• Acta Neuropathologica  ·  April 10, 2024

    Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease.

    Prabesh Bhattarai, Tamil Iniyan Gunasekaran, … Andrew F. Teich, Dennis W. Dickson, Scott Holley, Michael Greicius, Clifton L. Dalgard, Michael Zody, Richard Mayeux, Caghan Kizil & Badri N. Vardarajan

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  • bioRxiv  ·  April 10, 2024  ·  Pre-Print

    Recalibrating differential gene expression by genetic dosage variance prioritizes functionally relevant genes.

    Philipp RentzschAaron Kollotzek, Pejman MohammadiTuuli Lappalainen

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  • 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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  • bioRxiv  ·  March 14, 2024  ·  Pre-Print

    Enhancer-targeted CRISPR-Activation Rescues Haploinsufficient Autism Susceptibility Genes.

    eGeorge T Chen, Gayatri Nair, Aubrey J Osorio, Sandra M Holley, Kimiya Ghassemzadeh, Jose G Gonzalez, Congyi Lu, Neville E Sanjana, Carlos Cepeda, Daniel Geschwind

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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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  • bioRxiv  ·  March 7, 2024  ·  Pre-Print

    Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.

    Jonas A. Gustafson, Sophia B. Gibson, Nikhita Damaraju, Miranda PG Zalusky, Kendra Hoekzema, David Twesigomwe, Lei Yang, Anthony A. Snead, Phillip A. Richmond, Wouter De Coster, Nathan D. Olson, Andrea Guarracino, Qiuhui Li, Angela L. Miller, Joy Goffena, Zachery Anderson, Sophie HR Storz, Sydney A. Ward, Maisha Sinha, Claudia Gonzaga-Jauregui, Wayne E. Clarke, Anna O. Basile, André Corvelo, Catherine Reeves, Adrienne Helland, Rajeeva Lochan Musunuri, Mahler Revsine, Karynne E. Patterson, Cate R. Paschal, Christina Zakarian, Sara Goodwin, Tanner D. Jensen, Esther Robb, The 1000 Genomes ONT Sequencing Consortium, University of Washington Center for Rare Disease Research (UW-CRDR), Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, W. Richard McCombie, Fritz J. Sedlazeck, Justin M. Zook, Stephen B. Montgomery, Erik Garrison, Mikhail Kolmogorov, Michael C. Schatz, Richard N. McLaughlin Jr., Harriet Dashnow, Michael C. Zody, Matt Loose, Miten Jain, Evan E. Eichler, Danny E. Miller

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  • Applied Clinical Informatics.  ·  March 6, 2024

    Examining the Generalizability of Pretrained De-identification Transformer Models on Narrative Nursing Notes.

    Fangyi Chen, Syed Mohtashim Abbas Bokhari, Kenrick Cato, Gamze Gürsoy, Sarah Collins Rossetti

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  • JAMA Surgery.  ·  March 6, 2024

    Tumor-Associated Lymphocytes and Breast Cancer Survival in Black and White Women.

    Newman LA, Chen Y, Martini R, Demaria S, Formenti S, Elemento O, Davis MB.

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  • Nature Aging.  ·  February 21, 2024

    Leveraging electronic health records and knowledge networks for Alzheimer’s disease prediction and sex-specific biological insights.

    Tang AS, Rankin KP, Cerono G, Miramontes S, Mills H, Roger J, Zeng B, Nelson C, Soman K, Woldemariam S, Li Y, Lee A, Bove R, Glymour M, Aghaeepour N, Oskotsky TT, Miller Z, Allen IE, Sanders SJ, Baranzini S, Sirota M.

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  • bioRxiv.  ·  February 11, 2024  ·  Pre-Print

    The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI.

    Liubomir Chorbadjiev, Murat Cokol, Zohar Weinstein, Kevin Shi, Chris Fleisch, Nikolay Dimitrov, Svetlin Mladenov, Simon Xu, Jake Hall, Steven Ford, Yoon-ha Lee, Boris Yamrom, Steven Marks, Adriana Munoz, Alex Lash, Natalia Volfovsky, Ivan Iossifov.

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  • Nature Biotechnology.  ·  February 9, 2024

    Simultaneous single-cell analysis of 5mC and 5hmC with SIMPLE-seq.

    Dongsheng Bai, Xiaoting Zhang, Huifen Xiang, Zijian Guo, Chenxu Zhu & Chengqi Yi

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  • Annals of the American Thoracic Society.  ·  February 8, 2024

    Peripheral Blood Mononuclear Cell Gene Expression Associated with Pulmonary Microvascular Perfusion: The Multi-Ethnic Study of Atherosclerosis Chronic Obstructive Pulmonary Disease Study.

    Kristina L. Buschur, Tess D. Pottinger, Jens Vogel-Claussen, Charles A Powell, Francois Aguet, Norrina B Allen, Kristin Ardlie, David A. Bluemke, Peter Durda, Emilia A. Hermann, Eric A. Hoffman, João A.C. Lima, Yongmei Liu, Daniel Malinsky, Ani Manichaikul, Amin Motahari, Wendy S. Post, Martin R. Prince, Stephen S. Rich, Jerome I Rotter, Benjamin M. Smith, Russell P Tracy, Karol Watson, Hinrich B. Winther, Tuuli Lappalainen, R Graham Barr

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  • Muscle & Nerve.  ·  February 2, 2024

    Identification of gene fusions associated with amyotrophic lateral sclerosis.

    Yogindra Raghav BS, Allison A. Dilliott PhD, Tiziana Petrozziello PhD, Spencer E. Kim BA, James D. Berry MD, Merit E. Cudkowicz MD, Khashayar Vakili MD, NYGC ALS Consortium, Ernest Fraenkel PhD, Sali M. K. Farhan PhD, Ghazaleh Sadri-Vakili PhD

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