Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Tor Solli-Nowlan"'
Autor:
Thomas Guignard, Audrey Schalk, Jean-Baptiste Gaillard, Hélène Dollfus, Tor Solli-Nowlan, Véronique Geoffroy, Arnaud Kress, Vincent Gatinois, Sophie Scheidecker, Jean Muller
Publikováno v:
Nucleic Acids Research
Nucleic Acids Research, 2021, 49, ⟨10.1093/nar/gkab402⟩
Nucleic Acids Research, Oxford University Press, 2021, 49, ⟨10.1093/nar/gkab402⟩
Nucleic Acids Research, 2021, 49, ⟨10.1093/nar/gkab402⟩
Nucleic Acids Research, Oxford University Press, 2021, 49, ⟨10.1093/nar/gkab402⟩
With the dramatic increase of pangenomic analysis, Human geneticists have generated large amount of genomic data including millions of small variants (SNV/indel) but also thousands of structural variations (SV) mainly from next-generation sequencing
Autor:
Eric Fombonne, Stephen Sanders, Rita M. Cantor, Bernie Devlin, Shan Dong, Kathryn Roeder, Catherine Lord, Mack Y. Su, David H. Ledbetter, Arthur P. Goldberg, Vanessa H. Bal, Nicole A. Teran, Eric M. Morrow, Cai Jinlu, James S. Sutcliffe, Michael F. Walker, Jeffrey D. Mandell, Edwin H. Cook, Elise B. Robinson, Mark J. Daly, Kaitlin E. Samocha, Xin He, Christa Lese Martin, Timothy W. Yu, Donna M. Werling, Donna M. Martin, Arthur L. Beaudet, Michael E. Talkowski, Michael T. Murtha, Joseph D. Buxbaum, John F. Keaney, Dorothy E. Grice, A. Ercument Cicek, A. Jeremy Willsey, Somer L. Bishop, Christopher S. Poultney, Lambertus Klei, Matthew W. State, Daniel Moreno-De-Luca, Louw Smith, A. Gulhan Ercan-Sencicek, Shrikant Mane, Tor Solli-Nowlan, Christopher A. Walsh, Daniel H. Geschwind, Jennifer K. Lowe
Publikováno v:
Neuron
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q