Publication > Page 34
  • Schizophrenia Research  ·  January 14, 2023

    Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing.

    Anna Alkelai, Lior Greenbaum, Shahar Shohat, Gundula Povysil, Ayan Malakar, Zhong Ren, Joshua E Motelow, Tanya Schechter, Benjamin Draiman, Eti Chitrit-Raveh, Daniel Hughes, Vaidehi Jobanputra, Sagiv Shifman, David B Goldstein, Yoav Kohn

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  • medRxiv  ·  January 10, 2023

    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.

    Heidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G Buchan, Elizabeth C. Chao, Elaine Chen, Jacob Clifford, Ana S A Cohen, Laura K Conlin, Soma Das, Kyle W Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B Hammer, Steven M Harrison, Kathryn E Hatchell, Lindsay Havens Dyer, Lily U Hoang, James M. Holt, Vaidehi Jobanputra, Izabela D Karbassi, Hutton M Kearney, Melissa A. Kelly, Jacob M. Kelly, Michelle L Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J Rasmussen, Kyle Retterer, Carol J Saunders, Elizabeth Spiteri, Christine Stanley, Anna Szuto, Ryan J Taft, Isabelle Thiffault, Brittany C Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J Tidwell, Meghan C Towne, Hana Zouk, Medical Genome Initiative

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  • Biomolecules  ·  January 9, 2023

    Genetic Predisposition to Neurological Complications in Patients with COVID-19.

    Nikhil Shri Sahajpal, Alex R Hastie, Maximilian Schieck, Ashis K Mondal, Marc Felde, Caspar I van der Made, Janet S Chou, Adrienne G Randolph, Thomas Illi, Michael C Zody, Catherine A Brownstein, Alan H Beggs, Alexander Hoischen, Alka Chaubey, Ravindra Kolhe; COVID19hostgenomesv Consortium

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  • Nature Biotechnology  ·  January 2, 2023

    Integration of whole transcriptome spatial profiling with protein markers.

    Nir Ben-Chetrit, Xiang Niu, Ariel D. Swett, Jesus Sotelo, Maria S. Jiao, Caitlin M. Stewart, Catherine Potenski, Paulius Mielinis, Patrick Roelli, Marlon Stoeckius & Dan A. Landau

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  • Cold Spring Harbor Molecular Case Studies  ·  December 28, 2022

    Whole-genome characterization of myoepithelial carcinomas of the soft tissue.

    Joanna Cyrta, Joel Rosiene, Rohan Bareja, Sarah Kudman, Wael Al Zoughbi, Samaneh Motanagh, David C Wilkes, Kenneth Eng, Tuo Zhang, Evan Sticca, Susan Mathew, Mark A Rubin, Andrea Sboner, Olivier Elemento, Brian P Rubin, Marcin Imielinski, Juan Miguel Mosquera

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  • American Journal of Medical Genetics  ·  December 23, 2022

    Detection of mosaic variants using genome sequencing in a large pediatric cohort.

    Jacqueline A. Odgis, Katie M. Gallagher, Atteeq U. Rehman, Priya N. Marathe, Katherine E. Bonini, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R. Kelly, Michelle A. Ramos, Amanda Thomas-Wilson, Saurav Guha, Volkan Okur, Mythily Ganapathi, Lama Elkhoury, Lisa Edelmann, Randi E. Zinberg, Noura S. Abul-Husn, George A. Diaz, John M. Greally, Sabrina A. Suckiel, Vaidehi Jobanputra, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein, Bruce D. Gelb

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  • Nature Methods  ·  December 22, 2022

    Efficient combinatorial targeting of RNA transcripts in single cells with Cas13 RNA Perturb-seq.

    Hans-Hermann Wessels, Alejandro Méndez-Mancilla, Yuhan Hao, Efthymia Papalexi, William M. Mauck III, Lu Lu, John A. Morris, Eleni P. Mimitou, Peter Smibert, Neville E. Sanjana & Rahul Satija

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  • Nature Biotechnology  ·  December 19, 2022

    Nanobody-tethered transposition enables multifactorial chromatin profiling at single-cell resolution.

    Tim Stuart, Stephanie Hao, Bingjie Zhang, Levan Mekerishvili, Dan A. Landau, Silas Maniatis, Rahul Satija & Ivan Raimondi

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  • Nature.  ·  December 14, 2022

    Recurrent repeat expansions in human cancer genomes.

    Graham S. Erwin*, Gamze Gürsoy*, Rashid Al-Abri, Ashwini Suriyaprakash, EgorDolzhenko, Kevin Zhu, Christian R. Hoerner, Shannon M. White, Lucia Ramirez, Ananya Vadlakonda, Alekhya Vadlakonda, Konor von Kraut, Julia Park, Charlotte M. Brannon,Daniel A. Sumano, Raushun A. Kirtikar, Alicia A. Erwin, Thomas J. Metzner, Ryan K. C.Yuen, Alice C. Fan, John T. Leppert, Michael A. Eberle, Mark Gerstein, Michael P. Snyder

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  • JCO Precision Oncology  ·  December 8, 2022

    Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.

    Edwin Cuppen, Olivier Elemento, Richard Rosenquist, Svetlana Nikic, Maarten IJzerman, Isabelle Durand Zaleski, Geert Frederix, Lars-Åke Levin, Charles G Mullighan, Reinhard Buettner, Trevor J Pugh, Sean Grimmond, Carlos Caldas, Fabrice Andre, Ilse Custers, Elias Campo, Hans van Snellenberg, Anna Schuh, Hidewaki Nakagawa, Christof von Kalle, Torsten Haferlach, Stefan Fröhling, Vaidehi Jobanputra

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