ASHG 2021 Virtual Meeting: Presentations by SFARI Investigators and collaborators

A number of SFARI Investigators, collaborators and Simons Foundation scientists will present their latest research findings at the American Society of Human Genetics (ASHG) 2021 Virtual Meeting, which will be held October 18–22. A professional development and industry forum will be held before the official meeting begins (October 12–14).

A selection of these presentations is highlighted below.

Monday, October 18

Poster presentation:
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder*1

A. Chan, W. Engchuan, M. S. Reuter, Z. Wang, B. Thiruvahindrapuram, B. Trost, T. Nalpathamkalam, C. Negrijn, S. Lamoureux, G. Pellecchia, R. Patel, W. W. L. Sung, J. R. MacDonald, J. Howe, J. Vortsman, N. Sondheimer, N. Takahashi, J. H. Miles, E. Anagnostou, K. Tammimies, M. Zarrei, D. Merico, D. J. Stavropoulos, R. K. Yuen, B. A. Fernandez, S. W. Scherer

Poster presentation:
De novo heterozygous POLR2A variant associates with autism spectrum disorder with epilepsy, hypotonia, strabismus and self-injurious behaviors

D. Evans, Y. Qiao, S. Martel, K. Calli, S. Jones, S. W. Scherer, S. M. Lewis

Poster presentation:
Sex bias in neurodevelopmental defects due to differential effects of gene dosage and genetic interactions

S. Girirajan, N. Gong, A. Sarker, B. Scanlon, T. Yusuff, L. Pizzo, M. C. Jensen, A. Tyryshkina, M. Singh, J. S. Iyer, M. Das, V. Pounraja, M. Kayser, P. Ingraham

Poster presentation:
Delineation of a neurodevelopmental syndrome caused by PAX5 haploinsufficiency

Y. Gofin, T. M. Scott, C. A. Genetti, P. B. Agrawal, J. D. Picker, M. H. Wojcik, S. Lynch, S. W. Scherer, J. Howe, M. A. Gillentine, T. Wang, E. E. Eichler, R. K. Earl, S. DiTroia, W. D. Graf, D. A. Scott
Melissa Gymrek is an assistant professor at the University of California, San Diego.

Poster presentation:
Inferring negative natural selection at short tandem repeats in the human genome

B. Huang, K. E. Lohmueller, M. Gymrek

Poster presentation:
Identification of X-linked missense variants in TAF1 in 4 unrelated families with autism spectrum disorder (ASD)

J. Lim, Y. Qiao, K. Calli, S. Martell, S. J. M. Jones, S. W. Scherer, S. M. Lewis

Poster presentation:
Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases*1

P. C. Marcogliese, S. L. Deal, J. Andrews, J. Harnish, V. Bhavana, H. K. Graves, S. Jangam, X. Luo, N. Liu, Y-H. Chao, B. Hull, P-T. Lee, C. M. Longley, H-T. Chao, H. Chung, N. A. Haelterman, L. Z. Rossetti, A. Gerard, E. Sukarova-Angelovska, S. Trajkova, B. Keren, L. Perrin, T. Courtin, F. Tran Mau-Them, J. Delanne, E. Rosenhahn, K. Platzer, V. Strehlow, E. M. C. Schwaibold, R. Guerrini, A. Vetro, E. England, C. N. Murali, S. Barakat, M. F. van Dooren, M. Wilke, M. A. van Slegtenhorst, G. Lesca, I. Sabatier, N. Chatron, J. A. Madden, C. A. Brownstein, P. B. Aggrawal, R. Keller, L. Pavinato, A. Brusco, J. A. Rosenfeld, R. Marom, M. F. Wangler, S. Yamamoto

Poster presentation:
A repetitive request: for the genome wide study of short tandem repeats in human phenotypic variation

J. Margoliash, S. Saini, A. Goren, M. Gymrek

Poster presentation:
Population level study of tandem repeats using an ensemble call-set

N. Mousavi, N. Ma, H. Ziaei Jam, B. Huang, M. Gymrek

Poster presentation:
Rapid identification of genetic factors contributing to autism spectrum development with disproportionate megalencephaly in a model system*1

S. Nishizaki, C. W. Nordahl, D. G. Amaral, M. Y. Dennis

Poster presentation:
The phenotypic trajectory of 16p12.1 deletion is determined by family history of disease

L. Pizzo, C. Smolen, M. C. Jensen, A. Tyryshkina, L. Rohan, E. Huber, C. Taylor, 16p12.1 deletion Consortium, S. Girirajan 

Poster presentation:
Building a predictive matrix model for autism genotype-phenotype associations*3

E. Sams, T. N. Turner

Poster presentation:
An IQ-matched genetic comparison between cases with ASD and typically-developing controls*2

Z. Schmilovich, G. Huguet, E. Douard, C. Liao, J. Ross, G. Schumann, P. A. Dion, S. Jacquemont, G. A. Rouleau

Poster presentation:
Assortative mating drives pathogenicity of variably expressive CNVs*1,3

C. Smolen, M. C. Jensen, L. Pizzo, A. Tyryshkina, V. Pounraja, L. Dyer, J. S. Juusola, 16p12.1 Consortium, S. Girirajan

Poster presentation:
Kmt5b is highly expressed in the developing brain and may regulate other known autism risk genes and processes

H. Stessman, R. Wickramasekara, B. Robertson, J. Hallgren

Poster presentation:
Dimensional traits in genetic research of autism show greater heritability and generalization than case-control traits*2

T. Thomas, T. Koomar, J. J. Michaelson

Poster presentation:
Patterns of gene expression variation in large families carrying developmental delay-associated 16p12.1 deletion

A. Tyryshkina, M. C. Jensen, L. Pizzo, C. Smolen, M. Das, E. Huber, A. Krishnan, S. Girirajan 

Poster presentation:
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

G. K. Varshney, S-J. Lin, B. Vona, P. G. Barbalho, R. Kaiyrzhanov, R. Maroofian, C. Petree, M. Severino, V. Stanley, P. Varshney, P. Bahena, F. Alzahrani, A. Alhashem, A. Pagnamenta, G. Aubertin, J. Estrada-Vera, H. Adrian Diaz-Hernandez, N. Mazahery, A. Oza, J. Thies, R. Deborah, S. Dugad, J. McEvoy, T. Sultan, L. Pais, B. Tabarki, D. Villalobos-Ramirez, A. Rad, Genomics England Research Consortium, H. Galehdari, F. Ashrafzadeh, A. Sahebzamani, K. Saeidi, E. Torti, S. Mora, T. Palculict, H. Yang, M. Joshi, M. Behra, S. Burgess, S. K. Nath, M. Hanna, M. Kenna, H. Houlden, E. Ghayoor, M. S. Zaki, T. H. Haaf, F. S. Alkuraya, J. Gleeson

Poster presentation:
Integrated gene analyses of de novo mutations from 46,612 trios with autism and developmental delay*2

T. Wang, C. Kim, T. E. Bakken, M. A. Gillentine, B. Henning, Y. Mao, C. Gilissen, SPARK Consortium, T. J. Nowakowski, E. E. Eichler 

Poster presentation:
Common and rare genetic risk for autism have opposing effects on cognition at autism-associated genes*1,2

D. Weiner, J. Grove, J. Fu, F. Satterstrom, H. Brand, iPSYCH Consortium, L. O’Connor, M. J. Daly, A. D. Borglum, M. E. Talkowski, E. Robinson

Tuesday, October 19

Timothy Yu is an assistant professor at Boston Children’s Hospital.

Platform presentation:
Computational and functional characterization of the hs737 enhancer in autism*1

E. Padhi, Z. Cheng, E. Mehinovic, M. Willems, L. Pinson, S. Redon, C. Benech, K. Uguen, S. Audebert, C. Le Marechal, C. Ferec, S. Efthymiou, F. Rahman, S. Maqbool, R. Maroofian, H. Houlden, R. Bernier, D. U. Gorkin, B. A. Cohen, T. Turner

Wednesday, October 20

Platform presentation:
Classes of rare and common variants differentially contribute to variably expressive phenotypes in complex disorders

M. C. Jensen, A. Tyryshkina, L. Pizzo, C. Smolen, V. Pounraja, E. Huber, C. Taylor, V. M. Rajagopal, H. Song, 16p12.1 Deletion Consortium, S. Girirajan

Platform presentation:
CAPRIN1 haploinsufficiency causes a novel neurodevelopmental disorder associated with morphological and functional impairment in hiPSCs-derived cortical neurons

L. Pavinato, A. Delle Vedove, D. Carli, M. Ferrero, S. Carestiato, J. L. Howe, E. Agolini, D. A. Coviello, I. van de Laar, P-Y. Billie Au, E. Di Gregorio, A. Fabbiani, S. Croci, M. Mencarelli, L. P. Bruno, A. Renieri, R. van Jaarsveld, A. Childers, R. C. Rogers, A. Novelli, G. B. Ferrero, S. W. Scherer, B. Wirth, A. Brusco

Plenary presentation:
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

J. Sebat, D. Antaki, J. Guevara, A. Maihofer, M. Klein, M. Gujral, J. Grove, C. E. Carey, O. Hong, M. J. Arranz, A. Hervas, C. Corsello, A. MuotriL. M. Iakoucheva, E. CourchesneK. PierceJ. Gleeson, E. B. Robinson, C. M. Nievergelt

Platform presentation:
Large-scale, multi-ethnic resource of gene, isoform, and splicing regulation in the developing human brain

C. Wen, R. Dai, P. F. Przytycki, M. Kim, A. Bhattacharya, P. Zhang, R. L. Walker, PsychENCODE Consortium, D. Pinto, K. S. Pollard, C. Liu, M. J. Gandal

Invited session:
N-of-1 precision medicine in the era of antisense oligonucleotide therapeutics

Invited session presentation:
Early forays in individualized genomic medicine, the milasen example & beyond

Friday, October 22

Platform presentation:
Quantifying the developmental trajectory of autism associated brain overgrowth using 3D cellular resolution imaging

F. Kyere, C. M. McCormick, O. Krupa, M. R. Glass, T. M. Farah, J. A. Jimenez, M. S. Itano, M. J. Zylka, G. Wu, J. Stein 

Platform presentation:
Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation

B. Trost, B. Thiruvahindrapuram1, A. J. S. Chan, W. Engchuan, E. J. Higginbotham, J. L. Howe, L. O. Loureiro, M. S. Reuter, D. Roshandel, J. Whitney, M. Zarrei, M. Bookman, M. Fiume, R. K. C. Yuen, J. Sebat, T. Frazier, D. Glazer, D. M. Hartley, S. W. Scherer

* Uses data and/or resources from 1 Simons Simplex Collection, 2 SPARK, 3 Simons Searchlight.

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