Young Investigator Awards
Past Winners of the
- Young Investigator Awards for outstanding science presented at the conference
- Isabelle Oberlé Award for and outstanding presentation in the field of mental retardation
- Lodewijk Sandkuijl Award for an outstanding talk in the field of complex genetics and statistical genetics
- Vienna Medical Academy Award for the best talk in translational genetic research, therapy of genetic diseases, including societal impact
- Mia Neri Award for the best talk in childhood cancer
- ESHG Poster Awards
For pictures of the awarding ceremonies, click here
European Human Genetics Conference 2017
Young Investigator Awards for Outstanding Science | ||
Miriam Bauwens (Ghent, Belgium) | Hidden genetic variation in Stargardt disease: novel copy number variations, cis-regulatory and deep-intronic splice variants of the ABCA4 locus Presentation Number: C11.5 | |
Magdalena Socha (Poznan, Poland) | A 10q24.32 duplication causes bilateral femoral hypoplasia through formation of a novel sub-TAD Presentation Number: C05.4 | |
Anja J. Will (Berlin, Germany) | Enhancer composition and dosage control developmental gene expression Presentation Number: PL2.1 | |
Norine Voisin (Lausanne, Switzerland) | Variants in the degron motif of AFF3 cause a multi-system disorder with skeletal dysplasia and severe neurologic involvement Presentation Number: C20.3 | |
Isabelle Oberlé Award
| ||
Patrick Short |
| De novo mutations in regulatory elements cause neurodevelopmental disorders |
Lodewijk Sandkuijl Award
| ||
Rufus Cartwright (London, United Kingdom) | Genome wide association study identifies two novel loci associated with female stress and urgency urinary incontinence Presentation Number: C18.4 | |
Vienna Medical Academy Award
| ||
Svenja Schneider (Cologne, Germany) | Neurocalcin delta as a novel protective modifier for spinal muscular atrophy: A full story from gene identification to therapy Presentation Number: C08.2 | |
Mia Neri Award | ||
Judith E. Grolleman (Nijmegen, The Netherlands) | A somatic mutational signature in different tumor types associated with biallelic germline NTHL1 mutations Presentation Number: C17.4 | |
ESHG Poster Awards
| ||
Alexis Cooper | Characterization of the expression of the imprinted Kcnk9-gene in specific brain regions and the phenotypic analysis of Kcnk9-knockout mice Presentation Number: P17.01A | |
Lara Rodriguez Laguna (Madrid, Spain) | Somatic activating PIK3CA mutations cause CLAPO syndrome Presentation Number: P11.001A | |
Poster Award Finalists | ||
Svenja Kohler (Lübeck, Germany) | Col6A2 p.G283E: antisense-induced mRNA knockdown as a possible treatment strategy | |
Tessa van Dijk (Amsterdam, The Netherlands) | Mutations in CoA Synthase cause pontocerebellar hypoplasia | |
Renata Bordeira-Carriço (Porto, Portugal) | Unveiling the regulatory landscapes of genes involved in pancreatic cancer using a zebrafish model | |
Rodrigo C. Almeida (Curitiba, Brazil) | Integrative approach and eQTL analysis identify breast cancer risk genetic variants affecting microRNA binding sites | |
Pierre Vabres (Dijon, France) | Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome |
European Human Genetics Conference 2016
Young Investigator Awards for Outstanding Science | ||
Emma Wade (Dunedin, New Zealand) | Mutations in MAP3K7 and TAB2 that alter the activity of the TAK1 signalling complex cause frontometaphyseal dysplasia Presentation Number: C12.1 | |
Jelena Pozojevic (Lübeck) | Loss of a non-coding regulatory element on chromosome 9 in a family with a Cornelia de Lange syndrome (CdLS)-like phenotype Presentation Number: C12.4 | |
Rocio Acuna-Hidalgo (Nijmegen) | Genetic and functional comparison of identical germline and somatic SETBP1 mutations Presentation Number: C12.6 | |
Martin Mensah (Berlin) | Image analysis of patients with dysmorphic facial features boosts diagnostic yield in exome studies Presentation Number: C07.2 | |
Isabelle Oberlé Award
| ||
Maria Nicla Loviglio |
| A potential role for the linker for activation of T-cells (LAT) in the neuroanatomical phenotype of the 220kb 16p11.2 BP2-BP3 CNVs |
Lodewijk Sandkuijl Award
| ||
Sina Rüeger (Lausanne) | Summary statistic imputation method enables conditional analysis across meta-analysis studies: Application to GIANT height associations from exome-chip & HapMap Presentation Number: C08.3 | |
Vienna Medical Academy Award
| ||
Michael Parks (Birmingham) | Validation of non-invasive prenatal diagnosis (NIPD) of multiple single gene disorders for clinical implementation Presentation Number: C13.1 | |
Mia Neri Award | ||
Barbara Rivera (Montreal, CA) | Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors Presentation Number: C05.1 | |
ESHG Poster Awards
| ||
Dragana Vuckovic | Unravelling human complex traits: the case of hearing function and age related hearing loss Presentation Number: P02.09A | |
Maarten Massink (Utrecht) | Loss-of-Function mutations in the WNT co-receptor LRP6 cause autosomal-dominant oligodontia Presentation Number: P04.070B | |
Poster Award Finalists | ||
Mattia Bosio (Barcelona) | GEUVADIS European Exome Variant Server: Variant allele frequency aggregation from multicentre, access-restricted data | |
Tim Van Damme (Ghent) | Mutations in the E subunit of the vacuolar ATPase complex cause a novel type of autosomal recessive cutis laxa | |
Omar Soukarieh (Rouen) | Functional assays and bioinformatics predictions reveal a high contribution of splicing mutations in the most frequent forms of hereditary cancer | |
Eva De Vilder (Ghent) | Rare modifier variants alter the severity of cardiovascular disease in Pseudoxanthoma Elasticum | |
Lara Rodriguez Laguna (Madrid) | Genetic and genomic analysis in patients affected by Gorham-Stout disease and general lymphatic anomalies |
European Human Genetics Conference 2015
Young Investigator Awards for Outstanding Science | ||
Anne Guimier (Paris) | Recessive mutations in matrix metallopeptidase 21 (MMP21) cause heterotaxy in humans Presentation Number: C05.5 | |
Darío Lupiáñez (Berlin) | Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions Presentation Number: PL2.4 | |
Emma Baple (Southampton) | Homozygous truncating mutations in WDR73 cause a severe nephrocerebellar syndrome, part of the Galloway Mowat syndrome spectrum Presentation Number: C23.4 | |
Julie Rutten (Leiden) | Cysteine Correction of NOTCH3: exon skipping as a potential therapeutic strategy for CADASIL Presentation Number: C10.5 | |
Isabelle Oberlé Award
| ||
Dorien Haesen |
| De novo and recurrent PPP2R5D and PPP2R1A missense mutations cause protein phosphatase 2A dysfunction and intellectual disability |
Lodewijk Sandkuijl Award
| ||
Peter Joshi (Edinburgh) | Evidence for directional dominance on complex traits relating to size and cognition in a wide range of human populations Presentation Number: C22.6 | |
Vienna Medical Academy Award
| ||
Michael Parks (Birmingham) | Non-invasive prenatal diagnosis (NIPD) of Duchenne and Becker muscular dystrophies (DMD/BMD) by relative haplotype dosage Presentation Number: C01.4 | |
Mia Neri Award | ||
Marjolijn Jongmans (Nijmegen) | High yield of causative mutations by whole exome sequencing in selected individuals with childhood cancer Presentation Number: C09.4 | |
ESHG Poster Awards
| ||
Caroline Biagosch (Neuherberg) | Fast and effective genome editing to study dominant de novo mutations: the WDR45 example Presentation Number: PM08.70 | |
Sanne D'hondt (Ghent) | Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development Presentation Number: P04.76 | |
Poster Award Finalists | ||
Letizia Straniero (Rozzante) | The plant cytokine kinetin as a potential therapeutic agent to correct CFTR splicing defects Presentation Number: PM15.20 | |
Caroline Van Cauwenbergh (Ghent) | SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein Presentation Number: PS02.05 | |
Andrea Deutschmann (Innsbruck) | Impaired mitochondrial RNA processing in HSD10 disease Presentation Number: PM06.22 | |
Delfien Syx (Ghent) | Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis Presentation Number: PS04.23 | |
Eliška Holzerová (Neuherberg) | Thioredoxin 2 deficiency causes early-onset neurodegeneration Presentation Number: PM06.66 |
European Human Genetics Conference 2014
Young Investigator Awards for Outstanding Science | ||
Laura M. Huckins (Hinxton) | Polygenic risk score analysis shows shared genetic aetiology between AN and five other psychiatric disorders Presentation Number: C11.2 | |
Danit Oz-Levi (Rehovot) | Deletion of a distant-acting enhancer near C16ORF91 underlies recessive congenital diarrhea Presentation Number: C17.4 | |
Marije Meuwissen (Rotterdam) | Interferon type 1 response regulator USP18 is mutated in severe pseudo-TORCH syndrome Presentation Number: C15.4 | |
Sofie Symoens (Ghent) | Defects in TAPT1, involved in Axial Skeletal Patterning, Cause a Complex Lethal Recessive Disorder of Skeletal Development Presentation Number: C10.5 | |
Isabelle Oberlé Award
| ||
Christian Gilissen |
| Genome sequencing identifies major causes of severe intellectual disability |
Lodewijk Sandkuijl Award
| ||
Jessica van Setten (Utrecht) | Genome of the Netherlands imputation identifies seven new loci for quantitative ECG traits in meta-analysis of 30,000 samples Presentation Number: C14.2 | |
Vienna Medical Academy Award
| ||
Nathalie Brison (Leuven) | Clinical implementation of non-invasive prenatal aneuploidy detection Presentation Number: C01.1 | |
ESHG Poster Awards
| ||
Loredana Poeta (Naples) | Functional studies of ARX mutants linked to neurophenotypes and Application of rescue strategies targeting KDM5C down-regulation Presentation Number: P08.10 | |
Victoria E. R. Parker (Cambridge) | A spectrum of disorders are associated with somatic mutations in PIK3CA, encoding the p110? catalytic subunit of phosphatidylinositol-4,5-bisphosphate 3-kinase Presentation Number: P04.52 | |
Poster Award Finalists | ||
Francesca Bianco (Bologna) | New genetic abnormalities underlying chronic intestinal pseudo-obstruction (CIPO) Presentation Number: P03.12 | |
Julien Thevenon (Dijon) | Exome sequencing reveals mutations of a solute carrier gene in an autosomal recessive form of epileptic encephalopathy of the first days of life Presentation Number: P09.051 | |
Danielle G. M. Bosch (Nijmegen) | NR2F1 mutations cause optic atrophy with intellectual disability Presentation Number: P08.18 | |
Sumitra Mohan (Graz) | Development of Acquired Resistance to Anti-EGFR Therapy in Colorectal Cancer Identified by Whole-Genome Plasma DNA Sequencing Presentation Number: P12.114 | |
Richarda M. de Voer (Nijmegen) | Identification of novel candidate genes for early-onset colorectal cancer susceptibility Presentation Number: P12.040 |
European Human Genetics Conference 2013
Young Investigator Awards for Outstanding Science | ||
Elisa Giorgio (Torino) | A large genomic deletion upstream of the lamin B1 gene (LMNB1) likely causes adult-onset autosomal dominant leukodystrophy due to alteration of the regulatory landscape of LMNB1 Presentation Number: C13.5 | |
Marjorie Hubeau (Paris) | Ion transporter deficiency predisposes to pyogenic bacterial infection by partial oxidative burst defect in granulocytes Presentation Number: C14.6 | |
Alessia Indrieri (Naples) | Mutations in nuclear-encoded components of mitochondrial respiratory chain complex III and IV cause apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates Presentation Number: C07.3 | |
Vikram Sharma (Oxford) | Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis Presentation Number: PL2.1 | |
Isabelle Oberlé Award
| ||
Marjolein H. Willemsen |
| GATAD2B loss-of-function mutations cause a recognizable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila |
Lodewijk Sandkuijl Award
| ||
Pier Francesco Palamara (New York City) | Haplotype sharing reveals fine-scale demographic history Presentation Number: C09.2 | |
Vienna Medical Academy Award
| ||
Joep de Ligt (Nijmegen) | Detection of clinically relevant copy number variants with whole exome sequencing Presentation Number: C15.6 | |
ESHG Poster Awards
| ||
Sandrina Turczynski (Paris) | Antisense mediated exon skipping gene therapy for dystrophic epidermolysis bullosa Presentation Number: P01.117 | |
Jamal Ghoumid (Créteil) | ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome Presentation Number: P02.100 | |
Poster Award Finalists | ||
Pauline Krug (Paris) | Targeted “ciliome” sequencing for gene identification in nephronophthisis and associated ciliopathies Presentation Number: P13.57 | |
Tessel Rigter (Amsterdam) | Reflecting on earlier experiences with unsolicited findings: Points to consider for next generation sequencing and informed consent in diagnostics Presentation Number: P18.52 | |
Xavier Gérard (Paris) | Antisense oligonucleotide-mediated exon skipping to treat 10% of Leber congenital amaurosis cases Presentation Number: P03.36 | |
Siew-Kee Low (Tokyo) | The genetic study of intracranial aneurysm in the Japanese population Presentation Number: P01.017 |
European Human Genetics Conference 2012
Young Investigator Awards for Outstanding Science | ||
Malte Spielmann |
| Arm to Leg Transformation in Humans associated with CNVs at the PITX1 locus |
Nady El Hajj |
| Metabolic reprogramming of the epigenome by intrauterine exposure to gestational diabetes |
Hélène Louis dit Picard |
| KLHL3 and Cullin-3 mutations cause Familial Hyperkalemic Hypertension by impairing ion transport in the distal nephron |
Cédric Howald |
| The ENCODE effort combining RNA-seq and RT-PCR-seq allows to catalog thousands of novel lncRNAs |
Isabelle Oberlé Award
| ||
Marjolein H. Willemsen |
| Identification and characterization of genetic disorders with ID in diagnostics and diagnostic related research |
Lodewijk Sandkuijl Award
| ||
Lars G. Fritsche |
| Seven New Loci Associated with Age-Related Macular Degeneration |
Vienna Medical Academy Award
| ||
Lutz Garbes (Cologne)
|
| SMA patients show concordant responses to valproic acid from blood to neurons while nonresponsivness is facilitated by CD36 |
ESHG Poster Awards
| ||
Simone Berkel (Heidelberg) |
| Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology |
Miriam Schmidts (London) |
| Mutations in a novel dynein assembly factor PF22 (DNAAF3) cause cilia dysmotility and left-right-axis defects |
Poster Award Finalists | ||
Melanie Hambrock (Berlin) | The atypical Rett-syndrome protein CDKL5 promotes excitatory synapse formation by strengthening the interaction between NGL-1 and the postsynaptic scaffold protein PSD95 P12.042 | |
Daria Witt (Göttingen) | Valproic acid achieves its anticancer activity by re-expression of cyclin D2 P06.213 | |
Walter Pulverer (Vienna) | Exploring the methylome of thyroid cancer at single C resolution: From screening to clinical diagnostics P06.207 | |
M.Reza R. Sailani (Geneva) | Identifying genetic determinants of congenital heart defect in Down syndrome P08.11 |
European Human Genetics Conference 2011
Young Investigator Awards for Outstanding Science | ||
Hugo Prazeres |
| Chromosomal, epigenetic and microRna-mediated inactivation of LRP1B, a modulator of the extracellular environment of thyroid cancer cells |
Marjolijn Jongmans |
| Revertant somatic mosaicism in Dyskeratosis Congenita by mitotic recombination |
Jovana Serbanovic-Canic |
| Functional validation of GWAS loci for platelet traits in Danio rerio reveals new regulators of haematopoiesis |
Heleen Arts |
| Sensenbrenner syndrome is caused by dysfunctional IFT-A mediated retrograde transport in the cilium |
Isabelle Oberlé Award
| ||
Audrey Letourneau |
| mRNA-Seq analysis of monozygotic twins discordant for Trisomy 21 reveals large chromosomal domains of gene expression dysregulation |
Lodewijk Sandkuijl Award
| ||
Mark McCormack |
| HLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans |
ESHG Poster Awards
| ||
Veronique Adoue |
| Human cis-regulatory SNPs (cis-SNPs) altering transcription factors binding and gene expression |
Mike Gerards |
| Riboflavin responsive OXPHOS complex I deficiency caused by defective ACAD9: new function for an old gene |
Poster Award Finalists | ||
Siddharth Banka (Manchester) | Identification and characterization of a novel inborn error of metabolism caused by Dihydrofolate reductase deficiency P13.08 | |
Giorgia Girotto (Trieste) | A genome-wide association study in European isolated populations identifies new loci and pathways for hearing function, thresholds and age-related loss P08.42 | |
Flore Zufferey (Lausanne) | Reciprocal extreme BMI phenotypes associated with gene dosage at the 16p11.2 locus P02.003 | |
Joana Carvalho (Porto) | MicroRNA-101 modulates E-cadherin expression and function through EZH2 up-regulation in gastric cancer P06.090 |
European Human Genetics Conference 2010
Young Investigator Awards for Outstanding Science | ||
Louise Harewood |
| The Effect of Translocation-Induced Nuclear Re-organization on Gene Expression |
Silke Nuber |
| Expression of Mutant A30P alpha-Synuclein in Conditional Mouse Brain: Implications for Early Stage of Parkinson's Disease |
Sabrina Carrella |
| The microRNA miR-204 is required for vertebrate eye development |
Olli Pietiläinen |
| Inverse mapping approach implies the role of large CNVs in intellectual deficits and learning difficulties in a population cohort |
Shushant Jain (Amsterdam) | Phenotypic modifiers of DJ1 Session: C04 Sensory Disorders and Neurobiology | |
Isabelle Oberlé Award
| ||
Suleyman Gulsuner |
| Targeted next generation sequencing identifies a mutation associated with cerebellar hypoplasia and mental retardation with quadrupedal locomotion |
Lodewijk Sandkuijl Award
| ||
Gosia Trynka |
| Multiple common genetic variants for coeliac disease influencing immune gene expression |
ESHG Poster Awards
| ||
Emma Burkitt Wright |
| SHOC2 mutations in patients with cardio-facio-cutaneous syndrome P02.036 |
Alev Erogullari |
| A functional link of DYT1 and DYT6 dystonia: Repression of TOR1A (DYT1) gene expression by the transcription factor activity of THAP1 (DYT6) |
European Human Genetics Conference 2009
Young Investigator Awards for Outstanding Science | ||
Louise Harewood (Lausanne) | The Effect of Translocation-Induced Nuclear Re-organization on Gene Expression | |
Eva Klopocki (Berlin) | Duplication of conserved non-coding sequence elements - a novel mechanism in the pathogenesis of congenital malformations | |
Lucia Micale (San Giovanni Rotondo) | TheTRIM8 gene is a novel player of p53 pathway | |
Andrew Sharp (Geneva) | Methylation profiling in cases with uniparental disomy identifies novel imprinted genes on chromosome 15 | |
Isabelle Oberlé Award | ||
Sergio Sousa (Coimbra) | Nicolaides-Baraitser Syndrome - Delineation of the Phenotype | |
Lodewijk Sandkuijl Award | ||
Alexandra Zhernakova (Utrecht) | The common and specific genetic backgrounds of rheumatoid arthritis and celiac disease | |
ESHG Poster Awards | ||
V. M. Kalscheuer (Berlin) | Towards understanding the pathogenetic mechanism of PQBP1 mutations in X-linked mental retardation | |
S. Manouvrier-Hanu (Lille) | Array-CGH analysis in a series of 54 index patients with limb malformation identified more than 10% anomalies |
European Human Genetics Conference 2008
Young Investigator Awards for Outstanding Science | ||
Beatrice Bodega (Milan) | Polycomb complex shapes the higher order of D4Z4 chromatin structure during differentiation of normal and FSHD muscle stem cells | |
Sandra Pasternack (Bonn) | G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth | |
Annie Rebibo Sabbah (Haifa) | Evaluating suppression of nonsense mutations by aminoglycoside antibiotics as an intervention for vision loss in type I Usher syndrome | |
Serena Sanna (Monserrato) | Genome-wide association scan for serum TSH levels in 2375 Sardinians | |
Isabelle Oberlé Award | ||
Florence Molinari (Paris) | Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation | |
Lodewijk Sandkuijl Award | ||
Erika Salvi (Milan) | Comparison of different methods to estimate genetic ancestry and control for stratification in genome-wide association studies | |
ESHG Poster Awards | ||
Imke Christiaans (Amsterdam) | The yield of cascade screening and risk stratification for sudden cardiac death in hypertrophic cardiomyopathy MYBPC3 gene mutation carriers | |
Ana Isabel Vega (Milan) | Congenital Disorder of Glycosylation type Ia: antisense therapeutics for an intronic variation causing exonization of an intronic sequence |
European Human Genetics Conference 2007
Young Investigator Awards for Outstanding Science | ||
Julie Mollet (Paris) | Prenyldiphosphate synthase PDSS1 and OH-benzoate prenyltransferase COQ2 mutations in ubiquinin deficiency and oxidative phosphorylation disorders | |
Zrinka Biloglav (Zagreb) | Epidemics of viral hemorrhagic fever in Medieval times as a possible selection pressure for CCR5del32 in Europe; new insights from Croatian island isolates | |
Liat Linde (Jerusalem) | Nonsense-mediated mRNA decay regulates response of cystic fibrosis patients to gentamycin | |
Emma N. Hilton (Manchester) | Left-sided embryonic expression of the BCL-6 corepressor BCOR, is required for vertebrate laterality determination | |
Dagan Jenkins (Oxford) | RAB23 mutations in Carpenter syndrome imply an unexpected role for the Hedgehog signalling in cranial suture development and obesity | |
Isabelle Oberlé Award | ||
Frank J. Kaiser (Lübeck) | The cohesion protein NIPBL recruits histone deacetylases to mediate chromatin remodelling | |
Lodewijk Sandkuijl Award | ||
Vincent Plagnol (Cambridge) | A genome-wide assessment of the genetic basis of type 1 diabetes |
European Human Genetics Conference 2006
Young Investigator Awards for Outstanding Science | ||
Carmine Settembre (Naples) | Life without sulfatases: exploiting a mouse model of multiple sulfatase deficiency | |
Vladimir V. Strelnikov (Moscow) | Identification of methylation and expression abnormalities associated with breast cancer | |
Anne Fechter (Heidelberg) | Targeted cloning of fragile sites - based on a previous tagging of fragile regions in a breast cancer cell line | |
Ursula M. Smith (Birmingham) | The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome | |
Isabelle Oberlé Award | ||
Tjitske Kleefstra (Nijmegen) | Haploinsufficiency of the Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) gene causes the 9q subtelomeric deletion syndrome. | |
Lodewijk Sandkuijl Award | ||
Samuel Deutsch (Geneva) | Quantitative mapping of loci influencing susceptibility to lentiviral infection | |
Christoph Lange (Boston, MA) | Screening and replication using the same data set: A testing strategy for case/control studies |
European Human Genetics Conference 2005
Young Investigator Awards for Outstanding Science | ||
Silvia Paracchini (Oxford) | Chromosome 6p22 risk haplotype for dyslexia is associated with a reduced expression of KIAA0319 gene | |
William J. Tapper (Southampton) | The first genome wide linkage disequilibrium map | |
Aida I. Al-Aqeel (Riyadh) | Ethics and Genetics: An Islamic Perspective | |
Isabelle Oberlé Award | ||
Bartlomiej Budny (Berlin/Poznan) | A new XLMR syndrome characterized by mental retardation, primary ciliary dyskinesia and macrocephaly, caused by a novel mutation in OFD1 | |
Lodewijk Sandkuijl Award | ||
Aaron Isaacs (Rotterdam) | Plasma lipids: heritabilities, apoE, and effects of inbreeding in a genetically isolated population |
European Human Genetics Conference 2004
Young Investigator Awards for Outstanding Science | ||
Ernie Bongers (Nijmegen) | Mutations in the human TBX4 gene cause small patella syndrome | |
Hilde Peeters (Leuven) | PA26 is a candidate gene for human heterotaxia | |
Aurora Pujol (Strasbourg) | Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-linked adrenoleukodystrophy | |
Nitin Sabherwal (Heidelberg) | Novel point mutations R173C and A170P in the SHOX homeodomain defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia | |
Birgit Zirn (Giessen) | Expression profiling of Wilms tumors reveals novel prognostic markers | |
Isabelle Oberlé Award | ||
Gajja Salomons (Amsterdam) | High prevalence of SLC6A8 deficiency, a novel X-linked mental retardation syndrome | |
Lodewijk Sandkuijl Award | ||
Manuel A. R. Ferreira (Brisbane) | Accounting for strong age-specific sex-limitation in IgE QTL linkage analysis |
European Human Genetics Conference 2003
Young Investigator Awards for outstanding science | ||
Slawomir Wisniewski (Poznan) | Mutations of EDA, EDARADD and TRAF6 genes in anhidrotic ectodermal dysplasia genotype/phenotype correlation. | |
Michel De Vos (Leeds) | PMS2 mutation as a cause of primitive neuroectodermal tumours of childhood | |
Martine J. van Belzen (Utrecht) | A major non-HLA locus in coeliac disease maps to chromosome 19 | |
Isabelle Oberlé Award | ||
Joris A. Veltman (Nijmegen) | High resolution whole genome microdeletion screening by array CGH |
European Human Genetics Conference 2002
Young Investigator Awards for outstanding science | ||
John Common (London) | Genetic and functional analysis of connexins in skin disease and deafness | |
Heymut Omran (Freiburg) | Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry | |
Richard Redon (Illkirch) | Cyclin L/Ania-6a, a gene located at 3q25, is amplified and overexpressed in a head and neck cancer cell line | |
Isabelle Oberlé Award | ||
Florence Molinari (Paris) | Mutation in Neurotrypsin is responsible for autosomal recessive non-specific mental retardation |