Keck School Faculty

Impact of Genomic and Clinical Factors on Outcome of Children =18 Months of Age with Stage 3 Neuroblastoma with Unfavorable Histology and without MYCN Amplification: A Children's Oncology Group (COG) Report Clin Cancer Res. 2023 Apr 14; 29(8):1546-1556. . View in PubMed

Focal adhesion is associated with lithium response in bipolar disorder: evidence from a network-based multi-omics analysis Mol Psychiatry. 2023 Mar 29. . View in PubMed

The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism Cell Genom. 2023 Mar 08; 3(3):100261. . View in PubMed

Single-neuron whole genome sequencing identifies increased somatic mutation burden in Alzheimer's disease related genes Neurobiol Aging. 2023 03; 123:222-232. . View in PubMed

Spatial Transcriptomic Analysis of a Diverse Patient Cohort Reveals a Conserved Architecture in Triple-Negative Breast Cancer Cancer Res. 2023 01 04; 83(1):34-48. . View in PubMed

A quantitative characterization of the spatial distribution of brain metastases from breast cancer and respective molecular subtypes J Neurooncol. 2022 Oct; 160(1):241-251. . View in PubMed

Multi-modality machine learning predicting Parkinson's disease NPJ Parkinsons Dis. 2022 Apr 01; 8(1):35. . View in PubMed

Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum Hum Mutat. 2022 11; 43(11):1590-1608. . View in PubMed

Rare variants implicate NMDA receptor signaling and cerebellar gene networks in risk for bipolar disorder Mol Psychiatry. 2022 09; 27(9):3842-3856. . View in PubMed

High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects Am J Med Genet A. 2022 07; 188(7):2082-2095. . View in PubMed

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations Mol Genet Genomic Med. 2022 02; 10(2):e1857. . View in PubMed

Multi-omic molecular profiling guide's efficacious treatment selection in refractory metastatic breast cancer: a prospective phase II clinical trial Mol Oncol. 2022 01; 16(1):104-115. . View in PubMed

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors Biol Psychiatry. 2022 02 01; 91(3):313-327. . View in PubMed

Anatomical and topographical variations in the distribution of brain metastases based on primary cancer origin and molecular subtypes: a systematic review Neurooncol Adv. 2022 Jan-Dec; 4(1):vdab170. . View in PubMed

Correction: Comprehensive molecular profiling of UV-induced metastatic melanoma in Nme1/Nme2-deficient mice reveals novel markers of survival in human patients Oncogene. 2021 Nov; 40(45):6394. . View in PubMed

RNA sequencing of whole blood reveals early alterations in immune cells and gene expression in Parkinson's disease Nat Aging. 2021 Aug; 1(8):734-747. . View in PubMed

Multiethnic PDX models predict a possible immune signature associated with TNBC of African ancestry Breast Cancer Res Treat. 2021 Apr; 186(2):391-401. . View in PubMed

Deep sequencing of sncRNAs reveals hallmarks and regulatory modules of the transcriptome during Parkinson's disease progression Nat Aging. 2021 Mar; 1(3):309-322. . View in PubMed

Characterisation of age and polarity at onset in bipolar disorder Br J Psychiatry. 2021 12; 219(6):659-669. . View in PubMed

Absence of coding somatic single nucleotide variants within well-known candidate genes in late-onset sporadic Alzheimer's Disease based on the analysis of multi-omics data Neurobiol Aging. 2021 12; 108:207-209. . View in PubMed

Comprehensive molecular profiling of UV-induced metastatic melanoma in Nme1/Nme2-deficient mice reveals novel markers of survival in human patients Oncogene. 2021 11; 40(45):6329-6342. . View in PubMed

Identifying treatment options for BRAFV600 wild-type metastatic melanoma: A SU2C/MRA genomics-enabled clinical trial PLoS One. 2021; 16(4):e0248097. . View in PubMed

Applicability of spatial transcriptional profiling to cancer research Mol Cell. 2021 04 15; 81(8):1631-1639. . View in PubMed

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1 Neurol Genet. 2020 Aug; 6(4):e468. . View in PubMed

Norms and Attitudes about Being an Active Bystander: Support for Telling Adults about Seeing Knives or Guns at School among Greater London Youth J Youth Adolesc. 2020 Apr; 49(4):849-868. . View in PubMed

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia Hum Mutat. 2020 02; 41(2):412-419. . View in PubMed

miEAA 20: integrating multi-species microRNA enrichment analysis and workflow management systems. Nucleic Acids Res. 2020 07 02; 48(W1):W521-W528. . View in PubMed

Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice Transl Psychiatry. 2020 11 24; 10(1):407. . View in PubMed

Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression Neurooncol Adv. 2020 Jan-Dec; 2(1):vdaa078. . View in PubMed

Single-cell sequencing of genomic DNA resolves sub-clonal heterogeneity in a melanoma cell line Commun Biol. 2020 06 25; 3(1):318. . View in PubMed

Activity of Various Essential Oils Against Clinical Dermatophytes of Microsporum and Trichophyton Front Cell Infect Microbiol. 2020; 10:545913. . View in PubMed

Small RNA Deep Sequencing Identifies a Unique miRNA Signature Released in Serum Exosomes in a Mouse Model of Sjögren's Syndrome Front Immunol. 2020; 11:1475. . View in PubMed

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD) Hum Genet. 2019 Dec; 138(11-12):1409-1417. . View in PubMed

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing Nat Genet. 2019 Sep; 51(9):1423-1424. . View in PubMed

Adolescent Tobacco Use and Misperceptions of Social Norms Across Schools in the United States J Stud Alcohol Drugs. 2019 11; 80(6):659-668. . View in PubMed

E6201, an intravenous MEK1 inhibitor, achieves an exceptional response in BRAF V600E-mutated metastatic malignant melanoma with brain metastases Invest New Drugs. 2019 08; 37(4):636-645. . View in PubMed

Genome-wide association study identifies 30 loci associated with bipolar disorder Nat Genet. 2019 05; 51(5):793-803. . View in PubMed

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing Nat Genet. 2019 03; 51(3):414-430. . View in PubMed

Chronotype and cellular circadian rhythms predict the clinical response to lithium maintenance treatment in patients with bipolar disorder Neuropsychopharmacology. 2019 02; 44(3):620-628. . View in PubMed

Efficient region-based test strategy uncovers genetic risk factors for functional outcome in bipolar disorder Eur Neuropsychopharmacol. 2019 01; 29(1):156-170. . View in PubMed

A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome Neuronal Signal. 2018 Sep; 2(3):NS20180141. . View in PubMed

Author Correction: A population-specific reference panel empowers genetic studies of Anabaptist populations Sci Rep. 2018 Apr 25; 8(1):6771. . View in PubMed

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype Am J Med Genet A. 2018 07; 176(7):1549-1558. . View in PubMed

Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results Semin Pediatr Neurol. 2018 07; 26:28-32. . View in PubMed

Accuracy of Estimated Blood Alcohol Concentration Norms From College Student Drinking Survey Data: Verification Using Matched Late-Night Breath Measurements J Stud Alcohol Drugs. 2018 05; 79(3):455-464. . View in PubMed

Prospective Feasibility Trial for Genomics-Informed Treatment in Recurrent and Progressive Glioblastoma Clin Cancer Res. 2018 01 15; 24(2):295-305. . View in PubMed

Misperceived norms and personal sugar-sweetened beverage consumption and fruit and vegetable intake among students in the United States Appetite. 2018 10 01; 129:82-93. . View in PubMed

Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum Oncotarget. 2017 Nov 21; 8(59):99237-99244. . View in PubMed

Comprehensive molecular profiling of 718 Multiple Myelomas reveals significant differences in mutation frequencies between African and European descent cases PLoS Genet. 2017 Nov; 13(11):e1007087. . View in PubMed

Enrichment of PI3K-AKT-mTOR Pathway Activation in Hepatic Metastases from Breast Cancer Clin Cancer Res. 2017 Aug 15; 23(16):4919-4928. . View in PubMed

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus Am J Med Genet A. 2017 Mar; 173(3):611-617. . View in PubMed

A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits Neurol Genet. 2017 Feb; 3(1):e129. . View in PubMed

Exploring genome-wide DNA methylation patterns in Aicardi syndrome Epigenomics. 2017 11; 9(11):1373-1386. . View in PubMed

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease Nat Genet. 2017 09; 49(9):1373-1384. . View in PubMed

Comprehensive Genomic Analysis of Metastatic Mucinous Urethral Adenocarcinoma Guides Precision Oncology Treatment: Targetable EGFR Amplification Leading to Successful Treatment With Erlotinib Clin Genitourin Cancer. 2017 08; 15(4):e727-e734. . View in PubMed

Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma Genome Res. 2017 04; 27(4):524-532. . View in PubMed

Case report: whole exome sequencing of primary cardiac angiosarcoma highlights potential for targeted therapies BMC Cancer. 2017 01 05; 17(1):17. . View in PubMed

A population-specific reference panel empowers genetic studies of Anabaptist populations Sci Rep. 2017 07 20; 7(1):6079. . View in PubMed

A method to reduce ancestry related germline false positives in tumor only somatic variant calling BMC Med Genomics. 2017 10 19; 10(1):61. . View in PubMed

A prospective pilot study of genome-wide exome and transcriptome profiling in patients with small cell lung cancer progressing after first-line therapy PLoS One. 2017; 12(6):e0179170. . View in PubMed

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability F1000Res. 2017; 6:553. . View in PubMed

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a000851. . View in PubMed

An International Standard for holotranscobalamin (holoTC): international collaborative study to assign a holoTC value to the International Standard for vitamin B12 and serum folate Clin Chem Lab Med. 2016 Sep 01; 54(9):1467-72. . View in PubMed

Efficacy of Topical Treatments for Chrysaora chinensis Species: A Human Model in Comparison with an In Vitro Model Wilderness Environ Med. 2016 Mar; 27(1):25-38. . View in PubMed

Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia Mov Disord. 2016 11; 31(11):1752-1753. . View in PubMed

Molecular Genetic Profiling of Adolescent Glassy Cell Carcinoma of the Cervix Reveals Targetable EGFR Amplification with Potential Therapeutic Implications J Adolesc Young Adult Oncol. 2016 09; 5(3):297-302. . View in PubMed

Clinical Implementation of Integrated Genomic Profiling in Patients with Advanced Cancers Sci Rep. 2016 12 23; 6(1):25. . View in PubMed

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder Hum Mol Genet. 2016 08 01; 25(15):3383-3394. . View in PubMed

Age-Related Macular Degeneration-Associated Genes in Alzheimer Disease Am J Geriatr Psychiatry. 2015 Dec; 23(12):1290-1296. . View in PubMed

Amyloid pathway-based candidate gene analysis of [(11)C]PiB-PET in the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort Brain Imaging Behav. 2012 Mar; 6(1):1-15. . View in PubMed

Germline mutations in HOXB13 and prostate-cancer risk N Engl J Med. 2012 Jan 12; 366(2):141-9. . View in PubMed

Deep clonal profiling of formalin fixed paraffin embedded clinical samples PLoS One. 2012; 7(11):e50586. . View in PubMed

Cancer of the ampulla of Vater: analysis of the whole genome sequence exposes a potential therapeutic vulnerability Genome Med. 2012; 4(7):56. . View in PubMed

Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma PLoS One. 2012; 7(5):e37029. . View in PubMed

Genome-wide characterization of pancreatic adenocarcinoma patients using next generation sequencing PLoS One. 2012; 7(10):e43192. . View in PubMed

Induction of pluripotent stem cells from autopsy donor-derived somatic cells Neurosci Lett. 2011 Sep 20; 502(3):219-24. . View in PubMed

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4 Nat Genet. 2011 Sep 18; 43(10):977-83. . View in PubMed

The functional spectrum of low-frequency coding variation Genome Biol. 2011 Sep 14; 12(9):R84. . View in PubMed

Demographic history and rare allele sharing among human populations Proc Natl Acad Sci U S A. 2011 Jul 19; 108(29):11983-8. . View in PubMed

Variation in genome-wide mutation rates within and between human families Nat Genet. 2011 Jun 12; 43(7):712-4. . View in PubMed

Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes PLoS Genet. 2011 Jun; 7(6):e1002134. . View in PubMed

Autism and increased paternal age related changes in global levels of gene expression regulation PLoS One. 2011 Feb 17; 6(2):e16715. . View in PubMed

Mapping copy number variation by population-scale genome sequencing Nature. 2011 Feb 03; 470(7332):59-65. . View in PubMed

Introduction to genetic epidemiology Optometry. 2011 Feb; 82(2):83-91. . View in PubMed

Accuracy of CNV Detection from GWAS Data PLoS One. 2011 Jan 13; 6(1):e14511. . View in PubMed

Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort Neurology. 2011 Jan 04; 76(1):69-79. . View in PubMed

Exonic DNA sequencing of ERBB4 in bipolar disorder PLoS One. 2011; 6(5):e20242. . View in PubMed

Bar-coded, multiplexed sequencing of targeted DNA regions using the Illumina Genome Analyzer Methods Mol Biol. 2011; 700:89-104. . View in PubMed

Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study Int J Alzheimers Dis. 2011; 2011:729478. . View in PubMed

Copy number and targeted mutational analysis reveals novel somatic events in metastatic prostate tumors Genome Res. 2011 Jan; 21(1):47-55. . View in PubMed

Microarray-based genome-wide association studies using pooled DNA Methods Mol Biol. 2011; 700:49-60. . View in PubMed

Assessing and managing risk when sharing aggregate genetic variant data Nat Rev Genet. 2011 09 16; 12(10):730-6. . View in PubMed

Decreased serum arylesterase activity in autism spectrum disorders Psychiatry Res. 2010 Dec 30; 180(2-3):105-13. . View in PubMed

Misperceptions of peer norms as a risk factor for sugar-sweetened beverage consumption among secondary school students J Am Diet Assoc. 2010 Dec; 110(12):1916-21. . View in PubMed

Voxelwise genome-wide association study (vGWAS) Neuroimage. 2010 Nov 15; 53(3):1160-74. . View in PubMed

Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort Neuroimage. 2010 Nov 15; 53(3):1051-63. . View in PubMed

Diversity of human copy number variation and multicopy genes Science. 2010 Oct 29; 330(6004):641-6. . View in PubMed

A map of human genome variation from population-scale sequencing Nature. 2010 Oct 28; 467(7319):1061-73. . View in PubMed

Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals Hum Mol Genet. 2010 Aug 15; 19(16):3295-301. . View in PubMed

Whole-genome association mapping of gene expression in the human prefrontal cortex Mol Psychiatry. 2010 Aug; 15(8):779-84. . View in PubMed

Evidence for an association between KIBRA and late-onset Alzheimer's disease Neurobiol Aging. 2010 Jun; 31(6):901-9. . View in PubMed

Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease Neuroimage. 2010 Jun; 51(2):542-54. . View in PubMed

Executive functioning in Alzheimer's disease and vascular dementia Int J Geriatr Psychiatry. 2010 Jun; 25(6):562-8. . View in PubMed

A commonly carried allele of the obesity-related FTO gene is associated with reduced brain volume in the healthy elderly Proc Natl Acad Sci U S A. 2010 May 04; 107(18):8404-9. . View in PubMed

Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans Alzheimers Dement. 2010 May; 6(3):265-73. . View in PubMed

Genetic control of individual differences in gene-specific methylation in human brain Am J Hum Genet. 2010 Mar 12; 86(3):411-9. . View in PubMed

Cerebellar telomere length and psychiatric disorders Behav Genet. 2010 Mar; 40(2):250-4. . View in PubMed

Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis Int J Mol Epidemiol Genet. 2010; 1(1):19-30. . View in PubMed

Genome-wide SNP genotyping study using pooled DNA to identify candidate markers mediating susceptibility to end-stage renal disease attributed to Type 1 diabetes Diabet Med. 2009 Nov; 26(11):1090-8. . View in PubMed

Genetic variants at 6p2133 are associated with susceptibility to follicular lymphoma. Nat Genet. 2009 Aug; 41(8):873-5. . View in PubMed

Genome-wide scan of 500,000 single-nucleotide polymorphisms among responders and nonresponders to interferon beta therapy in multiple sclerosis Arch Neurol. 2009 Aug; 66(8):972-8. . View in PubMed

Singleton deletions throughout the genome increase risk of bipolar disorder Mol Psychiatry. 2009 Apr; 14(4):376-80. . View in PubMed

Genetic control of human brain transcript expression in Alzheimer disease Am J Hum Genet. 2009 Apr; 84(4):445-58. . View in PubMed

Statistical comparison framework and visualization scheme for ranking-based algorithms in high-throughput genome-wide studies J Comput Biol. 2009 Apr; 16(4):565-77. . View in PubMed

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis Am J Hum Genet. 2009 Mar; 84(3):328-38. . View in PubMed

GRM7 variants confer susceptibility to age-related hearing impairment Hum Mol Genet. 2009 Feb 15; 18(4):785-96. . View in PubMed

A novel reciprocal and biphasic relationship between membrane cholesterol and beta-secretase activity in SH-SY5Y cells and in human platelets J Neurochem. 2009 Jan; 108(2):341-9. . View in PubMed

Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies J Neural Transm (Vienna). 2008 Nov; 115(11):1573-85. . View in PubMed

Identification of genetic variants using bar-coded multiplexed sequencing Nat Methods. 2008 Oct; 5(10):887-93. . View in PubMed

Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies Bioinformatics. 2008 Sep 01; 24(17):1896-902. . View in PubMed

Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays PLoS Genet. 2008 Aug 29; 4(8):e1000167. . View in PubMed

Common sequence variants on 20q1122 confer melanoma susceptibility. Nat Genet. 2008 Jul; 40(7):838-40. . View in PubMed

Genome-wide linkage analysis of ADHD using high-density SNP arrays: novel loci at 5q131 and 14q12. Mol Psychiatry. 2008 May; 13(5):522-30. . View in PubMed

Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus Am J Hum Genet. 2008 Feb; 82(2):366-74. . View in PubMed

Sorl1 as an Alzheimer's disease predisposition gene? Neurodegener Dis. 2008; 5(2):60-4.. View in PubMed

Identification of a novel risk locus for multiple sclerosis at 13q313 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms. PLoS One. 2008; 3(10):e3490. . View in PubMed

A survey of genetic human cortical gene expression Nat Genet. 2007 Dec; 39(12):1494-9. . View in PubMed

The nuts and bolts of gene array technology and its application to drug abuse research Drug Alcohol Depend. 2007 Nov 02; 91(1):102-6. . View in PubMed

Whole-genome analysis of sporadic amyotrophic lateral sclerosis N Engl J Med. 2007 Aug 23; 357(8):775-88. . View in PubMed

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5 Brain. 2007 Jul; 130(Pt 7):1929-41. . View in PubMed

Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance Hum Mol Genet. 2007 Jun 15; 16(12):1469-77. . View in PubMed

GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers Neuron. 2007 Jun 07; 54(5):713-20. . View in PubMed

Chromosomal abnormality at 6p251-25. 3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsy. Epilepsy Res. 2007 Jun; 75(1):70-3. . View in PubMed

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms Am J Hum Genet. 2007 Apr; 80(4):769-78. . View in PubMed

Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study Diabetes. 2007 Apr; 56(4):975-83. . View in PubMed

A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease J Clin Psychiatry. 2007 Apr; 68(4):613-8. . View in PubMed

SNiPer-HD: improved genotype calling accuracy by an expectation-maximization algorithm for high-density SNP arrays Bioinformatics. 2007 Jan 01; 23(1):57-63. . View in PubMed

SNP-based chromosomal copy number ascertainment following multiple displacement whole-genome amplification Biotechniques. 2007 Jan; 42(1):77-83. . View in PubMed

Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies Am J Hum Genet. 2007 Jan; 80(1):126-39. . View in PubMed

Common Kibra alleles are associated with human memory performance Science. 2006 Oct 20; 314(5798):475-8. . View in PubMed

High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p211-pter and 2q33. 1-q35. Birth Defects Res A Clin Mol Teratol. 2006 Jun; 76(6):499-505. . View in PubMed

SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data BMC Genomics. 2005 Oct 31; 6:149. . View in PubMed

Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population Am J Med Genet A. 2005 Oct 15; 138A(3):262-7. . View in PubMed

Identification of disease causing loci using an array-based genotyping approach on pooled DNA BMC Genomics. 2005 Sep 30; 6:138. . View in PubMed

Applications of whole-genome high-density SNP genotyping Expert Rev Mol Diagn. 2005 Mar; 5(2):159-70. . View in PubMed

The genetics of tethered cord syndrome Am J Med Genet A. 2005 Feb 01; 132A(4):450-3. . View in PubMed

The Autism Genome Project: goals and strategies Am J Pharmacogenomics. 2005; 5(4):233-46. . View in PubMed

Structural insights into how the MIDAS ion stabilizes integrin binding to an RGD peptide under force Structure. 2004 Nov; 12(11):2049-58. . View in PubMed

Behavioural and psychological syndromes in Alzheimer's disease Int J Geriatr Psychiatry. 2004 Nov; 19(11):1035-9. . View in PubMed

Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function Proc Natl Acad Sci U S A. 2004 Aug 10; 101(32):11689-94. . View in PubMed

Neurobiology and genetics of behavioural syndromes of Alzheimer's disease Curr Alzheimer Res. 2004 May; 1(2):135-42. . View in PubMed

Tuning the mechanical stability of fibronectin type III modules through sequence variations Structure. 2004 Jan; 12(1):21-30. . View in PubMed

Structure and functional significance of mechanically unfolded fibronectin type III1 intermediates Proc Natl Acad Sci U S A. 2003 Dec 09; 100(25):14784-9. . View in PubMed

A retrospective study of the behavioural and psychological symptoms of mid and late phase Alzheimer's disease Int J Geriatr Psychiatry. 2003 Nov; 18(11):1037-42. . View in PubMed

Identifying unfolding intermediates of FN-III(10) by steered molecular dynamics J Mol Biol. 2002 Nov 08; 323(5):939-50. . View in PubMed

A structural model for force regulated integrin binding to fibronectin's RGD-synergy site Matrix Biol. 2002 Mar; 21(2):139-47. . View in PubMed

Structural insights into the mechanical regulation of molecular recognition sites Trends Biotechnol. 2001 Oct; 19(10):416-23. . View in PubMed

Comparison of the early stages of forced unfolding for fibronectin type III modules Proc Natl Acad Sci U S A. 2001 May 08; 98(10):5590-5. . View in PubMed

Phase I trial of a recombinant vaccinia virus encoding carcinoembryonic antigen in metastatic adenocarcinoma: comparison of intradermal versus subcutaneous administration Clin Cancer Res. 1999 Sep; 5(9):2330-7. . View in PubMed

Modeling and mutagenesis of the human alpha 1a-adrenoceptor: orientation and function of transmembrane helix V sidechains Recept Channels. 1996; 4(3):165-77. . View in PubMed

Fluorescence-based enzymatic assay by capillary electrophoresis laser-induced fluorescence detection for the determination of a few beta-galactosidase molecules Anal Biochem. 1995 Mar 20; 226(1):147-53. . View in PubMed

Adolescents' cognitions and attributions for academic cheating: a cross-national study J Psychol. 1993 Nov; 127(6):585-602. . View in PubMed

Plasmid cDNA-directed protein synthesis in a coupled eukaryotic in vitro transcription-translation system Nucleic Acids Res. 1992 Oct 11; 20(19):4987-95. . View in PubMed

Safety and efficacy of sonicated albumin microspheres in perfusion and vein graft patency assessments Clin Cardiol. 1991 Nov; 14(11 Suppl 5):V29-32. . View in PubMed

Human kidney preservation by intracellular electrolyte flush followed by cold storage for over 24 hours Transplantation. 1981 Dec; 32(6):485-7. . View in PubMed

Structural mapping of rabbit muscle phosphofructokinaseDistance between the adenosine cyclic 3',5'-phosphate binding site and a reactive sulfhydryl group. Biochemistry. 1980 Jan 22; 19(2):330-4. . View in PubMed