Saturday, June 6 – Virtual Conference

Chair:   Martin Kircher & Malte Spielmann
Room:  Hall B

E01.1 Tracing Development and Dissecting Gene Regulation Using Single-Cell and CRISPR Methods

Jonathan Weissman;
United States

E01.2 Nanopore Sequencing of Human Genomes: the long and short of it.

Matthew Loose;
United Kingdom

E01.3 Massively Paralleled Variant Interpretation

Douglas M. Fowler;
United States

E01.4 Optical mapping for clinical structural variants detection

Alexander Hoischen;
The Netherlands

Chairs:   tba
Room:   Hall B

C01.1 Consistency of carrier screening guidelines across seven populations and 408,00 individuals

Aishwarya Arjunan, R. Ben-Shachar, R. Torres, K. Johansen Taber, K.E. Kaseniit, D. Muzzey;
South San Francisco, United States

C01.2 Expanded carrier screening of recessive disorders (CarrierTest) in clinical practice

Jan Diblík, M. Bittóová, F. Lhota, F. Zembol, L. Dohnalová, Z. Vilímová, I. Soldátová, M. Hrabíková, I. Pavlechová, M. Koudová, D. Stejskal;
Praha, Czech Republic

C01.3 Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders

Manon S. Oud, B.J. Houston, L. Volozonoka, F.K. Mastrorosa, B. Alobaidi, P.F. de Vries, G. Astuti, L. Ramos, R. Burke, R.I. McLachlan, M.K. O’Bryan, J.A. Veltman, H.E. Chemes, H. Sheth;
Nijmegen, Netherlands

C01.4 Identification of novel causes for male infertility: loss-of-function variants in MSH4 and MSH5

Margot J. Wyrwoll*, C. Friedrich, E. Kaminsky, C. Krallmann, S. Kliesch, F. Tüttelmann;
Münster, Germany

C01.5 Non-invasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA

Huiwen Che*, D. Villela, E. Dimitriadou, C. Melotte, N. Brison, M. Neofytou, K. Van Den Bogaert, O. Tsuiko, K. Devriendt, E. Legius, M. Zamani Esteki, T. Voet, J.R. Vermeesch;
Leuven, Belgium

C01.6 Trio exome/whole exome sequencing in prenatal diagnosis: Experiences from >400 cases shows a high diagnostic yield and a great benefit for pregnancy management and genetic counselling.

Heinz Gabriel, C. Wilhelm, F. Battke, E. Goldmann, C. Bus, S. Biskup;
Tuebingen, Germany

Chairs:  tba
Room:   A6+A7

C02.1 SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neurodevelopmental disorders

A. Fliedner, P. Kirchner, K.E. Agre, I. de Graaf-van de Laar, M. Dutra Clarke, L. Davis-Keppen, A.B. Ekici, A. Gregor, N. Lippa, K. McWalter, G. Mirzaa, G. Noh, L. Ohden, D.A. Scott, S. Lalani, R. Straussberg, R. Cohen, A. Wiesener, Christiane Zweier;
Erlangen, Germany

C02.2 Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder

Joery den Hoed*, E. de Boer, N. Voisin, N. Guex, L. Snijders Blok, J. Chrast, The DDD study, L. Manwaring, M. Willing, A. Waheeb, M. Osmond, K. McWalter, A. Vitobello, F. Demurger, A. Lavillaureix, S. Odent, B. Mazel, L. Faivre, I. Thiffault, C. Schwager, S.M. Amudhavalli, J.A. Rosenfeld, K. Radtke, E. Preiksaitiene, E. Ranza, C. Depienne, A. Kuechler, S. Mohammed, Y. Hamzavi Abedi, V.R. Bonagura, B. Zuccarelli, B. Horist, V. Krishnamurthy, A.A. Kattentidt-Mouravieva, L. Granger, A. Petersen, K.L. Jones, M. Sinnema, A.P.A. Stegmann, R. Newbury-Ecob, U. Kini, D.F. Newbury, C. Gilissen, H. Brunner, T. Kleefstra, A. Reymond, L.E.L.M. Vissers, S.E. Fisher;
Nijmegen, Netherlands

C02.3 De novo frameshift variants in the neuronal splicing factor NOVA2 result in a common C-terminal part and cause a severe form of neurodevelopmental disorder

Francesca Mattioli*, G. Hayot, N. Drouot, B. Isidor, J. Courraud, M. Hinckelmann, F. Tran Mau-Them, C. Sellier, A. Goldman, A. Telegrafi, A. Boughton, C. Gamble, S. Moutton, A. Quartier, N. Jean, P. Van Ness, S. Grotto, S. Nambot, G. Douglas, Y. Si, J. Chelly, Z. Shad, E. Kaplan, R. Dineen, C. Golzio, N. Charlet, J. Mandel, A. Piton;
Illkirch, France

C02.4 Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures

Dmitrijs Rots*, E. Chater-Diehl, A.J.M. Dingemans, M. Siu, C. Cytrynbaum, N. Hoang, S. Walker, S. Scherer, R. Pfundt, T. Rinne, T. Gardeitchik, B.B.A. de Vries, C.T.R.M. Stumpel, S.J.C. Stevens, J. van Harssel, D.G.M. Bosch, K.L.I. van Gassen, E. van Binsbergen, C.M. de Geus, M. Hempel, D. Lessel, J. Denecke, A. Slavotinek, J. Strober, L.B. Ousager, M. Larsen, L. Schultz-Rogers, E. Morava, E.W. Klee, I.R. Berry, J. Campbell, K. Lindstrom, A.M. Neumeyer, J.A. Radley, C. Phornphutkul, W.G. Wilson, B. Schmidt, S. Meyn, K. Ounap, K. Reinson, S. Pajusalu, C. Ruivenkamp, A. van Haeringen, R. Cuperus, GeneDx inc., L.E.L.M. Vissers, H.G. Brunner, T. Kleefstra, D.A. Koolen, R. Weksberg;
Nijmegen, Netherlands

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

K. Mohajeri, Eva D’haene*, R. Yadav, H. Gu, B. Menten, A. Presser Aiden, C. Lowther, S. Erdin, E. Lieberman Aiden, J. Gusella, S. Vergult, M. Talkowski;
Gent, Belgium

C02.6 Crispr-Cas9-engineered Pigv^341E mouse model mirrors the human phenotype, reveals a hippocampal synaptic defect and suggests a major role of impaired Abl1/Ephrin signaling pathway in GPI anchor deficiency

Miguel Rodríguez de los Santos, M. Rivalan, F.S. David, A. Knaus, A. Stumpf, L. Moreno Velasquez, A. Voigt, D. Mattei, M. Long, L. Wittler, B. Timmermann, D. Horn, S. Mundlos, U. Kornak, D. Schmitz, Y. Winter, P.M. Krawitz;
Berlin, Germany

Chairs:  tba
Room:   A8

C03.1 Reconciling GWAS and Mendelian genetics through core-gene identification

Olivier B. Bakker, A. Claringbould, H. Westra, S. Mulcahy Symmons, M. Swertz, I.H. Jonkers, L. Franke, P. Deelen;
Groningen, Netherlands

C03.2 Improved de novo mutation detection through deep learning

Karolis Šablauskas*, W. Steyaert, D. Rots, R. Pfundt, H.G. Yntema, H.G. Brunner, A. Hoischen, L.E.L.M. Vissers, C. Gilissen;
Nijmegen, Netherlands

C03.3 GestaltMatch: breaking the limits of rare Mendelian disorder diagnosis by matching patients with next-generation phenotyping

Tzung-Chien Hsieh*, A. Bar-Haim, G. Nadav, T.J. Pantel, N. Fleischer, P. Krawitz;
Bonn, Germany

C03.4 Untranslated region (UTR) variant analysis across 71,702 genomes to build a framework for variant interpretation

Sander Pajusalu*, N.J. Lake, M. Lek;
New Haven, United States

C03.5 Hotspot detection in homologous protein domains using de novo mutations from 31,058 patients identify candidate developmental disorder genes

Laurens van de Wiel*, H. Venselaar, L.E.L.M. Vissers, G. Vriend, J.A. Veltman, C. Gilissen;
Nijmegen, Netherlands

C03.6 Cell type specific genetic regulation of gene expression across human tissues

Sarah Kim-Hellmuth, F. Aguet, M. Oliva, S. Kasela, M. Muñoz-Aguirre, V. Wucher, GTEx Consortium, R. Guigó, B.E. Stranger, K.G. Ardlie, T. Lappalainen;
Munich, Germany

Chairs:   Alexandre Reymond, Joris Veltman
Room:   Hall B

PL1.1 Title to be announced

Speaker to be announced;
This lecture will be given by the Leena Peltonen Prize Award Winner.

PL1.2 RNA splicing defects in cancer

Robert Bradley;
United States

PL1.3 Molecular therapy for Cystic Fibrosis

Harry Heijerman;
The Netherlands

Chairs:   Alexandre Reymond, Joris Veltman
Room:   Hall B

PL2.1 Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders

E. Aref-Eshghi, J. Kerkhof, V. Pedro, Groupe DI France, M. Barat-Houari, N. Ruiz-Pallares, M. Alders, M. Mannens, P. Henneman, R.C. Hennekam, A. Ciolfi, S. Pizzi, M. Tartaglia, P.M. Campeau, J. Rousseau, M.A. Levy, L. Brick, M. Kozenko, T.B. Balci, V.M. Siu, A. Stuart, M. Kadour, J. Masters, K. Takano, T. Kleefstra, N. de Leeuw, M. Field, M. Shaw, J. Gecz, G. Merla, P.J. Ainsworth, H. Lin, D.I. Rodenhiser, M.J. Friez, M. Tedder, J.A. Lee, B.R. DuPont, R.E. Stevenson, S.A. Skinner, C.E. Schwartz, D. Genevieve, Bekim Sadikovic;
London, Canada

PL2.2 Identity-by-descent detection across 487,409 British samples reveals fine-scale population structure, evolutionary history, and trait associations

Juba Nait Saada*, G. Kalantzis, D. Shyr, M. Robinson, A. Gusev, P. Palamara;
Oxford, United Kingdom

PL2.3 Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Malin Kvarnung, T. Wang, K. Hoekzema, D. Vecchio, H. Wu, A. Sulovari, B.P. Coe, M.A. Gillentine, A.B. Wilfert, A. Lindstrand, A. Nordgren, B. Anderlid, J.A. Rosenfeld, P. Liu, -. ASID Consortium, I.E. Scheffer, N. Brunetti-Perri, N. Rommelse, D.G. Amaral, G.W.E. Santen, E. Trabetti, Z. Sedláček, J.J. Michaelson, E. Courchesne, F.R. Kooy, -. The SPARK Consortium, C. Romano, H. Peeters, R.A. Bernier, J. Gecz, K. Xia, E.E. Eichler, M. Nordenskjöld;
Stockholm, Sweden

PL2.4 Genomic and transcriptomic profiling of malformations of cortical development: from tissue to single-cell resolution

Sara Baldassari*, M. Chipaux, E. Marsan, S. Ferrand‑Sorbets, G. Dorfmüller, H. Adle‑Biassette, S. Baulac;
Paris, France

PL2.5 TAD-shuffling at the FGF8 locus causes Split-Hand/Foot Malformation type 3

Giulia Cova*, R. Schöpflin, R. Falcone, B. Timmermann, L. Wittler, O. Zuffardi, M. Spielmann, S. Mundlos;
Berlin, Germany

PL2.6 The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

Nicolas Chatron*, G. Giannuzzi, P. Rollat-Farnier, F. Diguet, E. Porcu, T. Yammine, K. UGUEN, Z. Bellil, J. Lauer Zillhardt, A. Sorlin, F. Ader, A. Afenjar, J. Andrieux, C. Bardel, E. Calpena, S. Chantot-Bastaraud, P. Callier, N. Chelloug, E. Chopin, M. Cordier, C. Dubourg, L. Faivre, F. Girard, S. Heide, Y. Herenger, S. Jaillard, B. Keren, S.J.L. Knight, J. Lespinasse, L. Lohmann, N. Marle, R. Maroofian, A. Masurel-Paulet, M. Mathieu-Dramard, C. Metay, A.T. Pagnamenta, M. Portnoï, F. Prieur, M. Rio, J. Siffroi, S. Valence, J.C. Taylor, A.O.M. Wilkie, P. Edery, A. Reymond, D. Sanlaville, C. Schluth-Bolard;
Lyon, France

Chairs:  tba
Room:   A3

C04.1 Unique somatic mutation lanscape enhances tumor predisposition in the kidney proximal tubule

Irene Franco, H.T. Helgadottir, A. Moggio, M. Larsson, P. Vrtacnik, A. Johansson, N. Norgren, P. Lundin, D. Mas-Ponte, J. Nordström, T. Lundgren, P. Stenvinkel, L. Wennberg, F. Supek, M. Eriksson;
HUDDINGE, Sweden

C04.2 TFEB constitutive activation underlies polycystic kidney and renal carcinoma in Birt-Hogg-Dube’ syndrome

Chiara Di Malta, G. Napolitano, A. Esposito, M. Matarese, V. Benedetti, A. Zampelli, D. Siciliano, A. Venuta, M. Cesana, C. Vilardo, E. Nusco, J. Monfregola, A. Ballabio;
Pozzuoli (NA), Italy

C04.3 Oncogenic transcription factors are over-represented in mutated active DNA binding sites in neuroblastoma and Wilms tumor

Vito A. Lasorsa*, F. Cimmino, M. Avitabile, S. Cantalupo, A. Montella, B. De Angelis, M. Morini, C. de Torres, A. Castellano, F. Locatelli, A. Iolascon, M. Capasso;
Napoli, Italy

C04.4 Characterization of circRNA profiles in childhood acute lymphoblastic leukemia

Angela Gutierrez-Camino*, M. Caron, C. Richer, E. Lopez-Lopez, I. Martin-Guerrero, B. Frutos, P. St-Onge, A. Bataille, D. Sinnett;
Leioa, Spain

C04.5 Patient-derived PDAC organoids recapitulate tumor cell state heterogeneity and functional hierarchy in vitro

Teresa G. Krieger*, J. Jabs, S. LeBlanc, A. Giri, O. Strobel, R. Eils, C. Conrad;
Berlin, Germany

C04.6 Integrative analyses of 100 genomes of Basal Cell Carcinoma in the context of transcription and methylation profiles

Sergey I. Nikolaev, A. Yurchenko, A. Sartori, I. Padioleau, F. Rajabi, L. Parmentier, D. Salomon, E. Dermitzakis, H. Ongen;
VILLEJUIF, France

Chairs:   tba
Room:   A2

C05.1 Investigating the role of KMT2C in heart development

Shona C. Borland, G. Tenin, R. Monaghan, S. Williams, M. Zi, C. Wilson, S. Prehar, E. Cartwright, S. Abraham, B. Keavney;
Manchester, United Kingdom

C05.2 Mutations in KDR, encoding for vascular endothelial growth factor receptor 2, contribute to Tetralogy of Fallot

Doris Skoric-Milosavljevic*, N. Lahrouchi, F. Bosada, G. Dombrowsky, F. Tjong, I. El Bouchikhi, M. Hababa, S. Williams, R. Walsh, L. Beekman, A. Ilgun, R. Lesurf, E. Audain, J. Breckpot, B.J. Mulder, S. Clur, S. Mital, B. Keavney, M. Hitz, V. Christoffels, E.M. Lodder, A.V. Postma, C.R. Bezzina;
Amsterdam, Netherlands

C05.3 Bi-allelic loss-of-function mutations in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Najim Lahrouchi*, A. Postma, C.M. Salazar, D. De Laughter, F. Tjong, L. Piherová, F.Z. Bowling, D. Zimmerman, E.M. Lodder, A. Ta-Shma, Z. Perles, L. Beekman, A. Ilgun, Q. Gunst, M. Hababa, D. Škorić‐Milosavljević, P. de Knijff, R. de Leeuw, J.Y. Robinson, S.C. Burn, H. Mustafa, M. Ambrose, T. Moss, J. Jacober, D.M. Niyazov, A. Rousounides, A. Aristidou-Kallika, G. Tanteles, M. Magliozzi, F.C. Radio, G.W.E. van Santen, J.C. Herkert, O. Elpeleg, M. van den Hoff, B. Mulder, M.V. Airola, S. Kmoch, J.V. Barnett, S. Clur, M.A. Frohman, C.R. Bezzina;
Amsterdam, Netherlands

C05.4 Pathogenic variants in THSD4, encoding the ADAMTS-Like 6 protein, predispose to inherited thoracic aortic aneurysm

Sandy Elbitar*, M. Renard, P. Arnaud, N. Hanna, M. Jacob, D. Guo, K. Tsutsui, M. Gross, K. Kessler, L. Tosolini, V. Dattilo, S. Dupont, J. Jonquet, M. Langeois, L. Benarroch, M. Aubart, Y. Ghaleb, Y. Abou Khalil, M. Varret, P. El Khoury, B. Ho-Tin-Noé, Y. Alembik, S. Gaertner, B. Isidor, L. Gouya, O. Milleron, K. Sekiguchi, D. Milewicz, J. De Backer, C. Le Goff, J. Michel, G. Jondeau, L.Y. Sakai, C. Boileau, M. Abifadel;
Paris, France

C05.5 Functional characterization of rare SHOX2 variants identified in sinus node dysfunction and atrial fibrillation

Sandra Hoffmann, C. Paone, S.A. Sumer, S. Diebold, B. Weiss, R. Roeth, S. Clauss, I. Klier, S. Kääb, A. Schulz, P.S. Wild, A. Ghrib, T. Zeller, R.B. Schnabel, S. Just, G.A. Rappold;
Heidelberg, Germany

C05.6 A novel microRNA in human induced pluripotent stem cell-derived cardiomyocytes regulates hypertrophy and is a biomarker of left ventricular hypertrophy

A. Turner, P. Aggarwal, A. Matter, C. Gu, D.K. Arnett, Ulrich Broeckel;
Milwaukee, United States

Chairs:  tba
Room:   A1

C06.1 Structural variants implicate ectopic enhancer-gene contacts in Retinitis Pigmentosa

Alessia Fiorentino, S.E. de Bruijn, D. Ottaviani, S. Fanucchi, U.S. Melo, J.C. Serrano, T. Mulders, M. Georgiou, C. Rivolta, N. Pontikos, G. Arno, L. Roberts, J. Greenberg, S. Albert, C. Gilissen, M. Aben, G. Rebello, S. Mead, L. Raymond, J. Corominas, C.E.L. Smith, H. Kremer, S. Downes, G.C. Black, A.R. Webster, C.F. Inglehearn, I. van den Born, R. Koenekoop, M. Michaelides, R.S. Ramesar, C.B. Hoyng, S. Mundlos, M.M. Mhlanga, F.P.M. Cremers, M.E. Cheetham, S. Roosing, A.J. Hardcastle;
London, United Kingdom

C06.2 Whole Exome Sequencing, Molecular Assays, Immunohistology and Animal Models associate USP48 to Hereditary Hearing Loss

Sissy Bassani*, A. Morgan, M. Cocca, N. Voisin, J. Chrast, S. Pradervand, N. Guex, B. Delprat, M. Rossel, H. Locher, E. Van Beelen, M. Tangui, P. Gasparini, G. Girotto, A. Reymond;
Trieste, Italy

C06.3 Ablation of the congenital microcoria (MCOR) critical region on 13q32.1 activates common-type glaucoma signaling pathways challenging a developmental etiology of MCOR-associated glaucoma.

Clementine Angee*, B. Nedelec, P. David, S. Gerber, S. Crippa, B. Passet, J. Vilotte, N. Chassaing, J. Kaplan, C. Costic, P. Calvas, J. Rozet, L. Fares-Taie;
Paris, France

C06.4 Mouse and human studies support a role for CAPN15 variants in cataract and microphthalmia

C. Zha, C.A. Farah, Richard J. Holt, F. Ceroni, L. AlAbdi, A.O. Khan, R. Helaby, F.S. Alkuray, A. Kraus, N.K. Ragge, W.S. Sossin;
Oxford, United Kingdom

C06.5 DYNC2H1 hypomorphic or retina-predominant variants cause non-syndromic retinal degeneration

Anjali V. Vig, J.A. Poulter, D. Ottaviani, E. Tavares, K. Toropova, A.M. Tracewska, A. Mollica, J. Kang, O. Kehelwathugoda, T. Paton, J.T. Maynes, G. Wheway, G. Arno, K.N. Khan, M. McKibbin, C. Toomes, M. Ali, M. Di Scipio, S. Li, J. Ellingford, G. Black, A. Webster, M. Rydzanicz, P. Stawiński, R. Płoski, A. Vincent, M.E. Cheetham, C.F. Inglehearn, A. Roberts, E. Heon;
Toronto, Canada

C06.6 Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

A. Kröll-Hermi, F. Ebstein, C. Stoetzel, V. Geoffroy, E. Schaefer, S. Scheidecker, S. Bär, M. Takamiya, K. Kawakami, B. Zieba, F. Studer, V. Pelletier, C. Speeg-Schatz, V. Laugel, D. Lipsker, F. Sandron, S. McGinn, A. Boland, J. Deleuze, L. Kuhn, J. Chicher, P. Hammann, S. Friant, C. Etard, E. Krüger, Jean Muller, U. Strähle, H. Dollfus;
Strasbourg, France

Chairs:  tba
Room:  A4

C07.1 Implementing a hybrid clinical/research model in genomic medicine: post 100,000 Genomes Project

Christine Patch, E. Thomas, F. Maleady Crowe, R. Wier, T. Fowler, M. Bishop, A. Pichini;
London, United Kingdom

C07.2 A tailored approach towards informing relatives at risk of inherited cardiac diseases: preliminary results of a randomized controlled trial

Lieke M. Van den Heuvel*, Y.M. Hoedemaekers, A.F. Baas, M.J.H. Baars, E.M.A. Smets, J.P. van Tintelen, I. Christiaans;
Amsterdam, Netherlands

C07.3 Measuring the burden of direct-to-consumer genetic testing on clinical genetics services

Jane M. Tiller*, M. Millward, M. Bogwitz, H. Kincaid, S. Taylor, A. Trainer, P. Lacaze;
Melbourne, Australia

C07.4 Critical components of informed consent for genetic testing: Results of a Delphi Consensus process

Kelly E. Ormond, M. Borensztein, A.H. Buchanan, W. Faucett, M.L.G. Hallquist, H.L. Peay, M.E. Smith, E. Tricou, W.R. Uhlmann, K.E. Wain, C.R. Coughlin II;
Stanford, United States

C07.5 Public attitudes towards human germline gene editing: a baseline survey in the Netherlands

Diewertje Houtman*, M. Polak, B. Vijlbrief, P. Verheggen, R. Hofstra, S. Riedijk;
Rotterdam, Netherlands

C07.6 Does Genetic Counseling lead to effective coping with genetic risk information?

Barbara B. Biesecker, M.T. Cho;
Bethesda, United States