PMC Links for Books (Select 5056200) - PMC

Select item 89008271.

Karin Weiss, Hayley P. Lazar, Alina Kurolap, Ariel Martinez, Tamar Paperna, Lior Cohen, Marie F. Smeland, Sandra Wallen, Solveig Heide, Boris Keren, Pauline Terhal, Melita Irving, Motoki Takaku, John D. Roberts, Robert M. Petrovich, Samantha A. Schrier Vergano, Amy Kenney, Hanne Hove, Elizabeth DeChene, Shane C. Quinonez, Estelle Colin, Alban Ziegler, Melissa Rumple, Mahim Jain, Danielle Monteil, Elizabeth R. Roeder, Kimberly Nugent, Arie van Haeringen, Michael Gambello, Avni Santani, Līvija Medne, Bryan Krock, Cara M. Skraban, Elaine H. Zackai, Holly A. Dubbs, Thomas Smol, Jamal Ghoumid, Michael J. Parker, Michael Wright, Peter Turnpenny, Jill Clayton-Smith, Kay Metcalfe, Hitoshi Kurumizaka, Bruce D. Gelb, Hagit Baris Feldman, Philippe M. Campeau, Maximilian Muenke, Paul A. Wade, Katherine Lachlan

Genet Med. Author manuscript; available in PMC 2022 Mar 7.

Published in final edited form as: Genet Med. 2020 Feb; 22(2): 389–397. Published online 2019 Aug 7. doi: 10.1038/s41436-019-0612-0

Correction in:: Genet Med. 2019 Dec 17

PMCID:: PMC8900827

Abstract Article PDF–1.5M

Select item 76733092.

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Amélie Pinard, Stéphanie Guey, Dongchuan Guo, Alana C. Cecchi, Natasha Kharas, Stephanie Wallace, Ellen S. Regalado, Ellen M. Hostetler, Anjail Z. Sharrief, Françoise Bergametti, Manoelle Kossorotoff, Dominique Hervé, Markus Kraemer, Michael J. Bamshad, Deborah A. Nickerson, Edward R. Smith, Elisabeth Tournier-Lasserve, Dianna M. Milewicz

Genet Med. Author manuscript; available in PMC 2020 Nov 18.

Published in final edited form as: Genet Med. 2020 Feb; 22(2): 427–431. Published online 2019 Sep 2. doi: 10.1038/s41436-019-0639-2

PMCID:: PMC7673309

Abstract Article PDF–314K

Select item 59880373.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Alejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H. Al Turki, Bernard Thienpont, Jeremy McRae, Tomas W Fitzgerald, Tarjinder Singh, Ganesh Jawahar Swaminathan, Elena Prigmore, Diana Rajan, Hashim Abdul-Khaliq, Siddharth Banka, Ulrike M. M. Bauer, Jamie Bentham, Felix Berger, Shoumo Bhattacharya, Frances Bu'Lock, Natalie Canham, Irina-Gabriela Colgiu, Catherine Cosgrove, Helen Cox, Ingo Daehnert, Allan Daly, John Danesh, Alan Fryer, Marc Gewillig, Emma Hobson, Kirstin Hoff, Tessa Homfray, The INTERVAL Study, Anne-Karin Kahlert, Ami Ketley, Hans-Heiner Kramer, Katherine Lachlan, Anne Katrin Lampe, Jacoba J. Louw, Ashok Kumar Manickara, Dorin Manase, Karen P. McCarthy, Kay Metcalfe, Carmel Moore, Ruth Newbury-Ecob, Seham Osman Omer, Willem H. Ouwehand, Soo-Mi Park, Michael J. Parker, Thomas Pickardt, Martin O. Pollard, Leema Robert, David J. Roberts, Jennifer Sambrook, Kerry Setchfield, Brigitte Stiller, Chris Thornborough, Okan Toka, Hugh Watkins, Denise Williams, Michael Wright, Seema Mital, Piers E. F. Daubeney, Bernard Keavney, Judith Goodship, The UK10K Consortium, Riyadh Mahdi Abu-Sulaiman, Sabine Klaassen, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Koenraad Devriendt, David R. FitzPatrick, J. David Brook, The Deciphering Developmental Disorders Study, Matthew Hurles

Nat Genet. Author manuscript; available in PMC 2018 Jun 5.

Published in final edited form as: Nat Genet. 2016 Sep; 48(9): 1060–1065. Published online 2016 Aug 1. doi: 10.1038/ng.3627

PMCID:: PMC5988037

Abstract Article PDF–1.1M

Select item 50656514.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Karin Weiss, Paulien A. Terhal, Lior Cohen, Michael Bruccoleri, Melita Irving, Ariel F. Martinez, Jill A. Rosenfeld, Keren Machol, Yaping Yang, Pengfei Liu, Magdalena Walkiewicz, Joke Beuten, Natalia Gomez-Ospina, Katrina Haude, Chin-To Fong, Gregory M. Enns, Jonathan A. Bernstein, Judith Fan, Garrett Gotway, Mohammad Ghorbani, DDD Study, Koen van Gassen, Glen R. Monroe, Gijs van Haaften, Lina Basel-Vanagaite, Xiang-Jiao Yang, Philippe M. Campeau, Maximilian Muenke

Am J Hum Genet. 2016 Oct 6; 99(4): 934–941. Published online 2016 Sep 8. doi: 10.1016/j.ajhg.2016.08.001

PMCID:: PMC5065651

Abstract Article PDF–1.3M

Select item 47319255.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

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