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List of works by David Schlessinger

52 Genetic Loci Influencing Myocardial Mass

scientific article

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta(GP1BB) that impacts thrombocytopenia

scientific article published on 20 November 2020

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

scientific article

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

scientific article published on 23 November 2016

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

AGEMAP: a gene expression database for aging in mice

scientific article

Age-related changes of the retinal microvasculature

Aging of oocyte, ovary, and human reproduction

scientific article

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

scientific article

Analysis of the temporal requirement for eda in hair and sweat gland development

scientific article published on 16 October 2008

Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice

scientific journal article

Are personality traits associated with white-coat and masked hypertension?

scientific article

Arterial stiffness and influences of the metabolic syndrome: a cross-countries study

scientific article

Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

scientific article published on 14 July 2015

Associations of large artery structure and function with adiposity: effects of age, gender, and hypertension. The SardiNIA Study

scientific article published on 14 December 2011

BDNF Val66Met is associated with introversion and interacts with 5-HTTLPR to influence neuroticism

scientific article

Bex3 associates with replicating mitochondria and is involved in possible growth control of F9 teratocarcinoma cells

scientific article

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

COL4A1 is associated with arterial stiffness by genome-wide association scan

scientific article

Candidate EDA targets revealed by expression profiling of primary keratinocytes from Tabby mutant mice

scientific article published on 24 September 2008

Cholesterol, triglycerides, and the Five-Factor Model of personality.

scientific article

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

Common variants at 30 loci contribute to polygenic dyslipidemia

scientific article

Common variants at ten loci modulate the QT interval duration in the QTSCD Study

scientific article

Common variants in the GDF5-UQCC region are associated with variation in human height

scientific article

Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia

scientific article

Common variants near MC4R are associated with fat mass, weight and risk of obesity

scientific article

Constitutively active Foxo3 in oocytes preserves ovarian reserve in mice.

scientific article

Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools

scientific article published on 29 September 2015

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

scientific article published on November 2016

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

scientific article published on 17 December 2015

DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

scholarly article

Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article

Determination and stability of gonadal sex

scientific article

Determination and stability of sex.

scientific article

Dkk4 and Eda regulate distinctive developmental mechanisms for subtypes of mouse hair

scientific article

Dynamics of the ovarian reserve and impact of genetic and epidemiological factors on age of menopause

scientific article

EDA signaling and skin appendage development

scientific article

Eccrine sweat gland development and sweat secretion

scientific article

Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation

scholarly article

Effects of aging and calorie restriction on the global gene expression profiles of mouse testis and ovary

scientific article

Emergence of undifferentiated colonies from mouse embryonic stem cells undergoing differentiation by retinoic acid treatment

scientific article published on 29 April 2016

Erratum: Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

article

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article published in November 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

Erratum: Whole-genome sequence-based analysis of thyroid function

scientific article published on 20 May 2015

ExAtlas: An interactive online tool for meta-analysis of gene expression data

scientific article

FOXL2 and BMP2 act cooperatively to regulate follistatin gene expression during ovarian development

scientific article published on 17 November 2010

FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences

scientific article

FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice

scientific article published on 2 July 2015

FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice

scientific article published on 22 January 2014

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

Facets of personality linked to underweight and overweight

scientific article published on 04 May 2009

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability

scientific article

Forkhead transcription factor FoxA1 regulates sweat secretion through Bestrophin 2 anion channel and Na-K-Cl cotransporter 1

scientific article published on 5 January 2012

Foxc1 Ablated Mice Are Anhidrotic and Recapitulate Features of Human Miliaria Sweat Retention Disorder

scientific article published in September 2016

Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development

scientific journal article

Foxl2 functions in sex determination and histogenesis throughout mouse ovary development

scientific article published on 18 June 2009

Foxl2 is required for commitment to ovary differentiation

scientific journal article

Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development ⬇️

scientific article published on February 25, 2013

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

scientific article published on 21 June 2013

Generation and gene expression profiling of 48 transcription-factor-inducible mouse embryonic stem cell lines

scientific article published on 6 May 2016

Genes and translocations involved in POF.

scientific article

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Genetic dysregulation of gene expression and splicing during a ten-year period of human aging

article

Genetic evidence of assortative mating in humans

article

Genetic loci influencing kidney function and chronic kidney disease

scientific article

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

scientific article published on 18 April 2016

Genetic variants influencing circulating lipid levels and risk of coronary artery disease

scientific article published on 23 September 2010

Genetic-Driven Druggable Target Identification and Validation

article published in 2018

Genetics of serum BDNF: meta-analysis of the Val66Met and genome-wide association study

scientific article

Genetics of the ovarian reserve

scientific article

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

scientific article

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

scientific article

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course

scientific article published on 12 May 2013

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

scientific article

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009

Genome-wide association scan of trait depression

scientific journal article

Genome-wide association study identifies 74 loci associated with educational attainment

scientific article published on 11 May 2016

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

scientific article published on 16 October 2011

Genome-wide association study of PR interval

scientific article

Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

scientific article published on 10 May 2015

Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations

scientific article

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia

scientific article

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

scientific article

Germ cell formation from embryonic stem cells and the use of somatic cell nuclei in oocytes

scientific article

Height-reducing variants and selection for short stature in Sardinia

scientific article

Heritability of cardiovascular and personality traits in 6,148 Sardinians

scientific article published on 10 July 2006

How to build a kangaroo the way a kangaroo builds itself

scientific article published in October 2009

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

IRAK-M is involved in the pathogenesis of early-onset persistent asthma

scientific article

Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels

scientific article

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

scientific article

Identification of potassium and chloride channels in eccrine sweat glands

scientific article

Identification of ten loci associated with height highlights new biological pathways in human growth

scientific article

Impulsivity-related traits are associated with higher white blood cell counts

scientific article

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

scientific article

Independent and additive effects of cytokine patterns and the metabolic syndrome on arterial aging in the SardiNIA Study

scientific article published on 30 December 2010

Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles ⬇️

scientific article published on September 23, 2003

Induction of specific neuron types by overexpression of single transcription factors

scientific article

Involvement of Wnt, Eda and Shh at defined stages of sweat gland development

scientific article

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Lhx8 ablation leads to massive autophagy of mouse oocytes associated with DNA damage.

scientific article published on 10 January 2018

Longevity candidate genes and their association with personality traits in the elderly

scientific article

Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells

scientific article published on 29 August 2007

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny

scientific article

Lymphotoxin-beta regulates periderm differentiation during embryonic skin development

scientific journal article

Mapping the road to resilience: novel math for the study of frailty

scientific article published on 25 September 2008

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

scientific article

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

scientific article

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

scientific article published in June 2009

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

scientific article published on 11 September 2015

Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder

scientific article

Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels

scientific article

Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past

scientific article

Molecular dynamics of Dkk4 modulates Wnt action and regulates meibomian gland development

scientific article published on 18 November 2016

Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease

scientific article (publication date: 17 September 2013)

NFAT5 and SLC4A10 Loci Associate with Plasma Osmolality

scientific article published on 30 March 2017

Neuroticism, depressive symptoms, and serum BDNF.

scientific article

New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

New genetic loci link adipose and insulin biology to body fat distribution

scientific article

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

scientific article

Next-generation genotype imputation service and methods

scientific article published on 29 August 2016

No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects

scientific article

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling

scientific journal article

PLAC1 (Placenta-specific 1): a novel, X-linked gene with roles in reproductive and cancer biology

scientific article

PLAC1, a trophoblast-specific gene, is expressed throughout pregnancy in the human placenta and modulated by keratinocyte growth factor

scientific article

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

Personality and metabolic syndrome

scientific article

Personality traits and circadian blood pressure patterns: a 7-year prospective study

scientific article

Personality traits and facets linked with self-reported alcohol consumption and biomarkers of liver health

scientific article published on 6 March 2018

Personality traits and leptin

scientific article published on 22 May 2013

Personality traits in Sardinia: testing founder population effects on trait means and variances

scientific article published on 14 September 2006

Personality traits prospectively predict verbal fluency in a lifespan sample

scientific article published on 27 June 2011

Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function

scientific article published on June 2008

Plac8 and Plac9, novel placental-enriched genes identified through microarray analysis

scientific article published on May 2003

Prevalence of CKD and its relationship to eGFR-related genetic loci and clinical risk factors in the SardiNIA study cohort

scientific article

Rare coding variants and X-linked loci associated with age at menarche

scientific article

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

scientific article published on 8 October 2014

Repertoire of mouse ectodysplasin-A (EDA-A) isoforms

scientific article

Requirement for Shh and Fox family genes at different stages in sweat gland development

scientific article published on 06 March 2009

SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits ⬇️

scientific article published on 24 October 2012

SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.

scientific article

SOX9 accelerates ESC differentiation to three germ layer lineages by repressing SOX2 expression through P21 (WAF1/CIP1)

scientific article

STIM1, but not STIM2, Is the Calcium Sensor Critical for Sweat Secretion

scientific article published on 17 October 2017

Sex-specific correlates of walking speed in a wide age-ranged population

scientific article

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Shh is required for Tabby hair follicle development ⬇️

scientific article published on October 1, 2011

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

scientific article

Systematic repression of transcription factors reveals limited patterns of gene expression changes in ES cells

scientific article published on January 2013

The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

The EDA gene is a target of, but does not regulate Wnt signaling

scientific article

The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts

scientific article

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The central arterial burden of the metabolic syndrome is similar in men and women: the SardiNIA Study

scientific article

The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity

scientific article

The molecular genetic architecture of self-employment

scientific article

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Trait antagonism and the progression of arterial thickening: women with antagonistic traits have similar carotid arterial thickness as men.

scientific article

Transcriptional control of ovarian development in somatic cells

scientific article published on July 2007

Transcriptome analysis of mouse stem cells and early embryos

scientific article

Troy binding to lymphotoxin-alpha activates NF kappa B mediated transcription

scientific article published on 5 October 2007

Variants in MTNR1B influence fasting glucose levels

scientific article

Variants of the serotonin transporter gene and NEO-PI-R Neuroticism: No association in the BLSA and SardiNIA samples

scientific article

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

scientific journal article

Variation in human chromosome 21 ribosomal RNA genes characterized by TAR cloning and long-read sequencing

article

X-linked anhidrotic ectodermal dysplasia disruption yields a mouse model for ocular surface disease and resultant blindness

scientific article

fastMitoCalc: an ultra-fast program to estimate mitochondrial DNA copy number from whole-genome sequences

scientific article published on May 2017

miRNAs Are Required for Postinduction Stage Sweat Gland Development

scientific article published on 9 March 2017

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