Publication > Page 32
  • Genetics in Medicine  ·  July 30, 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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  • Science  ·  July 20, 2023

    The genetic architecture and evolution of the human skeletal form.

    Eucharist Kun, Emily M Javan, Olivia Smith, Faris Gulamali, Javier de la Fuente, Brianna I Flynn, Kushal Vajrala, Zoe Trutner, Prakash Jayakumar, Elliot M Tucker-Drob, Mashaal Sohail, Tarjinder Singh, Vagheesh M Narasimhan

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  • Nature  ·  July 19, 2023

    An atlas of healthy and injured cell states and niches in the human kidney.

    Blue B. Lake, Rajasree Menon, Seth Winfree, Qiwen Hu, Ricardo Melo Ferreira, Kian Kalhor, Daria Barwinska, Edgar A. Otto, Michael Ferkowicz, Dinh Diep, Nongluk Plongthongkum, Amanda Knoten, Sarah Urata, Laura H. Mariani, Abhijit S. Naik, Sean Eddy, Bo Zhang, Yan Wu, Diane Salamon, James C. Williams, Xin Wang, Karol S. Balderrama, Paul J. Hoover, Evan Murray, Jamie L. Marshall, Teia Noel, Anitha Vijayan, Austin Hartman, Fei Chen, Sushrut S. Waikar, Sylvia E. Rosas, Francis P. Wilson, Paul M. Palevsky, Krzysztof Kiryluk, John R. Sedor, Robert D. Toto, Chirag R. Parikh, Eric H. Kim, Rahul Satija, Anna Greka, Evan Z. Macosko, Peter V. Kharchenko, Joseph P. Gaut, Jeffrey B. Hodgin, KPMP Consortium, Michael T. Eadon, Pierre C. Dagher, Tarek M. El-Achkar, Kun Zhang, Matthias Kretzler & Sanjay Jain

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  • Proceedings of Machine Learning Research.  ·  July 17, 2023

    Privacy-preserving patient clustering for personalized federated learning.

    Ahmed Elhussein and Gamze Gürsoy
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  • American Heart Association Journals  ·  July 7, 2023

    Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.

    Thomas Hays, Rebecca Hernan, Michele Disco, Emily L. Griffin, Nimrod Goldshtrom, Diana Vargas, Ganga Krishnamurthy, Miles Bomback, Atteeq U. Rehman, Amanda T. Wilson, Saurav Guha, Shruti Phadke, Volkan Okur, Dino Robinson, Vanessa Felice, Avinash Abhyankar, Vaidehi Jobanputra and Wendy K. Chung

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  • Nature Biotechnology  ·  July 3, 2023

    Prediction of on-target and off-target activity of CRISPR-Cas13d guide RNAs using deep learning.

    Hans-Hermann Wessels, Andrew Stirn, Alejandro Méndez-Mancilla, Eric J. Kim, Sydney K. Hart, David A. Knowles & Neville E. Sanjana

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  • Nature Aging  ·  July 3, 2023

    Spatial mapping of cellular senescence: emerging challenges and opportunities.

    Aditi U. Gurkar, Akos A. Gerencser, Ana L. Mora, Andrew C. Nelson, Anru R. Zhang, Anthony B. Lagnado, Archibald Enninful, Christopher Benz, David Furman, Delphine Beaulieu, Diana Jurk, Elizabeth L. Thompson, Fei Wu, Fernanda Rodriguez, Grant Barthel, Hao Chen, Hemali Phatnani, Indra Heckenbach, Jeffrey H. Chuang, Jeremy Horrell, Joana Petrescu, Jonathan K. Alder, Jun Hee Lee, Laura J. Niedernhofer, Manoj Kumar, Melanie Königshoff, Marta Bueno, Miiko Sokka, Morten Scheibye-Knudsen, Nicola Neretti, Oliver Eickelberg, Peter D. Adams, Qianjiang Hu, Quan Zhu, Rebecca A. Porritt, Runze Dong, Samuel Peters, Stella Victorelli, Thomas Pengo, Timur Khaliullin, Vidyani Suryadevara, Xiaonan Fu, Ziv Bar-Joseph, Zhicheng Ji & João F. Passos

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  • PLoS Genetics  ·  June 23, 2023

    Genetic regulators of sputum mucin concentration and their associations with COPD phenotypes.

    Eric Van Buren, Giorgia Radicioni, Sarah Lester, Wanda K. O’Neal, Hong Dang, Silva Kasela, Suresh Garudadri, Jeffrey L. Curtis, MeiLan K. Han, Jerry A. Krishnan, Emily S. Wan, Edwin K. Silverman, Annette Hastie, Victor E. Ortega, Tuuli Lappalainen, Martijn C. Nawijn, Maarten van den Berge, Stephanie A. Christenson, Yun Li, Michael H. Cho, Mehmet Kesimer, Samir N. P. Kelada

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  • Genetics  ·  June 22, 2023

    Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

    Jonah Einson, Dafni Glinos, Eric Boerwinkle, Peter Castaldi, Dawood Darbar, Mariza de Andrade, Patrick Ellinor, Myriam Fornage, Stacey Gabriel, Soren Germer, Richard Gibbs, Craig Hersh, Jill Johnsen, Robert Kaplan, Barbara Konkle, Charles Kooperberg, Rami Nassir, Ruth J.F. Loos, Deborah A Meyers, Braxton D. Mitchell, Bruce Psaty, Ramachandran S. Vasan, Stephen S. Rich, Michael Rienstra, Jerome I. Rotter, Aabida Saferali, M. Benjamin Shoemaker, Edwin Silverman, Albert Vernon Smith, Pejman Mohammadi, Stephane E Castel, Ivan Iossifov, Tuuli Lappalainen

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  • Wiley  ·  June 19, 2023

    Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.

    Katherine E. Bonini, Amanda Thomas-Wilson, Priya N. Marathe, Monisha Sebastin, Jacqueline A. Odgis, Miranda Di Biase, Nicole R. Kelly, Michelle A. Ramos, Beverly J. Insel, Laura Scarimbolo, Atteeq U. Rehman, Saurav Guha, Volkan Okur, Avinash Abhyankar, Shruti Phadke, Caroline Nava, Katie M. Gallagher, Lama Elkhoury, Lisa Edelmann, Randi E. Zinberg, Noura S. Abul-Husn, George A. Diaz, John M. Greally, Sabrina A. Suckiel, Carol R. Horowitz, Eimear E. Kenny, Melissa Wasserstein, Bruce D. Gelb, Vaidehi Jobanputra

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