American Journal of Human Genetics

Publication Venue For
- Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia.. 103:421-430. 2018
- IRF2BPL Is Associated with Neurological Phenotypes.. 103:456. 2018
- Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.. 103:457. 2018
- An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome.. 103:232-244. 2018
- IRF2BPL Is Associated with Neurological Phenotypes.. 103:245-260. 2018
- Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.. 102:744-759. 2018
- 2017 Curt Stern Award: The Complexity of Simple Genetics.. 102:355-358. 2018
- A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.. 102:375-400. 2018
- Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.. 102:494-504. 2018
- Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.. 102:364-374. 2018
- Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.. 102:233-248. 2018
- Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.. 102:44-57. 2018
- Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. 101:1034-1034. 2017
- Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.. 101:789-802. 2017
- Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".. 101:815-823. 2017
- Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.. 101:503-515. 2017
- Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.. 101:616-622. 2017
- The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.. 101:564-577. 2017
- RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.. 101:466-477. 2017
- MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.. 100:843-853. 2017
- De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.. 100:689. 2017
- Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.. 100:666-675. 2017
- A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 100:343-351. 2017
- A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.. 100:343-351. 2017
- De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.. 100:352-363. 2017
- The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.. 100:185-192. 2017
- A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.. 100:128-137. 2017
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. 100:179-179. 2017
- De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.. 100:179. 2017
- De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.. 99:991-999. 2016
- REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.. 99:877-885. 2016
- De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.. 99:711-719. 2016
- Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.. 99:318-336. 2016
- De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.. 99:287-298. 2016
- Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.. 99:423-429. 2016
- Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.. 99:521. 2016
- Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. 99:246-246. 2016
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.. 99:174-187. 2016
- DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis.. 98:680-696. 2016
- De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.. 97:904-913. 2015
- Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.. 97:837-847. 2015
- Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.. 97:790-800. 2015
- TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.. 97:922-932. 2015
- Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.. 97:744-753. 2015
- Incorporating Functional Information in Tests of Excess De Novo Mutational Load. 97:272-283. 2015
- Incorporating Functional Information in Tests of Excess De Novo Mutational Load.. 97:272-283. 2015
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.. 97:343-352. 2015
- The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.. 97:111-124. 2015
- Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.. 96:883-893. 2015
- A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.. 96:784-796. 2015
- Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.. 96:816-825. 2015
- Mutations in the endothelin receptor type a cause mandibulofacial dysostosis with alopecia. 96:519-531. 2015
- Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.. 96:519-531. 2015
- De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 96:462-473. 2015
- De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.. 96:462-473. 2015
- CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 96:245-257. 2015
- CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.. 96:245-257. 2015
- Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.. 96:283-294. 2015
- DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.. 96:81-92. 2015
- Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.. 95:565-578. 2014
- A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.. 95:509-520. 2014
- De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.. 95:360-370. 2014
- Gene-Age Interactions in Blood Pressure Regulation: A Large-Scale Investigation with the CHARGE, Global BPgen, and ICBP Consortia. 95:24-38. 2014
- Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.. 95:24-38. 2014
- Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.. 95:85-95. 2014
- Utilizing population controls in rare-variant case-parent association tests. 94:845-853. 2014
- Mutations in EMP2 cause childhood-onset nephrotic syndrome.. 94:884-890. 2014
- Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 94:677-694. 2014
- Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.. 94:677-694. 2014
- Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. 94:745-754. 2014
- Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.. 94:745-754. 2014
- Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.. 94:223-232. 2014
- Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. 94:73-79. 2014
- Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.. 94:73-79. 2014
- Defects in the IFT-B component IFT172 cause jeune and mainzer-saldino syndromes in humans. 93:915-925. 2013
- Scrib and puf60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-Number variant. 93:798-811. 2013
- Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.. 93:915-925. 2013
- SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant. 93:994-994. 2013
- SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.. 93:798-811. 2013
- ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.. 93:357-367. 2013
- Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.. 93:249-263. 2013
- Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.. 93:264-277. 2013
- ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.. 93:336-345. 2013
- Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria. 92:627-631. 2013
- 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
- Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.. 92:439-447. 2013
- Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.. 92:210-220. 2013
- Deep whole-genome sequencing of 100 southeast Asian Malays.. 92:52-66. 2013
- AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes.. 91:890-896. 2012
- Using ERDS to infer copy-number variants in high-coverage genomes.. 91:408-421. 2012
- Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.. 91:293-302. 2012
- Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.. 91:303-312. 2012
- Rare de novo germline copy-number variation in testicular cancer.. 91:379-383. 2012
- Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.. 90:533-539. 2012
- Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.. 90:457-466. 2012
- A permutation procedure to correct for confounders in case-control studies, including tests of rare variation. 91:215-223. 2012
- Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy 2012
- Exome Sequencing Followed by Large-Scale Genotyping Suggests a Limited Role for Moderately Rare Risk Factors of Strong Effect in Schizophrenia 2012
- PSORS2 is due to mutations in CARD14. 90:784-795. 2012
- Disruption of a ciliary B9 protein complex causes Meckel syndrome.. 89:94-110. 2011
- 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
- Inferring genetic ancestry: opportunities, challenges, and implications.. 86:661-673. 2010
- Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.. 86:707-718. 2010
- Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.. 86:45-53. 2010
- Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selection.. 85:923-928. 2009
- A genome-wide in vitro bacterial-infection screen reveals human variation in the host response associated with inflammatory disease.. 85:214-227. 2009
- Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.. 84:35-43. 2009
- Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3. 84:519-523. 2009
- CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.. 83:559-571. 2008
- Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.. 82:1193-1201. 2008
- Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.. 82:283-289. 2008
- Response to Lee et al.. 82:526-528. 2008
- 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
- Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.. 81:1042-1049. 2007
- Clinical and molecular phenotype of Aicardi-Goutieres syndrome.. 81:713-725. 2007
- 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
- Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.. 81:367-374. 2007
- A simple and improved correction for population stratification in case-control studies.. 80:921-930. 2007
- Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.. 80:650-663. 2007
- 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
- Deletions in CCM2 are a common cause of cerebral cavernous malformations.. 80:69-75. 2007
- 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
- X-APL: an improved family-based test of association in the presence of linkage for the X chromosome.. 80:59-68. 2007
- 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
- X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.. 79:493-499. 2006
- Epigenetic regulation of human gamma-glutamyl hydrolase activity in acute lymphoblastic leukemia cells.. 79:264-274. 2006
- Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.. 79:365-369. 2006
- DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.. 79:136-142. 2006
- Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.. 78:852-864. 2006
- A high-density screen for linkage in multiple sclerosis.. 77:454-467. 2005
- Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.. 77:377-388. 2005
- 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
- Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.. 77:252-264. 2005
- 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
- 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
- Embracing our duty. 76:547-. 2005
- Genetic investigation of quantitative traits related to autism: use of multivariate polygenic models with ascertainment adjustment.. 76:68-81. 2005
- A second-generation genomic screen for multiple sclerosis.. 75:1070-1078. 2004
- A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.. 75:436-447. 2004
- Are sequence family variants useful for identifying deletions in the human Y chromosome?. 75:514-517. 2004
- Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.. 75:174-189. 2004
- The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.. 75:82-91. 2004
- DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).. 74:1128-1135. 2004
- Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease.. 74:1121-1127. 2004
- Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.. 74:1051-1056. 2004
- The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus.. 74:931-944. 2004
- Premature myocardial infarction novel susceptibility locus on chromosome 1P34-36 identified by genomewide linkage analysis.. 74:262-271. 2004
- Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans.. 74:160-167. 2004
- Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.. 73:1459-1464. 2003
- Accounting for linkage in family-based tests of association with missing parental genotypes.. 73:1016-1026. 2003
- Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.. 73:1027-1040. 2003
- Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.. 73:1041-1051. 2003
- A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.. 73:271-284. 2003
- Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.. 73:397-403. 2003
- Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.. 72:1187-1199. 2003
- Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.. 72:804-811. 2003
- Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.. 72:539-548. 2003
- HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course.. 72:710-716. 2003
- Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.. 72:650-658. 2003
- Informative missingness in genetic association studies: case-parent designs.. 72:671-680. 2003
- Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).. 72:429-437. 2003
- myotilin Mutation found in second pedigree with LGMD1A.. 71:1428-1432. 2002
- A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).. 71:1189-1194. 2002
- Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure.. 71:906-922. 2002
- BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.. 71:22-29. 2002
- Presence of large deletions in kindreds with autism.. 71:100-115. 2002
- Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.. 71:168-173. 2002
- A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.. 70:1545-1554. 2002
- A rheostat model for a rapid and reversible form of imprinting-dependent evolution.. 70:1389-1397. 2002
- Age at onset in two common neurodegenerative diseases is genetically controlled.. 70:985-993. 2002
- Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.. 70:955-964. 2002
- Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.. 70:1058-1061. 2002
- Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis.. 70:708-717. 2002
- 2001 ASHG Presidential Address. On black boxes and storytellers: lessons learned in human genetics.. 70:285-296. 2002
- Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.. 70:324-335. 2002
- A second leaky splice-site mutation in the spastin gene.. 69:1407-1409. 2001
- A comparison of single nucleotide polymorphism(SNP) and microsatellite genome scans for May-Hegglin anomaly(MHA).. 69:181-181. 2001
- A familial chordoma locus maps to chromosome 7q33.. 69:512-512. 2001
- Association of tau with late-onset Parkinson disease.. 69:511-511. 2001
- Clinical applications: An interactive clinical data management system for genetic studies.. 69:503-503. 2001
- Complete genomic screen in idiopathic Parkinson disease.. 69:513-513. 2001
- Correlation between linkage and association tests in families.. 69:511-511. 2001
- Development and characterization of a conditional M6p/Igf2r knockout mouse.. 69:363-363. 2001
- Familial pulmonary fibrosis in the USA.. 69:285-285. 2001
- Identification of candidate genes for Parkinson's Disease (PD) by profiling gene exoression in the substantia nigra.. 69:562-562. 2001
- Identification of gene locations from maximum likelihood ASP linkage analysis: What lessons can we learn from peak shape?. 69:508-508. 2001
- Mosaicism for two de novo supernumerary markers derived from chromosomes 18 and 13.. 69:318-318. 2001
- 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
- Mutation screening of caveolin-3 and myotilin in autosomal dominant limb girdle muscular dystrophy and other dominant myopathies.. 69:625-625. 2001
- NNATresides in a micro-imprinted domain on human chromosome 20q11.2.. 69:346-346. 2001
- No evidence for involvement of PPARG in neural tube defect families.. 69:656-656. 2001
- Phenotype stratification of linkage analysis in primary open-angle glaucoma (POAG): Evidence for age of onset heterogeneity.. 69:516-516. 2001
- Phenotypic heterogeneity in lymphedema-distichiasis with FOXC2 mutations.. 69:631-631. 2001
- Polyglutamine Binding Peptide 1 (QBP1) inhibits polyglutamine aggregation and cytotoxicity in vitro and in an in vivo disease model.. 69:211-211. 2001
- Power of the ordered subset method for detection and localization of genes in linkage analysis of complex traits.. 69:529-529. 2001
- Reynolds acrofacial dysostosis: Report of an additional family.. 69:292-292. 2001
- Using genetic, radiation hybrid, and sequence maps comparisons to analyze recombination and gene density.. 69:457-457. 2001
- Vasomotor instability in chromosome 22q11 deletion.. 69:283-283. 2001
- Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33.. 69:454-460. 2001
- Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.. 68:1077-1085. 2001
- A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases.. 68:927-936. 2001
- Analysis of the prostate cancer-susceptibility locus HPC20 in 172 families affected by prostate cancer.. 68:795-801. 2001
- 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
- A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis.. 68:491-494. 2001
- Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.. 67:1121-1128. 2000
- 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
- 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
- Analysis of the human alpha-synuclein promoter.. 67:194-194. 2000
- Concordance for cardiovascular risk factors in affected sib pairs (ASPs) with early-onset coronary artery disease (CAD).. 67:212-212. 2000
- Detection by newborn screening of asymptomatic, putative short-chain acylCoA dehydrogenase (SCAD) deficiency.. 67:278-278. 2000
- Does every neonate with Down syndrome need an echocardiogram?. 67:115-115. 2000
- Evaluation of elevated hydroxyisovalerylcarnitine in the newborn screen by tandem mass spectrometry.. 67:292-292. 2000
- Gene therapy with adeno-associated virus (AAV) vectors in canine glycogen storage disease, type Ia.. 67:432-432. 2000
- Identification of a novel imprinted domain at human chromosome 14q32.. 67:190-190. 2000
- Imprinting of PEG3, the human homolog of a gene involved in nurturing behaviour.. 67:189-189. 2000
- Modification of the CFTR splicing pattern by cellular and viral splicing factors in CFTR expressing cells.. 67:38-38. 2000
- Molecular analysis of myotilin, the gene responsible for LGMD1A.. 67:390-390. 2000
- 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
- Parkin mutations and idiopathic Parkinson disease (PD).. 67:19-19. 2000
- Refinement of a locus on chromosome 16q24.3 for Lymphedema-Distichiasis.. 67:313-313. 2000
- Unusual X-linked SCID phenotype due to mutation of the poly-A addition signal of IL2RG.. 67:50-50. 2000
- Repeat polymorphisms within gene regions: phenotypic and evolutionary implications.. 67:345-356. 2000
- SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease.. 67:383-394. 2000
- Genomewide search for type 2 diabetes susceptibility genes in four American populations.. 66:1871-1881. 2000
- Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity.. 66:922-932. 2000
- A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.. 66:469-479. 2000
- X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.. 66:461-468. 2000
- 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
- Affected sibpair analysis: Exploring the efficiency of fine mapping in the presence of genotyping error.. 65:A99-A99. 1999
- Association between changes with time in the level of aberrantly spliced CFTR mRNA, and CF lung disease severity.. 65:A288-A288. 1999
- Chromosome 7q22 is a likely site of a tumor suppressor gene in malignant myeloid diseases.. 65:A322-A322. 1999
- DataTracker: Comprehensive software for data quality control protocols in complex disease studies.. 65:A442-A442. 1999
- Genes, demography, and life span: the contribution of demographic data in genetic studies on aging and longevity.. 65:1178-1193. 1999
- Genomic screen for linkage of May-Hegglin anomaly.. 65:A258-A258. 1999
- Identification of QBP1, a synthetic peptide that preferentially binds expanded polyglutamine domain by phage display technique.. 65:A463-A463. 1999
- In vivo modulation of the splicing pattern of CFTR exon 9 by cellular and viral splicing factors.. 65:A502-A502. 1999
- Positional cloning of the gene responsible for Limb Girdle Muscular Dystrophy 1A.. 65:A109-A109. 1999
- Use of optical scanning capabilities to ensure accurate and efficient data entry in a multicenter genetic study.. 65:A253-A253. 1999
- Genetic linkage of hyper-IgE syndrome to chromosome 4.. 65:735-744. 1999
- Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.. 64:1511-1523. 1999
- Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation.. 64:759-767. 1999
- Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.. 64:556-562. 1999
- A second locus for familial high myopia maps to chromosome 12q.. 63:1419-1424. 1998
- Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.. 63:1316-1328. 1998
- 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
- Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.. 63:1049-1059. 1998
- 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
- Evidence that a locus for familial high myopia maps to chromosome 18p.. 63:109-119. 1998
- The spreading of X inactivation into autosomal material of an x;autosome translocation: evidence for a difference between autosomal and X-chromosomal DNA.. 63:20-28. 1998
- 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
- 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
- Familial transmission of the FMR1 CGG repeat.. 59:1252-1261. 1996
- Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype.. 59:1306-1312. 1996
- Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.. 59:1040-1047. 1996
- Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations.. 59:167-175. 1996
- Heritability of X chromosome--inactivation phenotype in a large family.. 58:1111-1119. 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
- Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation.. 58:154-160. 1996
- Prenatal diagnosis of 45,X/46,XX [1]. 58:634-636. 1996
- Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome.. 57:1414-1425. 1995
- DEVELOPMENT OF T-CELL FUNCTION AFTER POSTNATAL THYMIC TRANSPLANTATION FOR DIGEORGE-SYNDROME. 57:64-64. 1995
- 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
- GASTROSCHISIS - INTRAABDOMINAL BOWELS DILATATION MAY PREDICT SHORT-BOWEL SYNDROME. 57:1651-1651. 1995
- Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.. 57:766-771. 1995
- TRANSDUCTION OF HEPATOCYTES IN-VIVO WITH ADENOASSOCIATED VIRUS VECTORS AS A MODEL FOR HEPATIC GENE-THERAPY. 57:218-218. 1995
- 2 MUTATIONAL HOTSPOTS IN THE INTERLEUKIN-2 RECEPTOR-GAMMA CHAIN GENE CAUSING HUMAN X-LINKED SEVERE COMBINED IMMUNODEFICIENCY. 57:564-571. 1995
- Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C). 57:732-734. 1995
- 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
- Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.. 55:87-95. 1994
- 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
- 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
- ANALYSIS OF THE GENETIC-RELATIONSHIP BETWEEN BREAST AND OVARIAN-CANCER. 53:787-787. 1993
- 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
- Nondisjunction of chromosome 21: comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin.. 51:1265-1276. 1992
- Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM.. 51:1028-1035. 1992
- 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
- Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.. 50:1211-1217. 1992
- Molecular genetic study of human arginase deficiency.. 50:1281-1290. 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
- A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes.. 49:184-191. 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
- 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
- The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy.. 46:1082-1089. 1990
- Five polymorphic microsatellite VNTRs on the human X chromosome.. 46:776-783. 1990
- Localization of a gene that escapes inactivation to the X chromosome proximal short arm: implications for X inactivation.. 46:273-279. 1990
- Definitive prenatal diagnosis for type III glycogen storage disease. 47:735-739. 1990
- Chromosome-specific alpha satellite DNA from the centromere of human chromosome 16.. 45:862-872. 1989
- Evaluating genetic association among ovarian, breast, and endometrial cancer: evidence for a breast/ovarian cancer relationship.. 45:521-529. 1989
- Noninactivation of a selectable human X-linked gene that complements a murine temperature-sensitive cell cycle defect.. 45:592-598. 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
- The order of loci in the pericentric region of chromosome 17, based on evidence from physical and genetic breakpoints.. 44:68-72. 1989
- Uniparental disomy as a mechanism for human genetic disease.. 42:217-226. 1988
- Molecular analysis of a polymorphic domain of alpha satellite from the human X chromosome.. 41:391-401. 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
- Chromosome-specific organization of human alpha satellite DNA.. 37:524-532. 1985
- Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne muscular dystrophy mutation.. 37:451-462. 1985
- 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
- No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma.. 86:498-499. 2010
- 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
- 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
- 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 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
- Mosaicism for FMR1 gene full mutation and deletion in a fragile X female. 2003
- Optineurin sequence variants do not contribute to high-tension primary open-angle glaucoma. 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 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
- 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 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
- 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
- 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
- Cystatin B mutations in Unverricht-Lundborg Progressive Myoclonus Epilepsy (EPM1) patients: intrafamilial instability and genotype/phenotype correlations. 1997
- Familial aggregation of focal segmental glomerulosclerosis. 1997
- Genomic organization of RET-signaling pathway genes and mutation analysis in Hirschsprung disease patients. 1997
- Multigenic inheritance of Hirschsprung disease. 1997
- MUTATION SCREENING OF THE RET, EDNRB AND ET3 GENES IN HIRSCHSPRUNG PATIENTS 1995
- IDENTITY-BY-DESCENT MAPPING OF HIRSCHSPRUNG DISEASE IN A LARGE MENNONITE KINDRED 1993

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