Publication > Page 27
  • Cancer Cell  ·  April 2, 2024

    Mutant IDH inhibitors induce lineage differentiation in IDH-mutant oligodendroglioma.

    Avishay Spitzer, Simon Gritsch, Masashi Nomura, Alexander Jucht, Jerome Fortin, Ramya Raviram, Hannah R Weisman, L Nicolas Gonzalez Castro, Nicholas Druck, Rony Chanoch-Myers, John J Y Lee, Ravindra Mylvaganam, Rachel Lee Servis, Jeremy Man Fung, Christine K Lee, Hiroaki Nagashima, Julie J Miller, Isabel Arrillaga-Romany, David N Louis, Hiroaki Wakimoto, Will Pisano, Patrick Y Wen, Tak W Mak, Marc Sanson, Mehdi Touat, Dan A Landau, Keith L Ligon, Daniel P Cahill, Mario L Suvà, Itay Tirosh

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  • NPJ Genomic Medicine  ·  March 27, 2024

    Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.

    Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley & Ryan J. Taft on behalf of the Medical Genome Initiative

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  • Science Advances  ·  March 22, 2024

    Childhood cancer mutagenesis caused by transposase-derived PGBD5.

    Makiko Yamada, Ross R Keller, Rodrigo Lopez Gutierrez, Daniel Cameron, Hiromichi Suzuki, Reeti Sanghrajka, Jake Vaynshteyn, Jeffrey Gerwin, Francesco Maura, William Hooper, Minita Shah, Nicolas Robine, Phillip Demarest, N Sumru Bayin, Luz Jubierre Zapater, Casie Reed, Steven Hébert, Ignas Masilionis, Ronan Chaligne, Nicholas D Socci, Michael D Taylor, Claudia L Kleinman, Alexandra L Joyner, G Praveen Raju, Alex Kentsis

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  • NPJ Genomic Medicine  ·  March 22, 2024

    Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.

    Marta Viggiano, Fabiola Ceroni, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Laura Sandoni, Irene Baravelli, Cinzia Cameli, Magali J. Rochat, Alessandra Maresca, Alessandro Vaisfeld, Davide Gentilini, Luciano Calzari, Valerio Carelli, Michael C. Zody, Elena Maestrini & Elena Bacchelli

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  • STAR Protocols  ·  March 20, 2024

    GoT-Splice protocol for multi-omics profiling of gene expression, cell-surface proteins, mutational status, and RNA splicing in human cells.

    Ganesan S, Cortés-López M, Swett AD, Dai X, Hickey S, Chamely P, Hawkins AG, Juul S, Landau DA, Gaiti F.

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  • JMIR Publications  ·  March 15, 2024

    A Closed-Loop Digital Health Tool to Improve Depression Care in Multiple Sclerosis: Iterative Design and Cross-Sectional Pilot Randomized Controlled Trial and its Impact on Depression Care.

    Kyra Henderson, Jennifer Reihm, Kanishka Koshal, Jaeleene Wijangco, Narender Sara, Nicolette Miller, Marianne Doyle, Alicia Mallory, Judith Sheridan, Chu-Yueh Guo, Lauren Oommen, Katherine P Rankin, Stephan Sanders, Anthony Feinstein, Christina Mangurian, Riley Bove

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  • Molecular Psychiatry  ·  March 14, 2024

    Early-life prefrontal cortex inhibition and early-life stress lead to long-lasting behavioral, transcriptional, and physiological impairments.

    Edênia C. Menezes, Heather Geiger, Fabiula F. Abreu, Lital Rachmany, Donald A. Wilson, Melissa J. Alldred, Francisco X. Castellanos, Rui Fu, Derya Sargin, André Corvelo & Cátia M. Teixeira

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  • European Journal of Human Genetics  ·  March 11, 2024

    Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.

    Lea Urpa, Mitja I. Kurki, Elisa Rahikkala, Eija Hämäläinen, Veikko Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, … Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie & Mark J. Daly

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  • Science Direct.  ·  March 11, 2024

    Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.

    Ryan J Schmidt, Marcie Steeves, Pinar Bayrak-Toydemir, Katherine A Benson, Bradley P Coe, Laura K Conlin, Mythily Ganapathi, John Garcia, Michael H Gollob, Vaidehi Jobanputra, Minjie Luo, Deqiong Ma, Glenn Maston, Kelly McGoldrick, T Blake Palculict, Tina Pesaran, Toni I Pollin, Emily Qian, Heidi L Rehm, Erin R Riggs, Samantha L P Schilit, Panagiotis I Sergouniotis, Tatiana Tvrdik, Nicholas Watkins, Lauren Zec, Wenying Zhang, Matthew S Lebo; ClinGen Low Penetrance/Risk Allele Working Group.

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