan in 433 families with early-onset coronary artery disease.
2002
-
A genotype-based association test for general pedigrees: The geno-PDT.
2002
-
A high throughput fluorescent assay for the detection of glutathione S-transferase polymorphic alleles
2002
-
A kinesin heavy chain (KIF5A) mutation in Hereditary Spastic Paraplegia (SPG10).
2002
-
A mouse model of cerebral cavernous malformations generated by targeted mutation of the mouse Ccm1 (Krit1) gene.
2002
-
A murine model for hereditary hemorrhagic telangiectasia type 2.
2002
-
A study of the neuropsychological manifestations in children with 22q11 deletion syndrome.
2002
-
B-cell prolymphocytic leukemia with translocation 11;14: is it B-PLL or is it a leukemic variant of mantle cell lymphoma?
2002
-
BRCA1 deficient cells have increased fragile site expression that is complemented by wild type BRCA1.
2002
-
CENP-A chromatin contains "euchromatic" histone modifications.
2002
-
Cytogenetic and FISH analysis of an interstitial 1q42.3-q44 deletion.
2002
-
DNA sequence variants in optineurin in patients with primary open angle glaucoma and low tension glaucoma
2002
-
Exclusion of maternal uniparental disomy of chromosome 14 in Prader-Willi syndrome referrals using a rapid methylation PCR assay.
2002
-
Further evidence of a tumor suppressor gene at 7q22 in malignant myeloid diseases.
2002
-
Identification of a Col2A1 mutation in a Micronesian family with autosomal dominant precocious osteoarthritis.
2002
-
Identification of candidate genes for Parkinson disease (PD)by the convergence of genetic linkage and association data with gene expression in the substantia nigra.
2002
-
Linkage of autistic disorder to chromosome 15q11-q13 using phenotypic subtypes.
2002
-
Mosaicism and endometrial adenocarcinoma in an adult Turner syndrome patient.
2002
-
No association between the APOE gene and autistic disorder.
2002
-
Optineurin sequence variants do not predispose to primary open angle glaucoma.
2002
-
Ordered subset analysis in primary open-angle glaucoma (POAG): Evidence for linkage to chromosomes 14 and 15.
2002
-
Ordered subsets analysis in Alzheimer disease: Refined linkage to 9p and novel linkage to 2q and 15q.
2002
-
Polyglutamine Binding Peptide 1 (QBP1) inhibits polyglutamine aggregation and rescues neurological phenotypes in Drosophila polyglutarnine disease models.
2002
-
Primary open-angle glaucoma (POAG) candidate gene analysis.
2002
-
Software for simulation studies of complex traits: SIMLA.
2002
-
Transgenic models of LGMD1A: expression of altered human myotilin results in a dominant-negative phenotype.
2002
-
An hPer2 phosphorylation site mutation in familial Advanced Sleep-Phase Syndrome.
2001
-
Association of the apolipoprotein E (APOE) gene with age-related macular degeneration (AMD): A pooled case-control study.
2001
-
Further characterization of odontotrichomelic syndrome.
2001
-
International network to investigate the genetics of Chronic Obstructive Pulmonary Disease.
2001
-
Novel myocilin mutations in West African individuals with primary open angle glaucoma.
2001
-
The CCM1 gene product KRIT1 interacts with the integrin binding protein ICAP-1.
2001
-
A genomic screen for dementia in an extended Amish family.
2000
-
A genomic screen for multiple sclerosis loci in a San Marino population supports the presence of a locus on 19q.
2000
-
A small duplication of the terminal region of chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis.
2000
-
BRCA1 copy number in paraffin embedded cancer tissue samples of known BRCA1 and BRCA2 mutation carriers using a BRCA1 FISH probe.
2000
-
Confirmatory evidence of linkage for autism to 7q based on combined analysis of three independent data sets.
2000
-
CpG island and gene mapping in the Austistic Disorder region on chromosome 15q11-13.
2000
-
Examination of epigenetic factors and gene-gene interactions influencing genetic susceptibility at chromosomes 7 and 15 for autistic disorder.
2000
-
Fine mapping and genetic heterogeneity in autosomal dominant familial spastic paraplegia.
2000
-
Fine-mapping the familial focal segmental glomerulosclerosis locus on chromosome 11q - Search for the genetic mutation.
2000
-
Isolation and analysis of Autism candidate genes on 7q.
2000
-
Phenotypic characteristics of hereditary benign intraepithelial dyskeratosis (HBID).
2000
-
A second locus for inherited venous malformations maps to chromosome 1p.
1999
-
Autistic Disorder and chromosome 7: Analysis of an inversion breakpoint in a multiplex family.
1999
-
Evidence for a paternal effect on chromosome 7 in Autistic Disorder.
1999
-
Linkage of a gene causing familial focal segmental glomerulosclerosis.
1999
-
Loss of heterozygosity of 5q in sporadic hemangiomas suggests that somatic mutations are involved with hemangioma development.
1999
-
Physical and transcript map of CCM1 candidate interval on chromosome 7q.
1999
-
Apolipoprotein E allele frequencies in a population-based sample of cognitively intact Caucasians and African Americans.
1997
-
Cystatin B mutations in Unverricht-Lundborg Progressive Myoclonus Epilepsy (EPM1) patients: intrafamilial instability and genotype/phenotype correlations.
1997
-
Description of a novel hereditary form of capillary hemangioma and genetic mapping of predisposing chromosomal loci.
1997
-
Familial aggregation of focal segmental glomerulosclerosis.
1997
-
Genetic heterogeneity in familial venous malformations syndrome (FVM)
1997
-
Genomic organization of RET-signaling pathway genes and mutation analysis in Hirschsprung disease patients.
1997
-
Identification of a new member of the myotonic dystrophy protein kinase gene family.
1997
-
Multigenic inheritance of Hirschsprung disease.
1997
-
Mutation and expression analysis of the endoglin gene in Hereditary Hemorrhagic Telangiectasia reveals null alleles: A new model for pathogenesis.
1997
-
6 ADDITIONAL MUTATIONS IN THE ENDOGLIN GENE IN HEREDITARY HEMORRHAGIC TELANGIECTASIA TYPE-1 SUGGEST A DOMINANT-NEGATIVE EFFECT OF RECEPTOR FUNCTION
1995
-
A 2ND LOCUS FOR HEREDITARY HEMORRHAGIC TELANGIECTASIA MAPS TO CHROMOSOME-12
1995
-
A GENE FOR FAMILIAL CEREBRAL CAVERNOUS MALFORMATION MAPS TO A 4-CM REGION OF CHROMOSOME 7Q IN SEVERAL FAMILIES
1995
-
IDENTIFICATION OF CENTROMERE-SPECIFIC ANTIGENS IN DICENTRIC ROBERTSONIAN TRANSLOCATIONS - CENP-C AND CENP-E ARE ESSENTIAL COMPONENTS OF FUNCTIONAL CENTROMERES
1995
-
MUTATION SCREENING OF THE RET, EDNRB AND ET3 GENES IN HIRSCHSPRUNG PATIENTS
1995
-
A GENETIC-LOCUS FOR HIRSCHSPRUNG DISEASE IN THE PERICENTROMERIC REGION OF CHROMOSOME-10
1993
-
IDENTIFICATION OF SUPERNUMERARY AUTOSOMAL CHROMOSOMES AND UNBALANCED DE-NOVO REARRANGEMENTS WITH FISH - EXPERIENCE WITH 78 CASES
1993
-
IDENTITY-BY-DESCENT MAPPING OF HIRSCHSPRUNG DISEASE IN A LARGE MENNONITE KINDRED
1993
-
MOLECULAR CYTOGENETIC ASSESSMENT OF CENTROMERIC ACTIVITY IN DICENTRIC ROBERTSONIAN TRANSLOCATIONS
1993
-
HIRSCHSPRUNG DISEASE - LINKAGE ANALYSIS OF CANDIDATE REGIONS ON HUMAN-CHROMOSOME, CHROMOSOME-13 AND CHROMOSOME-21
1991