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• 18. Axonopathy in a mouse model of Krabbe disease  Academic Article
• ???????? / Genetika / Russian Journal of Genetics  Journal
• A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. 
• A common X-linked inborn error of carnitine biosynthesis may be a risk factor for non-dysmorphic autism  Academic Article
• A genome-wide linkage study in autism.  Academic Article
• A genome-wide scan for common alleles affecting risk for autism.  Academic Article
• A genome-wide study reveals copy number variants exclusive to childhood obesity cases.  Academic Article
• A genomewide screen for autism susceptibility loci.  Academic Article
• A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration. 
• A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.  Academic Article
• A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.  Academic Article
• A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice.  Academic Article
• A restriction enzyme cleavage map of Tn5 and location of a region encoding neomycin resistance.  Academic Article
• A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1. 
• ADAR RNA editing in human disease; more to it than meets the I.  Academic Article
• Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation. 
• Allelic IGF2R repression does not correlate with expression of antisense RNA in human extraembryonic tissues. 
• Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes.  Academic Article
• Altered palmitoylation and neuropathological deficits in mice lacking HIP14.  Academic Article
• American Journal of Human Genetics  Journal
• American Journal of Medical Genetics Part C: Seminars in Medical Genetics  Journal
• An interspecific backcross linkage map of the proximal half of mouse chromosome 14.  Academic Article
• Analysis of YFP(J16)-R6/2 reporter mice and postmortem brains reveals early pathology and increased vulnerability of callosal axons in Huntington's disease.  Academic Article
• Annals of Human Genetics 
• Annual Review of Genomics and Human Genetics  Journal
• BAC library for the amphipod crustacean, Parhyale hawaiensis.  Academic Article
• BMC Genetics  Journal
• BMC Medical Genetics  Journal
• BMC Medical Genomics  Journal
• Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. 
• Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy. 
• Biochemical and genetic analysis of ANK in arthritis and bone disease.  Academic Article
• Bisdiamine inhibits extracellular matrix formation and cell proliferation of atrioventricular mesenchyme from developing chick heart valves.  Academic Article
• CIRCULAR DNAS OF MOBILE DISPERSED GENES IN DROSOPHILA-MELANOGASTER CELL-CULTURE  Academic Article
• CNV  Academic Article
• Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.  Academic Article
• Characterization of an RNA "binding site" for a specific ribosomal protein of Escherichia coli.  Academic Article
• Characterization ofSTUB1in zebrafish - development of a new knock-out model to study neurodegeneration 
• Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase.  Academic Article
• Chromosomal localization of seven members of the murine TGF-beta superfamily suggests close linkage to several morphogenetic mutant loci.  Academic Article
• Chromosomal localization, embryonic expression, and imprinting tests for Bmp7 on distal mouse chromosome 2.  Academic Article
• Chromosomal location of murine and human IL-1 receptor genes.  Academic Article
• Clinical Genetics  Journal
• Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.  Academic Article
• Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data. 
• Comparative Biochemistry and Physiology - Part D: Genomics and Proteomics  Journal
• Comparative analysis of genome-wide association studies targeting various complex human diseases and phenotypic traits. 
• Confirmatory evidence of linkage for autism to 7q based on combined analysis of three independent data sets.  Academic Article
• Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.  Academic Article
• Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.  Academic Article
• Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene. 
• Cytogenetics and cell genetics Cytogenetic and genome research  Journal
• De novo SCN2A splice site mutation in a boy with Autism spectrum disorder.  Academic Article
• Defining cis-acting regulatory elements by transgenic BAC scanning and comparative sequencing: examples from the GDF/BMP gene family.  Conference Paper
• Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer  Academic Article
• Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer.  Academic Article
• Dkk3 is a component of the genetic circuitry regulating aldosterone biosynthesis in the adrenal cortex. 
• Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. 
• Efficient suppression of the requirement for N function of bacteriophage lambda by a Rho-defective E.coli suA mutant.  Academic Article
• Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 9.  Academic Article
• Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. 
• Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis.  Academic Article
• Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood. 
• European Journal of Human Genetics  Journal
• Evidence for ADAR-induced hypermutation of the Drosophila sigma virus (Rhabdoviridae).  Academic Article
• Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families.  Academic Article
• Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.  Academic Article
• Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity.  Academic Article
• Evolution of Courtship Songs in Xenopus : Vocal Pattern Generation and Sound Production.  Academic Article
• Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.  Academic Article
• Exploring the oral microbiota of children at various developmental stages of their dentition in the relation to their oral health. 
• Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia.  Academic Article
• Expression of three proneural basic Helix-Loop-Helix transcription factors in extravillus trophoblasts suggests role in trophoblast differentiation and invasion. 
• Expression profiling identifies novel Hh/Gli-regulated genes in developing zebrafish embryos.  Academic Article
• FINE-STRUCTURE OF LONG TERMINAL REPEATS AND THE STEPS OF REVERSE TRANSCRIPTION OF DROSOPHILA MOBILE DISPERSED GENETIC ELEMENTS  Academic Article
• FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications.  Academic Article
• Family-based association tests for sequence data, and comparisons with population-based association tests.  Academic Article
• Finding disease variants in Mendelian disorders by using sequence data: methods and applications.  Academic Article
• Fundulus as the premier teleost model in environmental biology: opportunities for new insights using genomics.  Academic Article
• GREB1L and ROBO1 -Two novel genes associated with renal agenesis 
• Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.  Academic Article
• Genetic and epigenetic changes involving (retro)transposons in animal hybrids and polyploids.  Academic Article
• Genetics and genomics of autism spectrum disorder: embracing complexity.  Academic Article
• GenoScan: A Genome-Wide Scan Statistic Framework for Whole-Genome Sequence Data Analysis with Applications to Data from the Simons Simplex Collection  Conference Paper
• Genomic analyses in African populations identify novel risk loci for cleft palate. 
• Genomic organization of the family of CNR cadherin genes in mice and humans. 
• Genomics  Journal
• Hereditary Spastic Paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.  Academic Article
• Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.  Academic Article
• Human Genetics  Journal
• Human Molecular Genetics  Journal
• Human Mutation  Journal
• Human heredity  Journal
• Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.  Academic Article
• Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to Gene VPS13B, Involved in Cohen Syndrome and Autism  Academic Article
• Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci. 
• Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.  Academic Article
• Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.  Academic Article
• Individual common variants exert weak effects on the risk for autism spectrum disorders.  Academic Article
• Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. 
• Inosine induced mutations.  Academic Article
• Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.  Academic Article
• Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate. 
• Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.  Academic Article
• Journal of medical genetics  Journal
• Kinase inhibitors arrest neurodegeneration in cell and C. elegans models of LRRK2 toxicity. 
• Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.  Academic Article
• Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS. 
• Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression.  Academic Article
• Large-scale candidate gene screening and association analysis in schizophrenia.  Academic Article
• Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test.  Academic Article
• Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. 
• MOLECULAR ANALYSIS OF RETROTRANSPOSON MDG4 CLONED FROM 2 DROSOPHILA-MELANOGASTER STRAINS DIFFERING IN GENETIC INSTABILITY  Academic Article
• Mammalian Genome  Journal
• Meiotic recombination and spermatogenic impairment in Mus musculus domesticus carrying multiple simple Robertsonian translocations. 
• Mobile genetic elements and sexual reproduction.  Academic Article
• Molecular & general genetics : MGG Molecular Genetics and Genomics  Journal
• Molecular Genetics and Metabolism  Journal
• Molecular Polymorphism and Divergence of Duplicated Genes in Tetraploid African Clawed Frogs (Xenopus).  Academic Article
• Molecular analysis of the gypsy (mdg4) retrotransposon in two Drosophila melanogaster strains differing by genetic instability.  Academic Article
• Molecular cloning and chromosomal mapping of the mouse cyclin-dependent kinase 5 gene.  Academic Article
• Molecular cloning and chromosomal mapping of the mouse gene encoding cyclin-dependent kinase 5 regulatory subunit p35.  Academic Article
• Molecular diversity of the SCG10/stathmin gene family in the mouse.  Academic Article
• Molecular physiology of copepods - from biomarkers to transcriptomes and back again.  Academic Article
• Mouse chromosome 9.  Academic Article
• Mouse chromosome 9.  Academic Article
• Mouse chromosome 9.  Academic Article
• Mouse model of human RPE65 P25L hypomorph resembles wild type under normal light rearing but is fully resistant to acute light damage. 
• Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.  Academic Article
• Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.  Academic Article
• Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation.  Academic Article
• Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.  Academic Article
• Mutations in ANKH cause chondrocalcinosis.  Academic Article
• Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. 
• Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability.  Academic Article
• New candidate genes in autism spectrum disorder 
• Not All Autism Genes Are Created Equal: A Response to Myers et al. 
• OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.  Academic Article
• Overexpression of the Cdk5 inhibitory peptide in motor neurons rescue of amyotrophic lateral sclerosis phenotype in a mouse model.  Academic Article
• POSITIONAL CLONING OF THE SNELLS WALTZER GENE - A MOUSE MODEL FOR HUMAN AUTOSOMAL RECESSIVE DEAFNESS  Conference Paper
• Penelope-like elements--a new class of retroelements: distribution, function and possible evolutionary significance.  Academic Article
• Performance of DNA pooling across twelve large-scale association studies. 
• Polyploidy in Amphibia.  Academic Article
• Positive and negative cis-regulatory elements in the bithoraxoid region of the Drosophila Ultrabithorax gene. 
• Preface.  Academic Article
• Promoting ectopic pancreatic fates: pancreas development and future diabetes therapies.  Academic Article
• Proteomic analysis of anoxia tolerance in the developing zebrafish embryo.  Academic Article
• REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival. 
• Regulation of phagolysosomal activity by miR-204 critically influences structure and function of retinal pigment epithelium/retina. 
• Repressor and int synthesis of bacteriophage lambda in the E. coli host mutant ER437.  Academic Article
• Response to Ott and Hoh.  Academic Article
• Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets.  Academic Article
• Screening of candidate genes related to mylination for mutations associated with schizophrenia.  Academic Article
• Sequence kernel association tests for the combined effect of rare and common variants.  Academic Article
• Single-cell quantitative RT-PCR analysis of Cpt1b and Cpt2 gene expression in mouse antral oocytes and in preimplantation embryos. 
• Structure, expression, and chromosomal localization of the mouse Atox1 gene.  Academic Article
• THE STRUCTURE OF LONG TERMINAL REPEATS OF TRANSCRIPTIONALLY ACTIVE AND INACTIVE COPIES OF DROSOPHILA MOBILE DISPERSED GENETIC ELEMENTS-MDG3  Academic Article
• TRANSCRIPTION OF DROSOPHILA MOBILE ELEMENT MDG4 IN HEAT SHOCKED CELLS  Academic Article
• Teratology Birth Defects Research Part A: Clinical and Molecular Teratology  Journal
• The Bmp8 gene is expressed in developing skeletal tissue and maps near the Achondroplasia locus on mouse chromosome 4.  Academic Article
• The Microbiome and Human Biology.  Academic Article
• The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.  Academic Article
• The construction of lambda transducing phages containing deletions defining regulatory elements of the lac and trp operons in E. coli.  Academic Article
• The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly. 
• The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts. 
• The human-specific CASP4 gene product contributes to Alzheimer-related synaptic and behavioural deficits.  Academic Article
• The requirement of nonsense suppression for the development of several phages.  Academic Article
• The voltage-gated potassium channel Kv1.3 regulates energy homeostasis and body weight.  Academic Article
• Third Report on Chicken Genes and Chromosomes 2015.  Academic Article
• Transcriptome-wide analysis of the response of the thecosome pteropod Clio pyramidata to short-term CO2 exposure.  Academic Article
• Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity 
• Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.  Academic Article
• Unraveling the Tangled Skein: The Evolution of Transcriptional Regulatory Networks in Development.  Academic Article
• Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.  Academic Article
• Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.  Academic Article
• Yeast LEU5 is a PET-like gene that is not essential for leucine biosynthesis. 
• ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.  Academic Article