Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

by Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal
Published 2018-07-01

8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer

by William D. Dupont, Joan P. Breyer, W. Dale Plummer, Sam S. Chang, Michael S. Cookson, Joseph A. Smith, University of Washington Center for Mendelian Genomics, Elizabeth E. Blue, Michael J. Bamshad, Jeffrey R. Smith
Published 2020-03-01

Three main mutational pathways in HIV-2 lead to high-level raltegravir and elvitegravir resistance: implications for emerging HIV-2 treatment regimens.

by Robert A Smith, Dana N Raugi, Charlotte Pan, Matthew Coyne, Alexandra Hernandez, Brad Church, Kara Parker, James I Mullins, Papa Salif Sow, Geoffrey S Gottlieb, University of Washington-Dakar HIV-2 Study Group
Published 2012-01-01

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

by Beate Peter, Ellen M Wijsman, Alejandro Q Nato, University of Washington Center for Mendelian Genomics, Mark M Matsushita, Kathy L Chapman, Ian B Stanaway, John Wolff, Kaori Oda, Virginia B Gabo, Wendy H Raskind
Published 2016-01-01

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease

by Fadi I. Musfee, Dongchuan Guo, Amélie C. Pinard, Ellen M. Hostetler, Elizabeth E. Blue, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics (UW‐CMG), Michael J. Bamshad, Dianna M. Milewicz, Siddharth K. Prakash
Published 2020-10-01

Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia

by Aki Ushiki, Yichi Zhang, Chenling Xiong, Jingjing Zhao, Ilias Georgakopoulos-Soares, Lauren Kane, Kirsty Jamieson, Michael J. Bamshad, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Yin Shen, Laura A. Lettice, Elizabeth Lemos Silveira-Lucas, Florence Petit, Nadav Ahituv
Published 2021-04-01

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

by Anna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G. M. Bosch, Deborah Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Maartje van de Vorst, Nanna Dahl Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P. M. Cremers, Lisbeth Tranebjærg
Published 2017-12-01

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

by Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci
Published 2020-11-01

Haploinsufficiency of SF3B2 causes craniofacial microsomia

by Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, University of Washington Center for Mendelian Genomics, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V. Luquetti
Published 2021-08-01

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

by Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler
Published 2019-10-01

Service, slavery (utumwa) and Swahili social reality.

by Eastman, Carol M.
Published 2012

The Cuban quarantine : an analysis of the justification offered by the United States.

by Pollman, Eugene Lawrence
Published 2014

Communist and nationalist.

by Kellogg, Edward F.
Published 2012

Toward European stalemate: the post-Khrushchev collective leadership and Soviet youth.

by Johannes, Richard N.
Published 2012

Use of new industrial coatings for the U.S. Navy waterfront structures

by Bedard, Matthew.
Published 2012

Lexicalist Grammar and Japanese Passives

by Hasegawa, Nobuko
Published 1981

Fringe Types and KOS Systematics: Examining the Limits of the Population Perspective of Knowledge Organization Systems

by Tennis, Joseph T.
Published 2009

Naval Station Everett Small Craft Piers Delta and Echo replace or repair analysis with recommendations

by Leppard, Benjamin.
Published 2012

Fiber reinforced polymer strengthening in construction materials

by Lorenzana, Chad.
Published 2012