Sheng Chih Jin

Sheng Chih Jin

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Sheng Chih Jin

Sheng Chih Jin

Publications by authors named "Sheng Chih Jin"

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33Publications

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EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.

Trends Mol Med 2019 04 25;25(4):265-286. Epub 2019 Feb 25.

Department of Neurosurgery, Yale School of Medicine, New Haven CT, USA; Department of Pediatrics, Yale School of Medicine, New Haven CT, USA; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven CT, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molmed.2019.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456402PMC
April 2019

Unique features in the intracellular transport of typhoid toxin revealed by a genome-wide screen.

PLoS Pathog 2019 04 5;15(4):e1007704. Epub 2019 Apr 5.

Department of Microbial Pathogenesis, Yale University School of Medicine, New Haven, Connecticut, United States of America.

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http://dx.doi.org/10.1371/journal.ppat.1007704DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469816PMC
April 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 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

Human Genetics and Molecular Mechanisms of Congenital Hydrocephalus.

World Neurosurg 2018 Nov 8;119:441-443. Epub 2018 Sep 8.

Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut, USA; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, Connecticut, USA; Department of Neurosurgery, Pediatrics, and Cellular & Molecular Physiology, Yale School of Medicine, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1016/j.wneu.2018.09.018DOI Listing
November 2018

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

De novo mutation in congenital scalp hemangioma.

Cold Spring Harb Mol Case Stud 2018 08 1;4(4). Epub 2018 Aug 1.

Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut 06519, USA.

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http://dx.doi.org/10.1101/mcs.a002998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071566PMC
August 2018

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of .

Cold Spring Harb Mol Case Stud 2018 06 1;4(3). Epub 2018 Jun 1.

Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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http://dx.doi.org/10.1101/mcs.a002766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983176PMC
June 2018

Alzheimer's disease-associated TREM2 variants exhibit either decreased or increased ligand-dependent activation.

Alzheimers Dement 2017 Apr 9;13(4):381-387. Epub 2016 Aug 9.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2016.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5299056PMC
April 2017

Digenic mutations of human paralogs in Dent's disease type 2 associated with Chiari I malformation.

Hum Genome Var 2016 8;3:16042. Epub 2016 Dec 8.

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA; Department of Cellular & Molecular Physiology, Yale School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1038/hgv.2016.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5143364PMC
December 2016

Pooled-DNA Sequencing for Elucidating New Genomic Risk Factors, Rare Variants Underlying Alzheimer's Disease.

Methods Mol Biol 2016 ;1303:299-314

Department of Psychiatry, Washington University School of Medicine, 660 South Euclid Avenue B8134, St. Louis, MO, 63110, USA.

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http://link.springer.com/content/pdf/10.1007%2F978-1-4939-26
Web Search
http://link.springer.com/10.1007/978-1-4939-2627-5_18
Publisher Site
http://dx.doi.org/10.1007/978-1-4939-2627-5_18DOI Listing
April 2016

Coding variants in TREM2 increase risk for Alzheimer's disease.

Hum Mol Genet 2014 Nov 4;23(21):5838-46. Epub 2014 Jun 4.

Department of Psychiatry, Washington University School of Medicine, 660 S. Euclid Ave. B8134, St. Louis, MO 63110, USA, Hope Center Program on Protein Aggregation and Neurodegeneration and

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http://dx.doi.org/10.1093/hmg/ddu277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189899PMC
November 2014

TREM2 is associated with the risk of Alzheimer's disease in Spanish population.

Neurobiol Aging 2013 Jun 5;34(6):1711.e15-7. Epub 2013 Feb 5.

Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.12.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3596468PMC
June 2013

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.

Alzheimers Res Ther 2012 Aug 20;4(4):34. Epub 2012 Aug 20.

Department of Psychiatry, Washington University School of Medicine, 660 South Euclid Avenue B8134, St, Louis, MO 63110, USA.

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http://dx.doi.org/10.1186/alzrt137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506948PMC
August 2012