The European Society
of Human Genetics

Early Career Award Winners

Early Career Awards

Past Winners of the
- Early Career Awards for outstanding research by young scientists presented as a spoken contribution at the conference
- Isabelle Oberlé Award for and outstanding presentation in the field of genetics of intellectual disability 
- 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 cancer research
- ESHG Poster Awards

For pictures of the awarding ceremonies, click here

European Human Genetics Conference 2022

Early Career Awards for Outstanding Science
Jana Henck
(Berlin, Germany)


Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development
Presentation Number: PL2.1
Paniz Farshadyeganeh
(Nagoya, Japan)


Interactions between muscle glucose homeostasis and neuromuscular signal transduction – Lessons learned from lack of a muscle-specific long isoform of GFPT1
Presentation Number: C09.5
Alexander Blakes
(Manchester, United Kingdom)


A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Presentation Number: C20.5
Dmitrii Smirnov
(Munich, Germany)


Integration of RNA-seq functional evidence into the ACMG/AMP variant interpretation framework
Presentation Number: C22.5
Isabelle Oberlé Award
Juliet Hampstead
(Nijmegen, Netherlands)


Identifying disorder-specific DNA methylation signatures in patients with severe developmental disorders
Presentation Number: C11.4


Lodewijk Sandkuijl Award
Sven Erik Ojavee
(Lausanne, Switzerland)


Estimating age-specific genetic effects for age-at-onset phenotypes
Presentation Number: C12.2
Vienna Medical Academy Award
Ricardo Moreno Traspas
(Singapore, Singapore)


Loss of FOCAD, operating in the SKI mRNA surveillance pathway, is responsible for a syndromic form of pediatric liver cirrhosis
Presentation Number: C10.5
Mia Neri Award
Fabienne Meier-Abt
(Schlieren, Switzerland)


How protein expression links somatic mutations to tumor phenotypes in chronic lymphocytic leukemia
Presentation Number: C24.4
ELPAG Young Investigator Award
Maria Siermann
(Leuven, Belgium)


Preimplantation genetic testing for polygenic conditions (PGT-P): perspectives of healthcare professionals
Presentation Number: C06.5
ESHG Poster Awards
Selina Hölzel
(Bonn, Germany)


Disruption of zfhx4 leads to defects in zebrafish craniofacial development matching human characteristics of nonsyndromic cleft lip with cleft palate
Presentation Number: P05.001.B (Best Poster in Basic Research)
Laurens Hannes
(Leuven, Belgium)


Differential alternative splicing analysis to link variation in ZRSR2 to a novel syndrome with oral, digital and brain anomalies
Presentation Number: P12.026.D (Best Poster in Clinical Research)
Poster Award Finalists
Elisa Cali
(London, United Kongdom)


Loss of C-terminal Mediator Complex subunit-11 impairs fetal brain development and cause severely progressive neurodegeneration
Presentation Number: P10.083.B


Marie-Claire Cornips
(Utrecht, Netherlands)


Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Presentation Number: P12.005.C


Clare Benson
(London, United Kingdom)


Investigating Rho dysregulation in Adams-Oliver syndrome as a model of vascular development
Presentation Number: P12.007.A


Mattia Cordioli
(Helsinki, Finland)


Genetic and environmental determinants of drug adherence
Presentation Number: P19.012.C


Nikoletta Papaioannou
(Nicosia, Cyprus)


Genome editing for beta-haemoglobinopathies without double-strand DNA cleavage
Presentation Number: P22.008.C



European Human Genetics Conference 2021

Early Career Awards for Outstanding Science
Ryan Collins
(Boston, United States)
A cross-disorder dosage sensitivity map of the human genome
Presentation Number: PL2.3
Jack Collier
(Newcastle, United Kingdom)
Biallelic ATG7 variants impair autophagy leading to neurological disease
Presentation Number: PL2.4
Amal Elfatih
(Doha, Qatar)
Analysis of medically actionable variants in the 59 ACMG genes using 6045 whole genomes from the Qatar Genome Program
Presentation Number: C25.5
Artem Kim
(Rennes, France)
How silence shapes the brain: synonymous variants alter codon usage and translation of Sonic Hedgehog in holoprosencephaly
Presentation Number: C24.2
Lore Pottie
(Ghent, Belgium)
Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
Presentation Number: C08.2
Isabelle Oberlé Award
Jeshurun Kalanithy
(Bonn, Germany)
Monoallelic variants in TFAP2E cause central nervous system and craniofacial anomalies
Presentation Number: C16.3
Lodewijk Sandkuijl Award
Chiara Auwerx
(Lausanne, Switzerland)
The impact of copy number variants on complex human traits
Presentation Number: C03.5
Vienna Medical Academy Award
Dieter Tulkens
(Ghent, Belgium)
Identifying and characterizing EZH2 as a druggable dependency factor for desmoid tumors in a genetic Xenopus tropicalis model for Gardner’s Syndrome
Presentation Number: C20.2
Mia Neri Award
Thorben Huth
(Heidelberg, Germany)
Investigation of tumor suppressor gene loss on chromosome 8p in hepatocellular carcinoma using chromosome editing
Presentation Number: C20.4
ELPAG Young Investigator Award
Tatiane Yanes
(Brisbane, Australia)
Breast cancer polygenic risk scores: A 12-month prospective study of patient reported outcomes and risk management behaviour
Presentation Number: C12.5
ESHG Poster Awards
Sodbo Sharapov
(Novosibirsk, Russia)
Meta-analysis of genome-wide association studies for N-glycosylation in 10,000 individuals
Presentation Number: P24.017.D (Best Poster in Basic Research)
Jet van der Spek
(Nijmegen, Netherlands)
Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome
Presentation Number: P08.015.A (Best Poster in Clinical Research)
Poster Award Finalists
James Fasham
(Exeter, United Kingdom)
SCN9A gene variants do not cause monogenic epilepsy in humans
Presentation Number: P09.048.A
Janna Hol
(Utrecht, Netherlands)
High rate of (epi)genetic predisposing factors and an important role for DIS3L2 in a nationwide Wilms tumor cohort
Presentation Number: P12.201.A
Jeroen Smits
(Nijmegen, Netherlands)
A RIPOR2 in frame deletion is a frequent and highly penetrant cause of adult onset hearing loss
Presentation Number: P02.030.C
Miguel Xavier
(Newcastle upon Tyne, United Kingdom)
Are children born after medical assisted reproduction at greater risk of having an increased de novo mutation rate?
Presentation Number: P01.040.D
Hanna Zieger
(Bonn, Germany)
Systematic analysis of non-coding de novo mutations from whole genome sequence data of triads with non-syndromic cleft lip with/without cleft palate
Presentation Number: P04.064.A


European Human Genetics Conference 2020

Early Career Awards for Outstanding Science

Karolis Šablauskas
(Nijmegen, The Netherlands)

Improved de novo mutation detection through deep learning
Presentation Number: C03.2

Diewertje Houtman
(Rotterdam, The Netherlands)

Public attitudes towards human germline gene editing: A baseline survey in the Netherlands
Presentation Number: C07.5
Zhongbo Chen
(London, United Kingdom)
Human-lineage-specific genomic elements are enriched within genes implicated in neurodegenerative diseases
Presentation Number: C20.5

Cesar Prada-Medina
(Berlin, Germany)

Transcriptional single-cell atlas of human limb malformation candidate genes
Presentation Number: C29.4
Aude Beyens
(Ghent, Belgium)
Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia
Presentation Number: C29.3
Isabelle Oberlé Award
Eva D'haene
(Gent, Belgium)

Mechanistic dissection of chromatin topology disruption in the 5q14.3 MEF2C locus as an indirect driver of neurodevelopmental disorders
Presentation Number: C02.5

Lodewijk Sandkuijl Award
Liza Darrous
(Lausanne, Switzerland)
Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics
Presentation Number: C21.5
Vienna Medical Academy Award
Huiwen Che
(Leuven, Belgium)
Non-invasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA
Presentation Number: C01.5
Mia Neri Award
Marie Coutelier
(Montreal, Canada)
When the silent genome gets loud: transcription of repeated genomic elements at the single-cell resolution in K27M-mutated high-grade gliomas
Presentation Number: C13.3
ELPAG Young Investigator Award
Rowan Forbes Shepherd
(Melbourne, Australia)
Negotiating autonomy and interdependence with family: how young people and health professionals navigate genetic testing for Li-Fraumeni syndrome
Presentation Number: C23.4
ESHG Poster Awards
Anouk Verboven
(Nijmegen, Netherlands)
MEA-seq for combined gene expression and neuronal network measurements in iPSC-derived neurons from Koolen-de Vries patients
Presentation Number: P08.072.C (Best Poster in Basic Research)
Sabrina Mechaussier
(Paris, France)
Loss of function of RIMS2, a synaptic membrane exocytosis gene, causes a new phenotype characterized by congenital cone-rod synaptic disease associated with neurodevelopmental and pancreatic involvement
Presentation Number: P02.68.A (Best Poster in Clinical Research)
Poster Award Finalists
Mariël Teunissen
(Maastricht, The Netherlands)

De novo loss of function mutations in ANK2 cause a neurodevelopmental disorder with autism and early onset epilepsy
Presentation Number: P08.004.A

Hila Fridman
(Jerusalem, Israel)
The landscape of autosomal-recessive pathogenic variants in the European population
Presentation Number: P19.014.C
Elena Bernabeu
(Midlothian, United Kingdom)

Widespread sexual differences in genetic architecture in UK Biobank
Presentation Number: P19.090.A

Shuang Li
(Groningen, The Netherlands)

Leveraging a co-methylation network to predict regulatory effects of DNA methylation sites and human phenotypes
Presentation Number: P20.21.C

Paria Torbati
(Mashhad, Iran)

A treatable hereditary polyneuropathy due to impaired Vitamin B6 metabolism
Presentation Number: P10.44.C


European Human Genetics Conference 2019

Young Investigator Awards for Outstanding Science
Lila Allou
(Berlin, Germany)
Loss of MAENLI, a newly characterized lncRNA, results in limb specific inactivation of EN1 and a dorsal dimelia limb phenotype
Presentation Number: PL2.5
Natalia Mendoza Ferreira 
(Cologne, Germany)
Mutations in the Golgi protein GBF1 as a novel cause of
distal hereditary motor neuropathy
Presentation Number: C20.2
Manon Oud
(Nijmegen, The Netherlands)
Exome sequencing reveals de novo mutations and deletions in severe idiopathic male infertility
Presentation Number: C04.4
Lot Snijders Blok
(Nijmegen, The Netherlands)
De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder
Presentation Number: C12.3
Arthur Sorlin
(Dijon, France)
Genetic basis of mosaic pigmentary disorders of the skin and how to detect them:
the M.U.S.T.A.R.D. cohort’s experience
Presentation Number: C24.5
Isabelle Oberlé Award
Lisanne Vervoort
(Leuven, Belgium)

Optical mapping of 22q11.2 low copy repeats reveals structural hypervariability
Presentation Number: C219.3

Lodewijk Sandkuijl Award
Tom Richardson
(Bristol, United Kingdom)
A transcriptome-wide Mendelian randomization study to uncover tissuedependent regulatory mechanisms across the human phenome
Presentation Number: C25.1
Vienna Medical Academy Award
Uira Melo
(Berlin, Germany)
Chromosome conformation capture (HiC) combined with whole genome sequencing for the detection and functional interpretation of complex genomic rearrangements in developmental disease
Presentation Number: C01.3
Mia Neri Award
Rita Barbosa-Matos
(Porto, Portugal)
Structural variations at CDH1 intronic cis-regulatory elements cause CDH1/E-cadherin loss of function
Presentation Number: C17.3
ELPAG Young Investigator Award
Danya Vears
(Parkville, Australia)
Genetic health professionals’ experiences returning results from diagnostic genomic sequencing to patients
Presentation Number: C22.2
ESHG Poster Awards
Ronja Hollstein
(Bonn, Germany)
Identification and characterization of microRNA-149, a candidate for orofacial clefting
Presentation Number: P04.41A (Best Poster in Basic Research)
Guillaume Jouret
(Reims, France)
Understanding microcephaly/macrocephaly mechanisms in the new 19p13.3 microduplication/microdeletion syndrome
Presentation Number: P11.03C (Best Poster in Clinical Research)
Poster Award Finalists
Bettina Zimmermann
(Basel, Switzerland)

Most issues covered but not in their full complexity: a newspaper content analysis of ethical issues in predictive genetic testing
Presentation Number: P21.07B

Heidi Marjonen
(Helsiniki, Finland)

SEC31A mutation affects ER homeostasis, causing neurological syndrome
Presentation Number: P11.68D

Daniel Halperin
(Beer-Sheva, Israel)

Genomics as a personalized medicine approach in disease risk prediction - FinHealth
Presentation Number: P15.39B

Alba Sanchis-Juan
(Cambridge, United Kingdom)

Comprehensive rare variant analysis of individuals with neurodevelopmental disorders by whole-genome sequencing
Presentation Number: P09.126A

Pauline Schneeberger
(Hamburg, Germany)

Gain-of-function mutations in KCNN3 encoding the small-conductance Ca2+-activated K+ channel SK3 cause Zimmermann-Laband syndrome
Presentation Number: P13.13A


European Human Genetics Conference 2018

Young Investigator Awards for Outstanding Science
Dylan de Vries
(Groningen, The Netherlands)
Personalized co-expression networks reveal genetic risk factors that change the regulatory wiring of cells
Presentation Number: C04.3
Ilaria Parenti 
(Lübeck, Germany)
Novel gene and pathomechanism in Cornelia de Lange syndrome
Presentation Number: C15.2
Shruti Singla
(Cambridge, United Kingdom)
Elimination of aneuploid cells in the early mammalian embryo
Presentation Number: PL2.3
Laura Vandervore
(Brussels, Belgium)
Rotatin mutations impair bipolar mitotic spindle formation leading to a wide spectrum of brain malformations
Presentation Number: C17.2

Isabelle Oberlé Award
Sara Reynhout
(Leuven, Belgium)

De novo mutations affecting PPP2CA, encoding the catalytic C? subunit of PP2A, cause PP2A dysfunction and a neurodevelopmental disorder
Presentation Number: C20.3

Lodewijk Sandkuijl Award
Eleonora Porcu
(Lausanne, Switzerland)
Mendelian randomization combining GWAS and eQTL data reveals new loci, extensive pleiotropy and genetic determinants of complex and clinical traits
Presentation Number: C21.2

Vienna Medical Academy Award
John McDermott
(Manchester, United Kingdom)
Neurocalcin delta as a novel protective modifier for spinal muscular atrophy: A full story from gene identification to therapy
Presentation Number: C08.2

EMPAG Young Investigator Award
Julia el Mecky
(Groningen, The Netherlands)
Disclosure of incidental findings (IFs) and variants of uncertain significance (VUS) to patients: what happens in practice?
Presentation Number: EPL5.5

ESHG Poster Awards
Christina Paliou
(Berlin, Germany)
A CTCF- dependent chromatin interaction ensures robust enhancer - promoter communication at the Shh locus
Presentation Number: P17.58B (Best Poster in Basic Research)
Luiza Garrido
(Porto, Portugal)
Genetic counselling in hereditary diffuse gastric cancer: economical and psycho-social impact
Presentation Number: P19.24D (Best Poster in Clinical Research)

Poster Award Finalists
Vincent Gatinois
(Montpellier, France)

Pathologies of helicases and premature ageing: study by derivation of induced pluripotent stem cells
Presentation Number: P12.099C

Alexander Kurilshikov
(Groningen, The Netherlands)

MiBioGen: a new consortium for meta-analysis of human genome-microbiome association
Presentation Number:P16.33A

Ana Rita Marques
(Lisbon, Portugal)

miRNA and lncRNA gene variants in Autism Spectrum Disorder
Presentation Number:P09.022B

Mauro Pala
(Cagliari, Italy)

The eQTLs Catalog and LinDA browser: a platform for prioritising target genes of GWAS variants
Presentation Number:P18.25A

Elke van Veen
(Manchester, United Kingdom)

Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer
Presentation Number:P12.076D

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
(Hinxton, United Kingdom)


De novo mutations in regulatory elements cause neurodevelopmental disorders
Presentation Number: C02.6

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
(Mainz, Germany)

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 
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
Genetic and functional comparison of identical germline and somatic SETBP1 mutations
Presentation Number: C12.6
Martin Mensah
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
Presentation Number: C15.2

Lodewijk Sandkuijl Award
Sina Rüeger
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
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
(Doha, Qatar)

Unravelling human complex traits: the case of hearing function and age related hearing loss
Presentation Number: P02.09A
Maarten Massink
Loss-of-Function mutations in the WNT co-receptor LRP6 cause autosomal-dominant oligodontia
Presentation Number: P04.070B

Poster Award Finalists
Mattia Bosio

GEUVADIS European Exome Variant Server: Variant allele frequency aggregation from multicentre, access-restricted data

Tim Van Damme

Mutations in the E subunit of the vacuolar ATPase complex cause a novel type of autosomal recessive cutis laxa

Omar Soukarieh

Functional assays and bioinformatics predictions reveal a high contribution of splicing mutations in the most frequent forms of hereditary cancer

Eva De Vilder

Rare modifier variants alter the severity of cardiovascular disease in Pseudoxanthoma Elasticum

Lara Rodriguez Laguna

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
Recessive mutations in matrix metallopeptidase 21 (MMP21) cause heterotaxy in humans
Presentation Number: C05.5
Darío Lupiáñez
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions
Presentation Number: PL2.4
Emma Baple
Homozygous truncating mutations in WDR73 cause a severe nephrocerebellar syndrome, part of the Galloway Mowat syndrome spectrum
Presentation Number: C23.4
Julie Rutten
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
Presentation Number: C03.2

Lodewijk Sandkuijl Award
Peter Joshi
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
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
High yield of causative mutations by whole exome sequencing in selected individuals with childhood cancer
Presentation Number: C09.4

ESHG Poster Awards
Caroline Biagosch
Fast and effective genome editing to study dominant de novo mutations: the WDR45 example
Presentation Number: PM08.70
Sanne D'hondt
Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development
Presentation Number: P04.76

Poster Award Finalists
Letizia Straniero
The plant cytokine kinetin as a potential therapeutic agent to correct CFTR splicing defects
Presentation Number: PM15.20
Caroline Van Cauwenbergh
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
Impaired mitochondrial RNA processing in HSD10 disease
Presentation Number: PM06.22
Delfien Syx
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis
Presentation Number: PS04.23
Eliška Holzerová
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
Polygenic risk score analysis shows shared genetic aetiology between AN and five other psychiatric disorders
Presentation Number: C11.2
Danit Oz-Levi
Deletion of a distant-acting enhancer near C16ORF91 underlies recessive congenital diarrhea
Presentation Number: C17.4
Marije Meuwissen
Interferon type 1 response regulator USP18 is mutated in severe pseudo-TORCH syndrome
Presentation Number: C15.4
Sofie Symoens
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
Presentation Number: PL2.6

Lodewijk Sandkuijl Award
Jessica van Setten
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
Clinical implementation of non-invasive prenatal aneuploidy detection
Presentation Number: C01.1

ESHG Poster Awards
Loredana Poeta
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
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
New genetic abnormalities underlying chronic intestinal pseudo-obstruction (CIPO)
Presentation Number: P03.12
Julien Thevenon
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
NR2F1 mutations cause optic atrophy with intellectual disability
Presentation Number: P08.18
Sumitra Mohan
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
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
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
Ion transporter deficiency predisposes to pyogenic bacterial infection by partial oxidative burst defect in granulocytes
Presentation Number: C14.6
Alessia Indrieri
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
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
Presentation Number: C20.

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
Detection of clinically relevant copy number variants with whole exome sequencing
Presentation Number: C15.6

ESHG Poster Awards
Sandrina Turczynski
Antisense mediated exon skipping gene therapy for dystrophic epidermolysis bullosa
Presentation Number: P01.117
Jamal Ghoumid
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome
Presentation Number: P02.100

Poster Award Finalists
Pauline Krug
Targeted “ciliome” sequencing for gene identification in nephronophthisis and associated ciliopathies
Presentation Number: P13.57
Tessel Rigter
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
Antisense oligonucleotide-mediated exon skipping to treat 10% of Leber congenital amaurosis cases
Presentation Number: P03.36
Siew-Kee Low
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
Presentation Number: C03.1

Nady El Hajj

Metabolic reprogramming of the epigenome by intrauterine exposure to gestational diabetes
Presentation Number: C16.5

Hélène Louis dit Picard

KLHL3 and Cullin-3 mutations cause Familial Hyperkalemic Hypertension by impairing ion transport in the distal nephron
Presentation Number: PL2.2

Cédric Howald

The ENCODE effort combining RNA-seq and RT-PCR-seq allows to catalog thousands of novel lncRNAs
Presentation Number: C08.1

Isabelle Oberlé Award

Marjolein H. Willemsen

Identification and characterization of genetic disorders with ID in diagnostics and diagnostic related research
Presentation Number: C15.1

Lodewijk Sandkuijl Award

Lars G. Fritsche

Seven New Loci Associated with Age-Related Macular Degeneration
Presentation Number: C14.2

Vienna Medical Academy Award


Lutz Garbes

SMA patients show concordant responses to valproic acid from blood to neurons while nonresponsivness is facilitated by CD36
Presentation Number: C01.6

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
The atypical Rett-syndrome protein CDKL5 promotes excitatory synapse formation by strengthening the interaction between NGL-1 and the postsynaptic scaffold protein PSD95
Daria Witt
Valproic acid achieves its anticancer activity by re-expression of cyclin D2
Walter Pulverer (Vienna) Exploring the methylome of thyroid cancer at single C resolution: From screening to clinical diagnostics
M.Reza R. Sailani (Geneva) Identifying genetic determinants of congenital heart defect in Down syndrome

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
Presentation Number: C01.4

Marjolijn Jongmans

Revertant somatic mosaicism in Dyskeratosis Congenita by mitotic recombination
Presentation Number: C04.5

Jovana Serbanovic-Canic

Functional validation of GWAS loci for platelet traits in Danio rerio reveals new regulators of haematopoiesis
Presentation Number: C16.6

Heleen Arts

Sensenbrenner syndrome is caused by dysfunctional IFT-A mediated retrograde transport in the cilium
Presentation Number: C11.5

Isabelle Oberlé Award

Audrey Letourneau

mRNA-Seq analysis of monozygotic twins discordant for Trisomy 21 reveals large chromosomal domains of gene expression dysregulation
Presentation Number: PL2.3

Lodewijk Sandkuijl Award

Mark McCormack

HLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans
Presentation Number: PL2.6

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
Identification and characterization of a novel inborn error of metabolism caused by Dihydrofolate reductase deficiency
Giorgia Girotto
A genome-wide association study in European isolated populations identifies new loci and pathways for hearing function, thresholds and age-related loss
Flore Zufferey
Reciprocal extreme BMI phenotypes associated with gene dosage at the 16p11.2 locus
Joana Carvalho
MicroRNA-101 modulates E-cadherin expression and function through EZH2 up-regulation in gastric cancer

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
Session: C10 Statistical / Genetic Epidemiology

Shushant Jain
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
Session: C03 Complex Diseases

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
The Effect of Translocation-Induced Nuclear Re-organization on Gene Expression
Eva Klopocki
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
Methylation profiling in cases with uniparental disomy identifies novel imprinted genes on chromosome 15
Isabelle Oberlé Award
Sergio Sousa
Nicolaides-Baraitser Syndrome - Delineation of the Phenotype
Lodewijk Sandkuijl Award
Alexandra Zhernakova
The common and specific genetic backgrounds of rheumatoid arthritis and celiac disease
ESHG Poster Awards
V. M. Kalscheuer
Towards understanding the pathogenetic mechanism of PQBP1 mutations in X-linked mental retardation
S. Manouvrier-Hanu
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
Polycomb complex shapes the higher order of D4Z4 chromatin structure during differentiation of normal and FSHD muscle stem cells
Sandra Pasternack
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
Annie Rebibo Sabbah
Evaluating suppression of nonsense mutations by aminoglycoside antibiotics as an intervention for vision loss in type I Usher syndrome
Serena Sanna
Genome-wide association scan for serum TSH levels in 2375 Sardinians

Isabelle Oberlé Award
Florence Molinari
Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation

Lodewijk Sandkuijl Award
Erika Salvi
Comparison of different methods to estimate genetic ancestry and control for stratification in genome-wide association studies

ESHG Poster Awards
Imke Christiaans
The yield of cascade screening and risk stratification for sudden cardiac death in hypertrophic cardiomyopathy MYBPC3 gene mutation carriers
Ana Isabel Vega
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
Prenyldiphosphate synthase PDSS1 and OH-benzoate prenyltransferase COQ2 mutations in ubiquinin deficiency and oxidative phosphorylation disorders
Zrinka Biloglav
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
Nonsense-mediated mRNA decay regulates response of cystic fibrosis patients to gentamycin
Emma N. Hilton
Left-sided embryonic expression of the BCL-6 corepressor BCOR, is required for vertebrate laterality determination
Dagan Jenkins
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
The cohesion protein NIPBL recruits histone deacetylases to mediate chromatin remodelling
Lodewijk Sandkuijl Award
Vincent Plagnol
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
Life without sulfatases: exploiting a mouse model of multiple sulfatase deficiency
Vladimir V. Strelnikov
Identification of methylation and expression abnormalities associated with breast cancer
Anne Fechter
Targeted cloning of fragile sites - based on a previous tagging of fragile regions in a breast cancer cell line
Ursula M. Smith
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome
Isabelle Oberlé Award
Tjitske Kleefstra
Haploinsufficiency of the Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) gene causes the 9q subtelomeric deletion syndrome.
Lodewijk Sandkuijl Award
Samuel Deutsch
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
Chromosome 6p22 risk haplotype for dyslexia is associated with a reduced expression of KIAA0319 gene
William J. Tapper
The first genome wide linkage disequilibrium map
Aida I. Al-Aqeel
Ethics and Genetics: An Islamic Perspective

Isabelle Oberlé Award
Bartlomiej Budny
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
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
Mutations in the human TBX4 gene cause small patella syndrome
Hilde Peeters
PA26 is a candidate gene for human heterotaxia
Aurora Pujol
Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-linked adrenoleukodystrophy
Nitin Sabherwal
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
Expression profiling of Wilms tumors reveals novel prognostic markers

Isabelle Oberlé Award
Gajja Salomons
High prevalence of SLC6A8 deficiency, a novel X-linked mental retardation syndrome

Lodewijk Sandkuijl Award
Manuel A. R. Ferreira
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
Mutations of EDA, EDARADD and TRAF6 genes in anhidrotic ectodermal dysplasia genotype/phenotype correlation.
Michel De Vos
PMS2 mutation as a cause of primitive neuroectodermal tumours of childhood
Martine J. van Belzen
A major non-HLA locus in coeliac disease maps to chromosome 19

Isabelle Oberlé Award
Joris A. Veltman
High resolution whole genome microdeletion screening by array CGH

European Human Genetics Conference 2002

Young Investigator Awards for outstanding science 
John Common 
Genetic and functional analysis of connexins in skin disease and deafness
Heymut Omran 
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry
Richard Redon
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
Mutation in Neurotrypsin is responsible for autosomal recessive non-specific mental retardation