Raymond Wang

Raymond Wang

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Raymond Wang

Raymond Wang

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.

Mol Genet Metab 2019 01 8;126(1):53-63. Epub 2018 Nov 8.

Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA 92868, USA; Department of Pediatrics, University of California Irvine, Orange, CA 92868, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183059
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http://dx.doi.org/10.1016/j.ymgme.2018.11.001DOI Listing
January 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Ensuring food security with lower environmental costs under intensive agricultural land use patterns: A case study from China.

J Environ Manage 2018 May;213:329-340

Center for Chinese Public Administration Research, School of Government, Sun Yat-sen University, Guangzhou, China.

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https://linkinghub.elsevier.com/retrieve/pii/S03014797183015
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http://dx.doi.org/10.1016/j.jenvman.2018.02.048DOI Listing
May 2018

Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.

Mol Genet Metab 2018 02 13;123(2):85-91. Epub 2017 Oct 13.

Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808895PMC
February 2018

Effective Attenuation of Adenosine A1R Signaling by Neurabin Requires Oligomerization of Neurabin.

Mol Pharmacol 2017 12 27;92(6):630-639. Epub 2017 Sep 27.

Departments of Cell, Developmental, and Integrative Biology (Y.C., H.W., R.X.W., Q.W.) and Genetics (K.J.), University of Alabama, Birmingham, Alabama; Department of Pharmacology, University of California, San Diego, California (C.B., J.Z.); and Department of Neuroscience, Friedman Brain Institute, Mount Sinai School of Medicine, New York, New York (D.T., V.Z.)

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http://dx.doi.org/10.1124/mol.117.109462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676298PMC
December 2017

Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis.

JIMD Rep 2018 13;39:31-37. Epub 2017 Jul 13.

Department of Pediatrics, University of California, Irvine School of Medicine, Orange, CA, 92868, USA.

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http://dx.doi.org/10.1007/8904_2017_43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953895PMC
July 2017

Humanized mouse model for assessing the human immune response to xenogeneic and allogeneic decellularized biomaterials.

Biomaterials 2017 06 11;129:98-110. Epub 2017 Mar 11.

Department of Bioengineering, Sanford Consortium of Regenerative Medicine, University of California San Diego, 2880 Torrey Pines Scenic Drive, La Jolla, CA 92037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.biomaterials.2017.03.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5434867PMC
June 2017

A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene.

Nucleosides Nucleotides Nucleic Acids 2017 May 19;36(5):317-327. Epub 2017 Jan 19.

b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , CA , USA.

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http://dx.doi.org/10.1080/15257770.2016.1267361DOI Listing
May 2017

Diverse arrestin-recruiting and endocytic profiles of tricyclic antipsychotics acting as direct α adrenergic receptor ligands.

Neuropharmacology 2017 04 9;116:38-49. Epub 2016 Dec 9.

Department of Cell, Molecular and Developmental Biology, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuropharm.2016.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385157PMC
April 2017

Jun Dimerization Protein 2 Activates Mc2r Transcriptional Activity: Role of Phosphorylation and SUMOylation.

Int J Mol Sci 2017 Jan 31;18(2). Epub 2017 Jan 31.

Department of Biomedical Sciences, Mercer University School of Medicine, Savannah, GA 31404, USA.

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http://dx.doi.org/10.3390/ijms18020304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343840PMC
January 2017

Aortic Root Dilatation in Mucopolysaccharidosis I-VII.

Int J Mol Sci 2016 Nov 29;17(12). Epub 2016 Nov 29.

Department of Pediatrics, University of California-Irvine School of Medicine, Orange, CA 92868, USA.

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http://dx.doi.org/10.3390/ijms17122004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5187804PMC
November 2016

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs.

Heart 2016 08 21;102(16):1257-62. Epub 2016 Apr 21.

Department of Metabolic Disorders, CHOC Children's, Orange, California, USA Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, California, USA.

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http://dx.doi.org/10.1136/heartjnl-2015-309258DOI Listing
August 2016

Can centralized sanctioning promote trust in social dilemmas? A two-level trust game with incomplete information.

PLoS One 2015 16;10(4):e0124513. Epub 2015 Apr 16.

Department of Geography, The University of Hong Kong, Pokfulam, Hong Kong, Hong Kong.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0124513PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400067PMC
April 2016

Decellularized myocardial matrix hydrogels: In basic research and preclinical studies.

Adv Drug Deliv Rev 2016 Jan 6;96:77-82. Epub 2015 Jun 6.

Department of Bioengineering, Sanford Consortium of Regenerative Medicine, University of California, San Diego, 2880 Torrey Pines Scenic Drive, La Jolla, CA 92037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.addr.2015.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670814PMC
January 2016

Development of an arbitrary waveform membrane stretcher for dynamic cell culture.

Ann Biomed Eng 2014 May 29;42(5):1062-73. Epub 2014 Jan 29.

Department of Biomedical Engineering, Tufts University, 4 Colby Street, Medford, MA, 02155, USA.

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http://dx.doi.org/10.1007/s10439-014-0976-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976041PMC
May 2014

Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.

World J Pediatr 2014 Feb 25;10(1):83-5. Epub 2014 Jan 25.

Division of Metabolic Disorders, CHOC Children's Foundation, Department of Pediatrics, University of California Irvine School of Medicine, Orange, CA, USA,

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http://link.springer.com/content/pdf/10.1007/s12519-014-0458
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http://link.springer.com/10.1007/s12519-014-0458-0
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http://dx.doi.org/10.1007/s12519-014-0458-0DOI Listing
February 2014

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.

JIMD Rep 2013 19;11:99-106. Epub 2013 Apr 19.

John Welsh Cardiovascular Diagnostic Laboratory, Section of Cardiology, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1007/8904_2013_228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755548PMC
August 2013

Oil-sealed femtoliter fiber-optic arrays for single molecule analysis.

Lab Chip 2012 Jun 6;12(12):2229-39. Epub 2012 Feb 6.

Department of Chemistry, Tufts University, Medford, Massachusetts, USA.

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http://dx.doi.org/10.1039/c2lc21113kDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3419529PMC
June 2012

Homeostatic control of recombination is implemented progressively in mouse meiosis.

Nat Cell Biol 2012 Mar 4;14(4):424-30. Epub 2012 Mar 4.

Developmental Biology Program, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, New York 10065, USA.

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http://dx.doi.org/10.1038/ncb2451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319518PMC
March 2012

Carotid intima-media thickness is increased in patients with mucopolysaccharidoses.

Mol Genet Metab 2011 Dec 10;104(4):592-6. Epub 2011 Sep 10.

Division of Metabolic Disorders, Pediatric Subspecialty Faculty, CHOC Children's, Orange, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3924772PMC
December 2011

Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.

Am J Med Genet A 2011 Apr 15;155A(4):742-7. Epub 2011 Mar 15.

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.33914DOI Listing
April 2011

D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).

Hum Mutat 2010 Dec 9;31(12):1280-5. Epub 2010 Nov 9.

Labor für Klinische Biochemie & Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Germany.

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http://dx.doi.org/10.1002/humu.21375DOI Listing
December 2010

Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.

Mol Genet Metab 2009 Dec 5;98(4):406-11. Epub 2009 Aug 5.

Division of Metabolic Disorders, Pediatric Subspecialty Faculty, CHOC Children's, Orange, CA 92868, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.07.015DOI Listing
December 2009

Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

Genet Med 2007 Jan;9(1):34-45

Medical Genetics Institute, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1097GIM.0b013e31802d8321DOI Listing
January 2007

A previously unreported mutation in a Currarino syndrome kindred.

Am J Med Genet A 2006 Sep;140(18):1923-30

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.a.31420DOI Listing
September 2006

Midline defects in FG syndrome: does tethered spinal cord contribute to the phenotype?

J Pediatr 2005 Apr;146(4):537-41

Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, 444 South San Vicente Boulevard #1001, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1016/j.jpeds.2004.10.050DOI Listing
April 2005

Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach.

J Pediatr 2002 Nov;141(5):611-7

Medical Genetics-Birth Defects Center, Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1067/mpd.2002.128891DOI Listing
November 2002