PMC Links for Books (Select 4488570) - PMC

Select item 57832981.

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

Nisha Patel, Deepti Anand, Dorota Monies, Sateesh Maddirevula, Arif O. Khan, Talal Algoufi, Mohammed Alowain, Eissa Faqeih, Muneera Alshammari, Ahmed Qudair, Hadeel Alsharif, Fatimah Aljubran, Hessa S. Alsaif, Niema Ibrahim, Firdous M. Abdulwahab, Mais Hashem, Haifa Alsedairy, Mohammed A. Aldahmesh, Salil A. Lachke, Fowzan S. Alkuraya

Hum Genet. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Hum Genet. 2017 Feb; 136(2): 205–225. Published online 2016 Nov 22. doi: 10.1007/s00439-016-1747-6

PMCID:: PMC5783298

Abstract Article PDF–888K

Select item 47855642.

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

Eri Imagawa, Ryoko Fukai, Mahdiyeh Behnam, Manisha Goyal, Narges Nouri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Mansour Salehi, Seema Kapoor, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

Hum Genome Var. 2015; 2: 15034. Published online 2015 Sep 17. doi: 10.1038/hgv.2015.34

PMCID:: PMC4785564

Abstract Article PDF–452K

Select item 47431973.

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos, Lennart F. Johansson, Anthonie J. van Essen, Johanna B. G. M. Verheij, Hermine E. Veenstra-Knol, Egbert J. W. Redeker, Marcel M. A. M. Mannens, Morris A. Swertz, Behrooz Z. Alizadeh, Conny M. A. van Ravenswaaij-Arts, Richard J. Sinke, Birgit Sikkema-Raddatz

BMC Med Genomics. 2016; 9: 7. Published online 2016 Feb 4. doi: 10.1186/s12920-016-0167-8

PMCID:: PMC4743197

Abstract Article PDF–481K

Select item 46325054.

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

Mark T. Handley, Sarah M. Carpanini, Girish R. Mali, Duska J. Sidjanin, Irene A. Aligianis, Ian J. Jackson, David R. FitzPatrick

Open Biol. 2015 Jun; 5(6): 150047. Published online 2015 Jun 10. doi: 10.1098/rsob.150047

PMCID:: PMC4632505

Abstract Article PDF–1.2M

Select item 43901435.

A highly conserved program of neuronal microexons is misregulated in autistic brains

Manuel Irimia, Robert J. Weatheritt, Jonathan Ellis, Neelroop N. Parikshak, Thomas Gonatopoulos-Pournatzis, Mariana Babor, Mathieu Quesnel-Vallières, Javier Tapial, Bushra Raj, Dave O’Hanlon, Miriam Barrios-Rodiles, Michael J.E. Sternberg, Sabine P. Cordes, Frederick P. Roth, Jeffrey L. Wrana, Daniel H. Geschwind, Benjamin J. Blencowe

Cell. Author manuscript; available in PMC 2015 Dec 18.

Published in final edited form as: Cell. 2014 Dec 18; 159(7): 1511–1523. doi: 10.1016/j.cell.2014.11.035

PMCID:: PMC4390143

Abstract Article PDF–2.1M

Select item 42553136.

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Sarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, David Dyment, Amanda Smith, Jodi Warman Chardon, Grace Yoon, Guy A Rouleau, Oksana Suchowersky, Victoria Siu, Lisa Murphy, Robert A Hegele, Christian R Marshall, Dennis E Bulman, Jacek Majewski, Mark Tarnopolsky, Kym M Boycott

Hum Mutat. 2014 Jan; 35(1): 45–49. Published online 2013 Oct 1. doi: 10.1002/humu.22451

PMCID:: PMC4255313

Abstract Article PDF–143K

Select item 42247547.

Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

Sylvie Picker-Minh, Andreas Busche, Britta Hartmann, Birgit Spors, Eva Klopocki, Christoph Hübner, Denise Horn, Angela M Kaindl

Orphanet J Rare Dis. 2014; 9: 113. Published online 2014 Oct 21. doi: 10.1186/s13023-014-0113-9

PMCID:: PMC4224754

Abstract Article PDF–860K

Select item 40507248.

Rab18 and a Rab18 GEF complex are required for normal ER structure

Andreas Gerondopoulos, Ricardo Nunes Bastos, Shin-ichiro Yoshimura, Rachel Anderson, Sarah Carpanini, Irene Aligianis, Mark T. Handley, Francis A. Barr

J Cell Biol. 2014 Jun 9; 205(5): 707–720. doi: 10.1083/jcb.201403026

PMCID:: PMC4050724

Abstract Article PDF–4.2M

Select item 38529269.

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, Stephen Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah J. Morris-Rosendahl, Sarah Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M.H. Abdel-Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, Duska J. Sidjanin

Am J Hum Genet. 2013 Dec 5; 93(6): 1001–1014. doi: 10.1016/j.ajhg.2013.10.011

PMCID:: PMC3852926

Abstract Article PDF–2.8M

Select item 353561210.

Catalytic mechanism of a mammalian Rab·RabGAP complex in atomic detail

Konstantin Gavriljuk, Emerich-Mihai Gazdag, Aymelt Itzen, Carsten Kötting, Roger S. Goody, Klaus Gerwert

Proc Natl Acad Sci U S A. 2012 Dec 26; 109(52): 21348–21353. Published online 2012 Dec 12. doi: 10.1073/pnas.1214431110

PMCID:: PMC3535612

Abstract Article PDF–818K

Select item 314578111.

Rab18 Dynamics in Adipocytes in Relation to Lipogenesis, Lipolysis and Obesity

Marina R. Pulido, Alberto Diaz-Ruiz, Yolanda Jiménez-Gómez, Socorro Garcia-Navarro, Francisco Gracia-Navarro, Francisco Tinahones, José López-Miranda, Gema Frühbeck, Rafael Vázquez-Martínez, Maria M. Malagón

PLoS One. 2011; 6(7): e22931. Published online 2011 Jul 28. doi: 10.1371/journal.pone.0022931

PMCID:: PMC3145781

Abstract Article PDF–605K

Select item 307192012.

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Danai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, Frances F. Bond, Manju A. Kurian, Fatima Rahman, Mark T.W. Handley, Yavor Hadzhiev, Imran Masood, Ania A. Straatman-Iwanowska, Andrew R. Cullinane, Alisdair McNeill, Shanaz S. Pasha, Gail A. Kirby, Katharine Foster, Zubair Ahmed, Jenny E. Morton, Denise Williams, John M. Graham, William B. Dobyns, Lydie Burglen, John R. Ainsworth, Paul Gissen, Ferenc Müller, Eamonn R. Maher, Francis A. Barr, Irene A. Aligianis

Am J Hum Genet. 2011 Apr 8; 88(4): 499–507. doi: 10.1016/j.ajhg.2011.03.012

Correction in:: Am J Hum Genet. 2011 May 13; 88(5): 678.

PMCID:: PMC3071920

Abstract Article PDF–1.1M

Select item 298744813.

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

Deborah J Morris-Rosendahl, Reeval Segel, A Peter Born, Christoph Conrad, Bart Loeys, Susan Sklower Brooks, Laura Müller, Christine Zeschnigk, Christina Botti, Ron Rabinowitz, Gökhan Uyanik, Marc-Antoine Crocq, Uwe Kraus, Ingrid Degen, Fran Faes

Eur J Hum Genet. 2010 Oct; 18(10): 1100–1106. Published online 2010 May 26. doi: 10.1038/ejhg.2010.79

PMCID:: PMC2987448

Abstract Article PDF–740K

Select item 142469614.

Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

Irene A. Aligianis, Neil V. Morgan, Marina Mione, Colin A. Johnson, Elisabeth Rosser, Raoul C. Hennekam, Gill Adams, Richard C. Trembath, Daniela T. Pilz, Neil Stoodley, Anthony T. Moore, Steve Wilson, Eamonn R. Maher

Am J Hum Genet. 2006 Apr; 78(4): 702–707. Published online 2006 Feb 14. doi: 10.1086/502681

PMCID:: PMC1424696

Abstract Article PDF–2.0M

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