Publications by authors named "Yue Si"

30Publications

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

Eur J Med Genet 2020 Sep 16;63(12):104063. Epub 2020 Sep 16.

ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories and Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA; Clinical Genomics Program, GeneDx, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104063DOI Listing
September 2020

Expanding the clinical and genetic spectrum of PCYT2-related disorders.

Brain 2020 Sep;143(9):e76

Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1093/brain/awaa229DOI Listing
September 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Nonclassical Biofilms Induced by DNA Breaks in Klebsiella pneumoniae.

mSphere 2020 06 10;5(3). Epub 2020 Jun 10.

State Key Laboratory of Pathogen and Biosecurity, Beijing Institute of Biotechnology, Beijing, China

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http://dx.doi.org/10.1128/mSphere.00336-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289706PMC
June 2020

A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease.

J Inherit Metab Dis 2020 May 7. Epub 2020 May 7.

Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.

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http://dx.doi.org/10.1002/jimd.12248DOI Listing
May 2020

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.

Am J Hum Genet 2020 04 19;106(4):438-452. Epub 2020 Mar 19.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France; Centre National de la Recherche Scientifique, UMR7104, Illkirch 67400, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch 67400, France; Université de Strasbourg, Illkirch 67400, France; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg 67000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118572PMC
April 2020

Reply: IREB2-associated neurodegeneration.

Brain 2019 08;142(8):e41

Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/brain/awz185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658843PMC
August 2019

Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.

Brain 2019 05;142(5):1195-1202

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1093/brain/awz072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6487337PMC
May 2019

Ring compression suture for controlling post-partum hemorrhage during cesarean section.

J Obstet Gynaecol Res 2018 Aug 10;44(8):1424-1430. Epub 2018 May 10.

Department of Obstetrics and Gynecology, Beijing Fengtai Hospital, Affiliated Capital Medical University, Beijing, China.

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http://dx.doi.org/10.1111/jog.13676DOI Listing
August 2018

Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine.

Expert Rev Mol Diagn 2018 05 23;18(5):411-421. Epub 2018 Apr 23.

a ARUP Laboratories and Department of Pathology , University of Utah School of Medicine , Salt Lake City , UT , USA.

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http://dx.doi.org/10.1080/14737159.2018.1461561DOI Listing
May 2018

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

Neurology 2016 Sep 24;87(11):1131-9. Epub 2016 Aug 24.

From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000003095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027803PMC
September 2016

CCR2 mediates hematopoietic stem and progenitor cell trafficking to sites of inflammation in mice.

J Clin Invest 2010 Apr 15;120(4):1192-203. Epub 2010 Mar 15.

Gladstone Institute of Cardiovascular Disease, San Francisco, California 94158, USA.

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http://dx.doi.org/10.1172/JCI40310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846049PMC
April 2010

Overnight transduction with foamyviral vectors restores the long-term repopulating activity of Fancc-/- stem cells.

Blood 2008 Dec 6;112(12):4458-65. Epub 2008 Aug 6.

Departments of Microbiology and Immunology, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine,Indianapolis, USA.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2007-07-10
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http://dx.doi.org/10.1182/blood-2007-07-102947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597121PMC
December 2008

The vertical distributions of VOCs in the atmosphere of Beijing in autumn.

Sci Total Environ 2008 Feb 31;390(1):97-108. Epub 2007 Oct 31.

Institute of Atmospheric Physics, Chinese Academy of Sciences, LAPC, Beijing 100029, China.

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http://dx.doi.org/10.1016/j.scitotenv.2007.08.035DOI Listing
February 2008

Critical roles for CCR2 and MCP-3 in monocyte mobilization from bone marrow and recruitment to inflammatory sites.

J Clin Invest 2007 Apr 15;117(4):902-9. Epub 2007 Mar 15.

Gladstone Institute of Cardiovascular Disease, UCSF, San Francisco, California 94158, USA.

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http://dx.doi.org/10.1172/JCI29919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1810572PMC
April 2007

Continuous in vivo infusion of interferon-gamma (IFN-gamma) enhances engraftment of syngeneic wild-type cells in Fanca-/- and Fancg-/- mice.

Blood 2006 Dec 31;108(13):4283-7. Epub 2006 Aug 31.

Department of Microbiology and Immunology, Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, USA.

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http://dx.doi.org/10.1182/blood-2006-03-007997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1895443PMC
December 2006

Heat-shock treatment-mediated increase in transduction by recombinant adeno-associated virus 2 vectors is independent of the cellular heat-shock protein 90.

J Biol Chem 2004 Mar 7;279(13):12714-23. Epub 2004 Jan 7.

Department of Microbiology and Immunology, Walther Oncology Center, Walther Cancer Institute, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.1074/jbc.M310548200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1987378PMC
March 2004

Profiling of differentially expressed apoptosis-related genes by cDNA arrays in human cord blood CD34+ cells treated with etoposide.

Exp Hematol 2003 Mar;31(3):251-60

Department of Microbiology and Immunology, Walther Oncology Center, Indiana University School of Medicine, Indianapolis, Ind 46202-5254, USA.

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http://dx.doi.org/10.1016/s0301-472x(02)01083-4DOI Listing
March 2003