Live Sessions
Please note that all times below refer to Central European Summer Time
10:00 – 11:30 hrs | Concurrent Sessions C15-C21 from submitted abstracts
Moderators: Elfride De Baere, Maris Laan
C15.2 Evaluating positive and negative predictive values of expanded carrier screening: lessons learned from the ciliopathies
E. Vintschger, P. Joset, D. Kraemer, A. Rauch, Ruxandra Bachmann-Gagescu;
Zürich, Switzerland
C15.3 The Bardet-Biedl protein Bbs1 control protein and lipid composition of zebrafish photoreceptor outer segments
Markus Masek*, C. Etard, C. Hoffmann, A. Hülsmeier, T. Hornemann, U. Strähle, R. Bachmann-Gagescu;
Zurich, Switzerland
C15.4 Beyond syndromic optic atrophy: expanding the ocular phenotype caused by biallelicvariants in FDXR and reporting retinal dystrophy as a novel feature
Neringa Jurkute*, P.D. Shanmugarajah, M. Hadjivassiliou, J. Higgs, M. Vojcic, I. Horrocks, Y. Nadjar, V. Touitou, G. Lenaers, J. Acheson, A.G. Robson, F.L. Raymond, M.M. Reilly, Genomics England Research Consortium, P. Yu-Wai-Man, A.T. Moore, A.R. Webster, G. Arno;
London, United Kingdom
C15.5 A Mouse Model of Brittle Cornea Syndrome caused by mutation in Zfp469
Chloe M. Stanton, A. Findlay, C. Drake, Z. Mustafa, V. Vitart;
Edinburgh, United Kingdom
C15.6 Whole exome sequencing reveals a monogenic cause in 57% of individuals with laterality disorders and associated congenital heart defects
Y. Bolkier, O. Barel, D. Marek-Yagel, D. Atias-Varon, M. Kagan, A. Vardi, D. Mishali, U. Katz, Y. Salem, T. Tirosh, J.M. Jacobson, A. Raas-Rothschild, Y. Sarouf, O. Shlomovitz, A. Veber, N. Shalva, Y. Ben Moshe, O. Staretz-Chacham, G. Rechavi, S.M. Mane, Y. Anikster, A. Vivante, Ben Pode-Shakked;
Ramat-Gan, Israel
Moderators: Zeynep Tümer, Christian Schaaf
C16.1 Pathogenic variants in SMARCA5, a chromatin remodeler, cause a syndromic neurodevelopmental disorder
Dong Li, Q. Wang, N. Gong, A. Kurolap, H. Baris Feldman, N. Boy, M. Brugger, K. Grand, K. McWalter, M. Guillen Sacoto, E. Wakeling, M. Nowaczyk, C. Gonzaga-Jauregui, M. Mathew, Y. Huang, T. Brunet, D. Choukair, D. Brown, T. Grebe, D. Tiosano, M. Kayser, T. Tan, M. Deardorff, Y. Song, H. Hakonarson;
Philadelphia, United States
C16.2 Biallelic TTI1 pathogenic variants cause a microcephalic neurodevelopmental disorder
M. Serey-Gaut, G.K. Essien-Umanah, P. Makrythanasis, M. Suri, A.M. Taylor, J. Sullivan, V. Shashi, X. Song, J.A. Rosenfeld, C. Cabrol, D. Pehlivan, Z. Coban Akdemir, B.B. Geckinli, J. Eason, R. Sachdev, C. Evans, M. Buckley, C. Nixon, J. Piard, T. Roscioli, J.R. Lupski, S.E. Antonarakis, V. Dawson, T. Dawson, Lionel Van Maldergem;
Besancon, France
C16.3 Monoallelic variants in TFAP2E cause central nervous system and craniofacial anomalies
Jeshurun C. Kalanithy*, G.C. Dworschak, J.A. Rosenfeld, E. Mingardo, J.D. Stegmann, A.C. Hilger, W. Tan, S.A. Coury, A.C. Woerner, J. Sebastian, P.A. Levy, A. Becker, T.T. Lindenberg, Ö. Yilmaz, H. Thiele, J.E. Posey, J.R. Lupski, W.M. Merz, B. Odermatt, H. Reutter;
Bonn, Germany
C16.4 Biallelic TRAPPC10 variants are associated with a microcephalic TRAPPopathy disorder in humans and mice
Lettie E. Rawlins*, H. Almousa, S. Khan, S.C. Collins, M.P. Milev, J.S. Leslie, D. Saint-Dic, A.M. Hincapie, G.V. Harlalka, V.E. Vancollie, C.J. Lelliott, A. Gul, B. Yalcin, A.H. Crosby, M. Sacher, E.L. Baple;
Exeter, United Kingdom
C16.5 A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Lot Snijders Blok, J. Verseput, D. Rots, H. Venselaar, A. M. Innes, C. Stumpel, K. Ounap, K. Reinson, E. G. Seaby, S. McKee, B. Burton, J. M. van Hagen, Q. Waisfisz, P. Joset, K. Steindl, A. Rauch, D. Li, E. Zackai, S. Sheppard, B. Keena, H. Hakonarson, A. Roos, N. Kohlschmidt, A. Cereda, M. Iascone, E. Rebessi, K.D. Kernohan, P M. Campeau, F. Millan, J. A. Taylor, B. Bernhard, S. E. Fisher, H. G. Brunner, T. Kleefstra;
Nijmegen, Netherlands
C16.6 Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Irene de la Calle, E. Verdura, A. Rodríguez-Palmero, V. Vélez-Santamaria, L. Planas-Serra, M. Benkirane, F. Saettini, L. Pavinato, M. O’Learly, E. Barredo, V. Michaud, D.R. Adams, C. Casasnovas, H.C. Mefford, L. González Gutiérrez-Solana, A. Brusco, M. Koenig, A. Macaya, A. Pujol;
Barcelona, Spain
Moderators: Zoltan Kutalik, Karoline Kuchenbäcker
C17.1 Estimation of penetrance for known gene-phenotype relationships using large-scale exome sequencing data in 394K UK Biobank participants
Abhishek Nag, A. Harper, Q. Wang, S. Cameron-Christie, K. Carss, S. Petrovski;
Cambridge, United Kingdom
C17.2 Public health impact of genetic variants
Sakari Jukarainen*, T. Kiiskinen, J. Karjalainen, S. Rüeger, M. Cordioli, H.M. Ollila, M. Pirinen, A. Ganna;
Helsinki, Finland
C17.3 Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome
Eleonora Porcu, M.C. Sadler, K. Lepik, C. Auwerx, A.R. Wood, A. Weihs, D.M. Ribeiro, S. Bandinelli, T. Tanaka, M. Nauck, U. Volker, O. Delaneau, A. Metspalu, A. Teumer, T. Frayling, F.A. Santoni, A. Reymond, Z. Kutalik;
Lausanne, Switzerland
C17.4 The penetrance of age-dependent monogenic disease variants depends on ascertainment context
U.L. Mirshahi, K. Colclough, C. Wright, T. Laver, R. Stahl, A. Golden, J. Goehringer, A.T. Hattersley, D.J. Carey, M. Weedon, Kashyap A. Patel;
Exeter, United Kingdom
C17.5 Genetic and environmental determinants of drug adherence and drug purchasing behaviour.
Mattia Cordioli*, S. Jukarainen, T. Kiiskinen, S. Ripatti, A. Ganna;
Helsinki, Finland
C17.6 Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank.
Edmund H. Gilbert*, G.L. Cavalleri;
Dublin, Ireland
Moderators: Hana Lango Allen, Alexandre Reymond
C18.1 An epigenome-wide view of osteoarthritis in primary tissues
Peter Kreitmaier, M. Suderman, L. Southam, R. Coutinho de Almeida, K. Hatzikotoulas, I. Meulenbelt, J. Steinberg, C. Relton, J.M. Wilkinson, E. Zeggini;
Neuherberg, Germany
C18.2 Dynamics of gene regulatory organization in longitudinal twin RNA-seq data
Anna Ramisch*, J.S. El-Sayed Moustafa, D. Ribeiro, G. Leday, Y. Jiao, G. Nicholson, M. Stevens, M. Abdalla, C. Menni, A. Viñuela, C. Holmes, T.D. Spector, M.I. McCarthy, S. Richardson, O. Delaneau, E.D. Dermitzakis;
Geneva, Switzerland
C18.3 Repeated genomic elements characterization at the single-cell level along normal brain development
Marie Coutelier, S. Jessa, N. Kabir, S. Hébert, D. Faury, N. Jabado, C.L. Kleinman;
Montreal, Canada
C18.4 A global map of the impact of deletion of post-translational modification sites in genetic diseases
Pablo Mínguez*, P. Vellosillo;
Madrid, Spain
C18.5 Transcriptome profiling using long-read sequence to dissect the interplay between genetic variant and transcript variations
Aline Réal, C. Borel, A. Ramisch, N. Lykoskoufis, J. Seebach, E. Dermitzakis;
Geneva, Switzerland
C18.6 Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells
Foad J. Rouhani, X. Zou, P. Danecek, T. Dias Amarante, G. Koh, Q. Wu, Y. Memari, R. Durbin, I. Martincorena, A.R. Bassett, D. Gaffney, S. Nik-Zainal;
Cambridge, United Kingdom
Moderators: Celine Lewis, Ramona Moldovan
C19.1 Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: A mixed methods study
Michelle Peter, J. Hammond, S.C. Sanderson, J. Gurasashvili, A. Hunter, B. Searle, C. Patch, L.S. Chitty, M. Hill, C. Lewis;
London, United Kingdom
C19.2 Changing a single word in prenatal microarray agreement form significantly decreases the rate of reported variants of questionable significance.
Lena Sagi-Dain, M. Echar, A. Harari-Shaham, S. Polager-Modan, R. Zaatry, O. Krivoruk, J. Haddad-Halloun, A. Peleg;
Haifa, Israel
C19.3 Healthcare professionals’ views about responsibility in the sharing of genetic information to patients’ relatives
Álvaro Mendes, M. Paneque, J. Sequeiros;
Porto, Portugal
C19.4 The impact of the GDPR on genomic medicine and research
Colin Mitchell*, J. Ordish, E. Johnson, T. Brigden, A. Hall;
Cambridge, United Kingdom
C19.5 Loosening the purse strings: Influencing public funders about the value of genomic testing for intellectual disability
Deborah Schofield, O. Tan, R. Shrestha, S. West, J. Boyle, L. Christie, N. Hart, K. Lim, M. Leffler, L. Murray, R. Rajkumar, M. Rice, R. Tanton, J. Li, T. Roscioli, M. Field;
North Ryde, Australia
C19.6 Genomics in society: Engaging children in dialogue about human germline editing
Frances Borneman, B. Vijlbrief, D. Houtman, V. Buijs, S. Riedijk;
Rotterdam, Netherlands
Moderators: Carla Oliveira, Serena Nik-Zainal
C20.1 Decrypting the breast cancer cellular complexity by single-cell transcriptomics of tumor-derived organoids
Paride Pelucchi, E. Mosca, C. Cocola, E. Piscitelli, N. Di Nanni, E. Abeni, I. Cifola, V. Nale, F.A. Cupaioli, T. Karnavas, A. Gritzapis, I. Missitzis, M. Götte, M. Palizban, B. Greve, G. Bertalot, A. Mezzelani, L. Milanesi, R.A. Reinbold, I. Zucchi;
Segrate, Italy
C20.2 Identifying and characterizing EZH2 as a druggable dependency factor for desmoid tumors in a genetic Xenopus tropicalis model for Gardner’s Syndrome
T. Naert, Dieter Tulkens*, T. Van Nieuwenhuysen, J. Przybyl, S. Demuynck, M. Al-Jazrawe, M. van de Rijn, B. Alman, K. De Leenheer, P. Coucke, D. Creytens, K. Vleminckx;
Ghent, Belgium
C20.3 Neuroblastoma somatic mutations enriched in cis-regulatory elements collectively affect genes involved in embryonic development and immune system response
Vito Alessandro Lasorsa*, S. Cantalupo, C. de Torres, S. Aveic, G. Tonini, A. Iolascon, M. Capasso;
Napoli, Italy
C20.4 Investigation of tumor suppressor gene loss on chromosome 8p in hepatocellular carcinoma using chromosome editing
Thorben Huth*, E.C. Dreher, S. Luiken, R.N. Sugiyanto, A. Jauch, P. Schirmacher, S. Roessler;
Heidelberg, Germany
C20.5 tRNASer overexpression induces adaptive mutations in NSCLC tumors
Mafalda R. Santos*, M. Pinheiro, A. Reis, A. André, S. Rocha, J. Carvalho, M.A.S. Santos, C. Oliveira;
Porto, Portugal
C20.6 Characterization of fusion-circRNAs in childhood acute lymphoblastic leukemia: f-circMLL-AF4
Angela Gutierrez-Camino, C. Richer, L. Poncelet, C. Fuchs, A. Bataille, D. Sinnett;
Montreal, Canada
Moderators: Elisa Giogio, Aurora Pujol
C21.1 Hypermorphic heterozygous variants in the tyrosine kinase ZAP-70 underlie autoimmune disease
Caspar I. van der Made, R.L. Smeets, J. Potjewijd, A. Simons, E.E. Vorsteveld, J.H.M. Schuurs-Hoeijmakers, S.A. De Munnik, M. Vreeburg, H.J.P.M. Koenen, M.G. Netea, G.T.J. van Well, F.L. van de Veerdonk, A. Hoischen;
Nijmegen, Netherlands
C21.2 Gene therapy in a novel large animal model of Stargardt disease
Eugenio N. Pugni*, M. Lupo, C. Iodice, C. Gesualdo, S. Rossi, F. Simonelli, M.L. Bacci, C. Galli, A. Auricchio, I. Trapani;
Pozzuoli, Italy
C21.3 Tasimelteon Safely and Effectively Improves Sleep in Smith Magenis Syndrome: a Double-Blind Randomized Trial Followed by an Open-Label Extension
Christos Polymeropoulos;
Washington DC, United States
C21.4 Attenuation of dysfunctional DNA damage response and PARP1 signaling by minocycline reduces ectopic calcification in pseudoxanthoma elasticum
Lukas Nollet*, M. Van Gils, A. Willaert, P.J. Coucke, O.M. Vanakker;
Ghent, Belgium
C21.5 New uses for old drugs: Added value of celiprolol and pravastatin in vascular EDS
Nicolo Dubacher*, S.M. Caspar, J. Meienberg, G. Matyas;
Schlieren-Zurich, Switzerland
C21.6 Increased CHIP prevalence amongst people living with HIV
Konstantin Popadin, A.G. Bick, C.W. Thorball, M. Uddin, M. Zanni, B. Yu, M. Cavassini, A. Rauch, P. Tarr, P. Schmid, E. Bernasconi, H.F. Günthard, P. Libby, E. Boerwinkle, P.J. McLaren, C.M. Ballantyne, S. Grinspoon, P. Natarajan, J. Fellay;
Lausanne, Switzerland
11:30 – 12:00 hrs | Break
12:00 – 13:00 hrs | Plenary Session PL3
Moderators: Alexandre Reymond, Ramona Moldovan
PL3.1 Psychological aspects of genetic risk and genetic testing revisited
Gerry Evers-Kiebooms;
Belgium
12:00 – 13:00 hrs | Educational Session E02
Moderators: Celia Azevedo Soares, Juliana Cerqueira, Ruta Marcinkute, Florence Riccardi
E02.1 Human stem cells-based organoids for personalized disease modelling in human genetics
Hans Clevers;
The Netherlands
E02.2 Modeling human lung development and disease using hPSC-derived organoids
Hans-Willem Snoeck;
Untited States
12:00 – 13:00 hrs | Corporate Satellites
13:00 – 13:45 hrs | e-Poster Viewing with Authors (Group C)
13:45 – 14:00 hrs | Break
14:00 – 15:00 hrs | Workshops W07-W11
Workshop Organisers: Gunnar Houge, Heidi Rehm
Additional speakers: Leslie Biesecker & Steven Harrison
About the workshop:
In 2015, the American College of Medical Genetics and Genomics (ACMG), in collaboration with the Association for Molecular Pathology (AMP) published detailed standards for evaluating evidence and classifying variants according to pathogenicity for Mendelian disease and standardized the terms for classification. These standards are now routinely used by both the clinical and research communities. However, aspects of the standards are still challenging to apply and differences in variant classification can occur even when using the same standard. To address these issues, the Sequencing Variant Interpretation working group of the Clinical Genome Resource (ClinGen) has been working to evolve the standards, providing additional guidance on the application of individual evidence criteria, as well as guiding ClinGen’s Variant Curation Expert Panels that develop disease-specific specifications for sets of gene. Resources can be found here:
https://clinicalgenome.org/working-groups/sequence-variant-interpretation/
ACMG has now convened a new committee, adding ClinGen as a third contributing organization, to publish the next set of standards for variant classification. Anticipated to be released in 2022, the committee has been hard at work developing the new framework. Leslie Biesecker and Steven Harrison, co-chairs of the new ACMG/ClinGen/AMP committee, will give a preview of the modifications anticipated in the new guideline and will give attendees the opportunity to provide feedback on the draft framework through audience poll questions and open discussion.
In addition, Gunnar Houge will also solicit feedback through audience poll questions on the work of an ad hoc working group in ESHG (Johan den Dunnen, Andreas Laner, Sebahattin Cirak, Nicole de Leeuw, Hans Scheffer and Gunnar Houge) that proposed a stepwise ABC system for classification of any type of genetic variant, with a molecular (A), clinical (B) and standard comment (C ) arm, that can be an add-on or alternative to the 2015 ACMG/AMP guideline. This system can be found here:
https://www.eshg.org/index.php?id=949
Workshop Organisers: Jill Clayton-Smith, Sofia Douzgou
About the workshop:
We invite all those working in the field of syndrome diagnosis, and those who wish to learn more about the art and science of Dysmorphology, to attend this session. In view of this year’s virtual ESHG format please participate by e-mailing short PowerPoint presentations (see specifications below) of your distinctive unsolved cases or your instructive solved cases until May 1, 2021 to:
sofia.douzgou.houge@helse-bergen.no
If you require an nhs.net e-mail address please e-mail to: jillclayton-smith@nhs.net
We will select 6 cases that will be presented for discussion ‘live’ during the online workshop. Even if you do not have cases to bring, we also encourage workshop attendees to share their knowledge of dysmorphology and broader genetic mechanisms by participation in the case discussions via the chat. As we move further into the genomic era we anticipate more discussion around variant interpretation and so we would also welcome experts in this area to join us.
We also welcome “solved” cases that you may have presented as unknowns at the ESHG in previous years, but where you now have an answer. These are very interesting and instructive for the audience.
Presentation Format:
Presentations should include no more than 6 slides and you should aim to present your case in 3 minutes, leaving some time for discussion. Slides should cover the main points of the history, include good quality clinical photos of the most distinctive features and give results of investigations undertaken. Although we do not necessarily expect every patient to have had whole genome or exome sequencing, cases must have undergone a reasonable diagnostic workup before presentation and permission should have been sought from patients/parents for presentation.
We look forward to seeing you!
Workshop Organisers: Tara Clancy, Mike Parker
About the workshop:
An awareness of the ethical aspects of genomics and its implementation in health care is essential for trainee and experienced clinicians, scientists and researchers. The UK’s Genethics Forum (established in 2000) helps genomic professionals identify and discuss ethical issues in their practice, develop their skills in resolving these and contribute to the improvement of ethical decision-making by sharing good practice.
Detailed programme:
14:00-14:03
Introduction
Tara Clancy
14:04-14:16
Why and how to discuss ethical issues with patients, families and colleagues
Tara Clancy
14:16-14:28
A review of the cases discussed at the Genethics Forum and their effect on practice and guidelines
Mike Parker
14:28-14:40
Reflections on attending the Genethics Forum and its implementation in the Netherlands
Irene van Langen
14:40-14:55
Panel discussion with speakers, Q&A from the audience
14:55-15:00
Closing
Tara Clancy
Workshop Organisers: Michal Szpak
About the workshop:
Genetic variation between individuals results in a range of human phenotypes, from differences in the immune response against transmissible diseases, such as COVID-19, to rare developmental disorders. Understanding the effect of genetic variants upon genes associated with phenotypes is underpinned by a high quality geneset. The Ensembl/GENCODE geneset contains expert annotation of evidence based transcripts. The annotation of clinically important genes is prioritised as part of the MANE project (Matched Annotation from NCBI and EMBL-EBI) where MANE Select transcripts and additional MANE Plus Clinical transcripts are agreed with the RefSeq team to provide a resource for variant reporting. Additionally, we have updated the annotation of ~300 human genes associated with SARS-CoV-2 infection, such as ACE2, to improve annotation of alternative promoter usage and splicing.
The Ensembl Variant Effect Predictor (VEP) toolset allows fast and flexible annotation of genetic variants to predict functional consequences in the context of the Ensembl/GENCODE geneset, allowing further variant filtering, prioritisation and reporting using the MANE Select and MANE Plus Clinical transcript sets.
This workshop will guide you through the Ensembl/GENCODE and MANE annotation process, allowing you to experience the challenges involved in annotation and transcript selection. You will also learn how to use the Ensembl VEP to map genetic variants onto Ensembl/GENCODE transcripts and other Ensembl annotation including regulatory regions and regions of evolutionary conservation to determine their likely functional effects and filter to prioritise variants.
In order to follow along the hands-on aspects of this workshop, including exploring online databases and exercises, you will need to bring a laptop to this session. Workshop materials, including slides, demonstration screenshots, exercises, sample files and solutions will be made available before the workshop and will remain permanently online at the Ensembl training portal: https://training.ensembl.org
Workshop speakers:
Michal Szpak
Adam Frankish
Jonathan Mudge
Anja Thormann
Diana Lemos
Helen Schuilenburg
Aleena Mushtaq
Workshop Organisers: Martina Cornel, Carla van El
About the workshop:
Gene editing has stirred hope for finding cures for serious genetic disorders. As for germline gene editing, ESHG stated that it is premature, many countries prohibit research, there is international support for a moratorium, and global initiatives for guidance development and public debate have been initiated. On the other hand, for somatic gene editing animal experiments and human trials show excellent results. In this workshop we discuss the state of the art and prospects for human germline gene editing and somatic editing. For which disorders cures are becoming conceivable? What technical challenges and ELSI issues lie ahead?
Programme:
14:00- 14:03
Introduction
Martina Cornel, The Netherlands
14:03-14:18
The status of the international debate on Germline Gene Editing
Michelle Ramsay, South Africa
14:18-14:33
Somatic gene editing
Kirmo Wartiovaara, Finland
14:33-14:48
Editing haemoglobin disorders
Selim Corbacioglu, Germany
14:48-15:00
Discussion & Closure
Martina Cornel, The Netherlands
15:00 – 15:30 hrs | Break
15:30 – 16:30 hrs | Corporate Satellites
16:30 – 17:00 hrs | Break
17:00 – 18:15 hrs | Concurrent Symposia S13-S17
Moderators: Lars Feuk, Christian Gilissen
S14.1 Unraveling the sequence of the centromere
Karen Miga;
United States
S14.2 De novo assembly of human genomes
Adam Ameur;
Sweden
S14.3 Genome architecture and disease
Evan Eichler;
United States
Moderators: Matias Simons, Carla Oliveira
S15.1 Cell competition: mechanisms and implications for health and disease
Eugenia Piddini;
United Kingdom
S15.2 Quantitative and dynamic aspects of cell competition
Miguel Torres;
Spain
S15.3 Cell heterogeneity in normal human development
Thierry Voet;
Belgium
Moderators: Alexandre Reymond, Jeffrey Kidd
S16.1 Global genetics towards a socially just practice: a view from North America
Charmaine Royal;
United States
S16.2 Global genetics towards a socially just practice: a view from Asia
Kazuto Kato;
Japan
S16.3 Global genetics towards a socially just practice: a view from Africa
Jantina de Vries;
South Africa
S16.4 Global genetics towards a socially just practice: a view from Europe
Barbara Prainsack;
Austria
Moderators: Zoltan Kutalik, Karoline Kuchenbäcker
S17.1 Biases in GWAS and where to find them: detecting and accounting for biases in GWAS studies beyond population structure
Nicola Pirastu;
United Kingdom
S17.2 Estimating direct and indirect genetic effects on birth weight
Nicole Warrington;
Australia
S17.3 The nature of nurture
Patrick Turley;
United States
Moderators: Valerie Cormier-Daire, Yasemin Alanay
S18.1 Approach to overgrowth syndrome in the genome era
Kate Tatton-Brown;
United Kingdom
S18.2 Epigenetic signatures in overgrowth syndrome
Rosanna Weksberg;
Canada
S18.3 Regional overgrowth
Leslie Biesecker;
United States
18:15 – 18:45 hrs | Break
18:45 – 19:45 hrs| Meet the speakers of Educational Sessions E03-E11
18:45 – 19:45 hrs | Corporate Satellites
19:45 – 20:15 hrs | Break
20:15 – 21:45 hrs | Corporate Satellites
Note that the programme is subject to change, and will be updated continuously up to the conference