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Items: 1 to 20 of 24

1.
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy
Tim W. Rattay, Maren Rautenberg, Anne S. Söhn, Holger Hengel, Andreas Traschütz, Benjamin Röben, Stefanie N. Hayer, Rebecca Schüle, Sarah Wiethoff, Lena Zeltner, Tobias B. Haack, Alexander Cegan, Ludger Schöls, Erwin Schleicher, Andreas Peter
Sci Rep. 2020; 10: 15093. Published online 2020 Sep 15. doi: 10.1038/s41598-020-71248-8
PMCID:
PMC7494896
ArticlePubReaderPDF–2.6MCite
2.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
Hilde Van Esch, Rita Colnaghi, Kathleen Freson, Petro Starokadomskyy, Andreas Zankl, Liesbeth Backx, Iga Abramowicz, Emily Outwin, Luis Rohena, Claire Faulkner, Gary M. Leong, Ruth A. Newbury-Ecob, Rachel C. Challis, Katrin Õunap, Jacques Jaeken, Eve Seuntjens, Koen Devriendt, Ezra Burstein, Karen J. Low, Mark O’Driscoll
Am J Hum Genet. 2019 May 2; 104(5): 957–967. Published online 2019 Apr 18. doi: 10.1016/j.ajhg.2019.03.006
PMCID:
PMC6506757
ArticlePubReaderPDF–1.5MCite
3.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism
Ash Zawerton, Baojin Yao, J. Paige Yeager, Tommaso Pippucci, Abdul Haseeb, Joshua D. Smith, Lisa Wischmann, Susanne J. Kühl, John C.S. Dean, Daniela T. Pilz, Susan E. Holder, Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, Alisdair McNeill, Claudio Graziano, Véronique Lefebvre
Am J Hum Genet. 2019 Feb 7; 104(2): 246–259. Published online 2019 Jan 17. doi: 10.1016/j.ajhg.2018.12.014
Correction in:
Am J Hum Genet. 2019 Apr 4; 104(4): 777.
PMCID:
PMC6369454
ArticlePubReaderPDF–3.1MCite
4.
The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders
Meera E. Modi, Mustafa Sahin
Clin Pharmacol Ther. Author manuscript; available in PMC 2019 Oct 1.
Published in final edited form as: Clin Pharmacol Ther. 2018 Oct; 104(4): 603–606. Published online 2018 Aug 12. doi: 10.1002/cpt.1181
PMCID:
PMC6175613
ArticlePubReaderPDF–85KCite
5.
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C
Laila C. Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles Schwartz, Bekim Sadikovic
Clin Epigenetics. 2018; 10: 21. Published online 2018 Feb 14. doi: 10.1186/s13148-018-0453-8
PMCID:
PMC5813334
ArticlePubReaderPDF–1.6MCite
6.
A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases
Daniel Greene, NIHR BioResource, Sylvia Richardson, Ernest Turro
Am J Hum Genet. 2017 Jul 6; 101(1): 104–114. Published online 2017 Jun 29. doi: 10.1016/j.ajhg.2017.05.015
PMCID:
PMC5501869
ArticlePubReaderPDF–963KCite
7.
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome
Laila C. Schenkel, Kristin D. Kernohan, Arran McBride, Ditta Reina, Amanda Hodge, Peter J. Ainsworth, David I. Rodenhiser, Guillaume Pare, Nathalie G. Bérubé, Cindy Skinner, Kym M. Boycott, Charles Schwartz, Bekim Sadikovic
Epigenetics Chromatin. 2017; 10: 10. Published online 2017 Mar 10. doi: 10.1186/s13072-017-0118-4
PMCID:
PMC5345252
ArticlePubReaderPDF–1.6MCite
8.
Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis
Miyuki Kinebuchi, Akihiro Matsuura, Tohru Kiyono, Yumiko Nomura, Sachiko Kimura
Sci Rep. 2016; 6: 33247. Published online 2016 Sep 15. doi: 10.1038/srep33247
PMCID:
PMC5024095
ArticlePubReaderPDF–3.4MCite
9.
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders
Hille Fieten, Yadvinder Gill, Alan J. Martin, Mafalda Concilli, Karen Dirksen, Frank G. van Steenbeek, Bart Spee, Ted S. G. A. M. van den Ingh, Ellen C. C. P. Martens, Paola Festa, Giancarlo Chesi, Bart van de Sluis, Roderick H. J. H. Houwen, Adrian L. Watson, Yurii S. Aulchenko, Victoria L. Hodgkinson, Sha Zhu, Michael J. Petris, Roman S. Polishchuk, Peter A. J. Leegwater, Jan Rothuizen
Dis Model Mech. 2016 Jan 1; 9(1): 25–38. doi: 10.1242/dmm.020263
PMCID:
PMC4728329
ArticlePubReaderCite
10.
Relative Efficiencies of Plasma Catechol Levels and Ratios for Neonatal Diagnosis of Menkes Disease
David S. Goldstein, Courtney S. Holmes, Stephen G. Kaler
Neurochem Res. Author manuscript; available in PMC 2012 Oct 21.
Published in final edited form as: Neurochem Res. 2009 Aug; 34(8): 1464–1468. Published online 2009 Feb 21. doi: 10.1007/s11064-009-9933-8
PMCID:
PMC3477515
ArticlePubReaderPDF–1.1MCite
11.
Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts
Lyudmyla G. Glushakova, Sharon Judge, Alex Cruz, Deena Pourang, Clayton E. Mathews, Peter W. Stacpoole
Mol Genet Metab. Author manuscript; available in PMC 2012 Nov 1.
Published in final edited form as: Mol Genet Metab. 2011 Nov; 104(3): 255–260. Published online 2011 Jul 28. doi: 10.1016/j.ymgme.2011.07.023
PMCID:
PMC3205311
ArticlePubReaderPDF–1.0MCite
12.
Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder
Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R. Magalhaes, Catarina Correia, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Gary D. Bader, Anthony J. Bailey, Gillian Baird, Agatino Battaglia, Tom Berney, Nadia Bolshakova, Sven Bölte, Patrick F. Bolton, Thomas Bourgeron, Sean Brennan, Jessica Brian, Susan E. Bryson, Andrew R. Carson, Guillermo Casallo, Jillian Casey, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Geraldine Dawson, Maretha de Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Ana Filipa, Susan E. Folstein, Eric Fombonne, Christine M. Freitag, John Gilbert, Christopher Gillberg, Joseph T. Glessner, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Hakon Hakonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer L. Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara M. Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett L. Leventhal, Anath C. Lionel, Xiao-Qing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala K. Mirza, Jeff Munson, Stanley F. Nelson, Carolyn Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Katerina Papanikolaou, Jeremy R. Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Marion Pilorge, Joseph Piven, Chris P. Ponting, David J. Posey, Annemarie Poustka, Fritz Poustka, Aparna Prasad, Jiannis Ragoussis, Katy Renshaw, Jessica Rickaby, Wendy Roberts, Kathryn Roeder, Bernadette Roge, Michael L. Rutter, Laura J. Bierut, John P. Rice, SAGE Consortium, Jeff Salt, Katherine Sansom, Daisuke Sato, Ricardo Segurado, Lili Senman, Naisha Shah, Val C. Sheffield, Latha Soorya, Inês Sousa, Olaf Stein, Vera Stoppioni, Christina Strawbridge, Raffaella Tancredi, Katherine Tansey, Bhooma Thiruvahindrapduram, Ann P. Thompson, Susanne Thomson, Ana Tryfon, John Tsiantis, Herman Van Engeland, John B. Vincent, Fred Volkmar, Simon Wallace, Kai Wang, Zhouzhi Wang, Thomas H. Wassink, Caleb Webber, Kirsty Wing, Kerstin Wittemeyer, Shawn Wood, Jing Wu, Brian L. Yaspan, Danielle Zurawiecki, Lonnie Zwaigenbaum, Joseph D. Buxbaum, Rita M. Cantor, Edwin H. Cook, Hilary Coon, Michael L. Cuccaro, Bernie Devlin, Sean Ennis, Louise Gallagher, Daniel H. Geschwind, Michael Gill, Jonathan L. Haines, Joachim Hallmayer, Judith Miller, Anthony P. Monaco, John I. Nurnberger, Jr., Andrew D. Paterson, Margaret A. Pericak-Vance, Gerard D. Schellenberg, Peter Szatmari, Astrid M. Vicente, Veronica J. Vieland, Ellen M. Wijsman, Stephen W. Scherer, James S. Sutcliffe, Catalina Betancur
Nature. Author manuscript; available in PMC 2011 Jan 16.
Published in final edited form as: Nature. 2010 Jul 15; 466(7304): 368–372. Published online 2010 Jun 9. doi: 10.1038/nature09146
PMCID:
PMC3021798
ArticlePubReaderPDF–458KCite
13.
Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes
Dag H. Yasui, Sailaja Peddada, Mark C. Bieda, Roxanne O. Vallero, Amber Hogart, Raman P. Nagarajan, Karen N. Thatcher, Peggy J. Farnham, Janine M. LaSalle
Proc Natl Acad Sci U S A. 2007 Dec 4; 104(49): 19416–19421. Published online 2007 Nov 27. doi: 10.1073/pnas.0707442104
PMCID:
PMC2148304
ArticlePubReaderPDF–1.0MCite
14.
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
Ye Wu, Amy C. Arai, Gavin Rumbaugh, Anand K. Srivastava, Gillian Turner, Takashi Hayashi, Erika Suzuki, Yuwu Jiang, Lilei Zhang, Jayson Rodriguez, Jackie Boyle, Patrick Tarpey, F. Lucy Raymond, Joke Nevelsteen, Guy Froyen, Mike Stratton, Andy Futreal, Jozef Gecz, Roger Stevenson, Charles E. Schwartz, David Valle, Richard L. Huganir, Tao Wang
Proc Natl Acad Sci U S A. 2007 Nov 13; 104(46): 18163–18168. Published online 2007 Nov 7. doi: 10.1073/pnas.0708699104
PMCID:
PMC2084314
ArticlePubReaderPDF–951KCite
15.
Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX
Anthony Argentaro, Ji-Chun Yang, Lynda Chapman, Monika S. Kowalczyk, Richard J. Gibbons, Douglas R. Higgs, David Neuhaus, Daniela Rhodes
Proc Natl Acad Sci U S A. 2007 Jul 17; 104(29): 11939–11944. Published online 2007 Jul 3. doi: 10.1073/pnas.0704057104
PMCID:
PMC1924575
ArticlePubReaderPDF–866KCite
16.
Absence of metabotropic glutamate receptor-mediated plasticity in the neocortex of fragile X mice
Brian M. Wilson, Charles L. Cox
Proc Natl Acad Sci U S A. 2007 Feb 13; 104(7): 2454–2459. Published online 2007 Feb 7. doi: 10.1073/pnas.0610875104
PMCID:
PMC1892931
ArticlePubReaderPDF–1.0MCite
17.
IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation
Frédéric Gambino, Alice Pavlowsky, Aurélie Béglé, Jean-Luc Dupont, Nadia Bahi, Raphael Courjaret, Robert Gardette, Hassen Hadjkacem, Henriette Skala, Bernard Poulain, Jamel Chelly, Nicolas Vitale, Yann Humeau
Proc Natl Acad Sci U S A. 2007 May 22; 104(21): 9063–9068. Published online 2007 May 14. doi: 10.1073/pnas.0701133104
PMCID:
PMC1885628
ArticlePubReaderPDF–2.0MCite
18.
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation
Xinsheng Nan, Jianghui Hou, Alan Maclean, Jamal Nasir, Maria Jose Lafuente, Xinhua Shu, Skirmantas Kriaucionis, Adrian Bird
Proc Natl Acad Sci U S A. 2007 Feb 20; 104(8): 2709–2714. Published online 2007 Feb 12. doi: 10.1073/pnas.0608056104
PMCID:
PMC1796997
ArticlePubReaderPDF–975KCite
19.
Genetic mapping of two new DNA markers in Xq26-q28 relative to the fragile-X syndrome locus.
R Sood, L M Mulligan, R Poon, B N White, J J Holden
Am J Hum Genet. 1990 Sep; 47(3): 395–402.
PMCID:
PMC1683857
SummaryPage BrowsePDF–1.0MCite
20.
Sequence Variation Within the Fragile X Locus
Debra J. Mathews, Carl Kashuk, Gale Brightwell, Evan E. Eichler, Aravinda Chakravarti
Genome Res. 2001 Aug; 11(8): 1382–1391. doi: 10.1101/gr.172601
PMCID:
PMC311115
ArticlePubReaderPDF–583KCite

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