PMC Links for Books (Select 5195750) - PMC

Select item 76105531.

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, William J Astle, Karyn Megy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis-Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S Burren, Kate Downes, Matthias Haimel, Salih Tuna, Timothy J Aitman, David L Bennett, Paul Calleja, Keren Carss, Mark J Caulfield, Patrick F Chinnery, Peter H Dixon, Daniel P Gale, Roger James, Ania Koziell, Michael A Laffan, Adam P Levine, Eamonn R Maher, Hugh S Markus, Joannella Morales, Nicholas W Morrell, Andrew D Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noemi B Roy, Moin A Saleem, Kenneth G C Smith, Hannah Stark, Rhea Y Y Tan, Andreas C Themistocleous, Adrian J Thrasher, Hugh Watkins, Andrew R Webster, Martin R Wilkins, Catherine Williamson, James Whitworth, Sean Humphray, David R Bentley, The NIHR BioResource Consortium, for the 100 000 Genomes Project , Nathalie Kingston, Neil Walker, John R Bradley, Sofie Ashford, Christopher J Penkett, Kathleen Freson, Kathleen E Stirrups, F Lucy Raymond, Willem H Ouwehand

Nature. Author manuscript; available in PMC 2021 Apr 7.

Published in final edited form as: Nature. 2020 Jul 1; 583(7814): 96–102. Published online 2020 Jun 24. doi: 10.1038/s41586-020-2434-2

PMCID:: PMC7610553

Abstract Article PDF–5.7M

Select item 75696992.

Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

J. Robert Harkness, Glenda M. Beaman, Keng W. Teik, Sangeet Sidhu, John A. Sayer, Heather J. Cordell, Huw B. Thomas, Katherine Wood, Helen M. Stuart, Adrian S. Woolf, William G. Newman

Kidney Int Rep. 2020 Oct; 5(10): 1823–1827. Published online 2020 Jul 14. doi: 10.1016/j.ekir.2020.07.001

PMCID:: PMC7569699

Article PDF–559K

Select item 73234793.

Genetic background of ataxia in children younger than 5 years in Finland

Erika Ignatius, Pirjo Isohanni, Max Pohjanpelto, Päivi Lahermo, Simo Ojanen, Virginia Brilhante, Eino Palin, Anu Suomalainen, Tuula Lönnqvist, Christopher J. Carroll

Neurol Genet. 2020 Aug; 6(4): e444. Published online 2020 Jun 5. doi: 10.1212/NXG.0000000000000444

PMCID:: PMC7323479

Abstract Article PDF–338K

Select item 70399964.

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Thomas Husson, François Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Richard, Valérie Drouin-Garraud, Anne-Claire Brehin, Maryam Soleimani, Romain Taton, Maud Rotharmel, Antoine Rosier, Pascal Chambon, Nathalie Le Meur, Géraldine Joly-Helas, Pascale Saugier-Veber, Anne Boland, Jean-François Deleuze, Robert Olaso, Thierry Frebourg, Gael Nicolas, Olivier Guillin, Dominique Campion

Transl Psychiatry. 2020; 10: 77. Published online 2020 Feb 24. doi: 10.1038/s41398-020-0760-7

PMCID:: PMC7039996

Abstract Article PDF–477K

Select item 65620045.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, Nabil Moghrabi, Rafiullah Rafiullah, Naif Almontashiri, Mohammed Alowain, Hamad Alzaidan, Moeen Alsayed, Shazia Subhani, Edward Cupler, Maha Faden, Amal Alhashem, Alya Qari, Aziza Chedrawi, Hisham Aldhalaan, Wesam Kurdi, Sameena Khan, Zuhair Rahbeeni, Maha Alotaibi, Ewa Goljan, Hadeel Elbardisy, Mohamed ElKalioby, Zeeshan Shah, Hibah Alruwaili, Amal Jaafar, Ranad Albar, Asma Akilan, Hamsa Tayeb, Asma Tahir, Mohammed Fawzy, Mohammed Nasr, Shaza Makki, Abdullah Alfaifi, Hanna Akleh, Suad Yamani, Dalal Bubshait, Mohammed Mahnashi, Talal Basha, Afaf Alsagheir, Musad Abu Khaled, Khalid Alsaleem, Maisoon Almugbel, Manal Badawi, Fahad Bashiri, Saeed Bohlega, Raashida Sulaiman, Ehab Tous, Syed Ahmed, Talal Algoufi, Hamoud Al-Mousa, Emadia Alaki, Susan Alhumaidi, Malak Althagafi, Hadeel Alghamdi, Malak Alghamdi, Ahmed Sahly, Shapar Nahrir, Ali Al-Ahmari, Hisham Alkuraya, Ali Almehaidib, Mohammed Abanemai, Fahad Alsohaibaini, Bandar Alsaud, Rand Arnaout, Ghada M.H. Abdel-Salam, Hasan Aldhekri, Suzan AlKhater, Khalid Alqadi, Essam Alsabban, Turki Alshareef, Khalid Awartani, Hanaa Banjar, Nada Alsahan, Ibraheem Abosoudah, Abdullah Alashwal, Wajeeh Aldekhail, Sami Alhajjar, Sulaiman Al-Mayouf, Abdulaziz Alsemari, Walaa Alshuaibi, Saeed Altala, Abdulhadi Altalhi, Salah Baz, Muddathir Hamad, Tariq Abalkhail, Badi Alenazi, Alya Alkaff, Fahad Almohareb, Fuad Al Mutairi, Mona Alsaleh, Abdullah Alsonbul, Somaya Alzelaye, Shakir Bahzad, Abdulaziz Bin Manee, Ola Jarrad, Neama Meriki, Bassem Albeirouti, Amal Alqasmi, Mohammed AlBalwi, Nawal Makhseed, Saeed Hassan, Isam Salih, Mustafa A. Salih, Marwan Shaheen, Saadeh Sermin, Shamsad Shahrukh, Shahrukh Hashmi, Ayman Shawli, Ameen Tajuddin, Abdullah Tamim, Ahmed Alnahari, Ibrahim Ghemlas, Maged Hussein, Sami Wali, Hatem Murad, Brian F. Meyer, Fowzan S. Alkuraya

Am J Hum Genet. 2019 Jun 6; 104(6): 1182–1201. Published online 2019 May 23. doi: 10.1016/j.ajhg.2019.04.011

Correction in:: Am J Hum Genet. 2019 Oct 3; 105(4): 879.

PMCID:: PMC6562004

Abstract Article PDF–546K

Select item 57013096.

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

Akemi J. Tanaka, Megan T. Cho, Rebecca Willaert, Kyle Retterer, Yuri A. Zarate, Katie Bosanko, Vikki Stefans, Kimihiko Oishi, Amy Williamson, Golder N. Wilson, Alice Basinger, Tina Barbaro-Dieber, Lucia Ortega, Susanna Sorrentino, Melissa K. Gabriel, Ilse J. Anderson, Maria J. Guillen Sacoto, Rhonda E. Schnur, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6): a002097. doi: 10.1101/mcs.a002097

PMCID:: PMC5701309

Abstract Article PDF–17M

Select item 56407237.

Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease

Fátima Lopes, Gabriela Soares, Miguel Gonçalves-Rocha, Jorge Pinto-Basto, Patrícia Maciel

Front Genet. 2017; 8: 143. Published online 2017 Oct 9. doi: 10.3389/fgene.2017.00143

PMCID:: PMC5640723

Abstract Article PDF–899K

Select item 54116888.

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases

Patrick R. Blackburn, Sarah S. Barnett, Michael T. Zimmermann, Margot A. Cousin, Charu Kaiwar, Filippo Pinto e Vairo, Zhiyv Niu, Matthew J. Ferber, Raul A. Urrutia, Duygu Selcen, Eric W. Klee, Pavel N. Pichurin

Cold Spring Harb Mol Case Stud. 2017 May; 3(3): a001743. doi: 10.1101/mcs.a001743

PMCID:: PMC5411688

Abstract Article PDF–3.6M

Select item 53618139.

Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery, Zeynep Coban-Akdemir, Tamar Harel, Jill A. Rosenfeld, Tomasz Gambin, Asbjørg Stray-Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke, Wojciech Wiszniewski, Samantha Penney, Pengfei Liu, Weimin Bi, Seema R. Lalani, Christian P. Schaaf, Michael F. Wangler, Carlos A. Bacino, Richard Alan Lewis, Lorraine Potocki, Brett H. Graham, John W. Belmont, Fernando Scaglia, Jordan S. Orange, Shalini N. Jhangiani, Theodore Chiang, Harsha Doddapaneni, Jianhong Hu, Donna M. Muzny, Fan Xia, Arthur L. Beaudet, Eric Boerwinkle, Christine M. Eng, Sharon E. Plon, V. Reid Sutton, Richard A. Gibbs, Jennifer E. Posey, Yaping Yang, James R. Lupski

Genome Med. 2017; 9: 26. Published online 2017 Mar 21. doi: 10.1186/s13073-017-0412-6

PMCID:: PMC5361813

Abstract Article PDF–1.2M

Select item 522309310.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G. Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K. Johnson, Coral G. Warr, Undiagnosed Diseases Network, Shinya Yamamoto, David R. Adams, Thomas C. Markello, William A. Gahl, Hugo J. Bellen, Michael F. Wangler, May Christine V. Malicdan

Am J Hum Genet. 2017 Jan 5; 100(1): 128–137. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.018

PMCID:: PMC5223093

Abstract Article PDF–2.2M

Select item 522306011.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

Hannah Sleven, Seth J. Welsh, Jing Yu, Mair E.A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horvath, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D. King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N. Nelson, Deciphering Developmental Disorders study, CAUSES study, Jonathan Williams, Penny Clouston, James Hagman, Andrea H. Németh

Am J Hum Genet. 2017 Jan 5; 100(1): 138–150. Published online 2016 Dec 23. doi: 10.1016/j.ajhg.2016.11.020

PMCID:: PMC5223060

Abstract Article PDF–1.3M

Select item 522302712.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Frederike Leonie Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep C. Akdemir, Matthew Bainbridge, Wu-Lin Charng, Margaret Drummond-Borg, Mohammad K. Eldomery, Ayman W. El-Hattab, Mohammed A.M. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, Richard M. Myers, Gregory M. Cooper, Kerstin Kutsche

Am J Hum Genet. 2017 Jan 5; 100(1): 117–127. Published online 2016 Dec 22. doi: 10.1016/j.ajhg.2016.11.012

PMCID:: PMC5223027

Abstract Article PDF–1.9M

Select item 454475313.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 431387114.

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov, Brian J. O’Roak, Stephan J. Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A. Stessman, Kali Witherspoon, Laura Vives, Karynne E. Patterson, Joshua D. Smith, Bryan Paeper, Deborah A. Nickerson, Jeanselle Dea, Shan Dong, Luis E. Gonzalez, Jefferey D. Mandell, Shrikant M. Mane, Michael T. Murtha, Catherine A. Sullivan, Michael F. Walker, Zainulabedin Waqar, Liping Wei, A. Jeremy Willsey, Boris Yamrom, Yoon-ha Lee, Ewa Grabowska, Ertugrul Dalkic, Zihua Wang, Steven Marks, Peter Andrews, Anthony Leotta, Jude Kendall, Inessa Hakker, Julie Rosenbaum, Beicong Ma, Linda Rodgers, Jennifer Troge, Giuseppe Narzisi, Seungtai Yoon, Michael C. Schatz, Kenny Ye, W. Richard McCombie, Jay Shendure, Evan E. Eichler, Matthew W. State, Michael Wigler

Nature. Author manuscript; available in PMC 2015 May 13.

Published in final edited form as: Nature. 2014 Nov 13; 515(7526): 216–221. Published online 2014 Oct 29. doi: 10.1038/nature13908

PMCID:: PMC4313871

Abstract Article PDF–377K

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