Murat Gunel

Murat Gunel

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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

9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus.

Cold Spring Harb Mol Case Stud 2018 10 1;4(5). Epub 2018 Oct 1.

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

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http://dx.doi.org/10.1101/mcs.a003145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169828PMC
October 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

Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.

Am J Med Genet A 2018 02 11;176(2):421-425. Epub 2017 Dec 11.

Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.

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http://dx.doi.org/10.1002/ajmg.a.38558DOI Listing
February 2018

Functional differences between PD-1+ and PD-1- CD4+ effector T cells in healthy donors and patients with glioblastoma multiforme.

PLoS One 2017 7;12(9):e0181538. Epub 2017 Sep 7.

Departments of Biological Engineering and Chemical Engineering, Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0181538PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589094PMC
October 2017

gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Cold Spring Harb Mol Case Stud 2017 Sep 1;3(5). Epub 2017 Sep 1.

Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, Connecticut 06510, USA.

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http://dx.doi.org/10.1101/mcs.a001859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593152PMC
September 2017

Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination.

J Hepatol 2017 07 18;67(1):186-191. Epub 2017 Mar 18.

Department of Internal Medicine, Section of Digestive Diseases, Yale University School of Medicine, New Haven, CT, USA; VA Connecticut Healthcare System, West Haven, CT, USA.

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http://dx.doi.org/10.1016/j.jhep.2017.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5497691PMC
July 2017

Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.

J Neurosurg 2017 Jun 9;126(6):1879-1883. Epub 2016 Sep 9.

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

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http://dx.doi.org/10.3171/2016.6.JNS16665DOI Listing
June 2017

Combined HMG-COA reductase and prenylation inhibition in treatment of CCM.

Proc Natl Acad Sci U S A 2017 05 12;114(21):5503-5508. Epub 2017 May 12.

Department of Neurosurgery, Yale School of Medicine, New Haven, CT 06520;

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http://dx.doi.org/10.1073/pnas.1702942114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448170PMC
May 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

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Am J Hum Genet 2016 Nov 20;99(5):1181-1189. Epub 2016 Oct 20.

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097947PMC
November 2016

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.

Proc Natl Acad Sci U S A 2016 10 19;113(40):11289-11293. Epub 2016 Sep 19.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06517; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT 06517; Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06517; Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06517; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065

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http://dx.doi.org/10.1073/pnas.1613228113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056113PMC
October 2016

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Am J Hum Genet 2016 Aug 21;99(2):501-10. Epub 2016 Jul 21.

Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30276-2.pdf
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http://www.cell.com/cms/attachment/2062243761/2063920621/mmc
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http://dx.doi.org/10.1016/j.ajhg.2016.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974110PMC
August 2016

B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models.

J Neuroimmune Pharmacol 2016 06 16;11(2):369-77. Epub 2016 Apr 16.

Neurovascular Surgery Program, Section of Neurosurgery, Biological Sciences Division, The University of Chicago Medicine, 5841 S. Maryland Ave. MC3026/Room J341, Chicago, IL, 60637, USA.

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http://dx.doi.org/10.1007/s11481-016-9670-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746226PMC
June 2016

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.

J Hum Genet 2016 May 7;61(5):395-403. Epub 2016 Jan 7.

Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1038/jhg.2015.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880488PMC
May 2016

Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

Am J Med Genet A 2016 May 8;170A(5):1187-95. Epub 2016 Jan 8.

Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.

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http://dx.doi.org/10.1002/ajmg.a.37543DOI Listing
May 2016

PD-1 marks dysfunctional regulatory T cells in malignant gliomas.

JCI Insight 2016 Apr;1(5)

Departments of Neurology and Immunobiology, Yale School of Medicine, New Haven, Connecticut, USA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1172/jci.insight.85935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864991PMC
April 2016

Functional synergy between cholecystokinin receptors CCKAR and CCKBR in mammalian brain development.

PLoS One 2015 15;10(4):e0124295. Epub 2015 Apr 15.

Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut, United States of America; Yale Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut, United States of America; Department of Neurobiology, Yale School of Medicine, New Haven, Connecticut, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0124295PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4398320PMC
January 2016

Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.

Neuro Oncol 2015 Oct 3;17(10):1356-64. Epub 2015 Mar 3.

Department of Neurosurgery, Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, Connecticut (E.Z.E.-O., A.O.Ç., S.B.O., A.S.H., V.C., G.C.-G., J.B., C.Ç., T.B., S.C., B.B., M.B., J.M.G., K.M.-G., K.B., K.Y., M.G.); Department of Genetics, Yale School of Medicine, New Haven, Connecticut (K.B., M.G.); Computational Biology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York (N.S., N.W., C.S.); Department of Neurosurgery, Acıbadem University School of Medicine, Istanbul, Turkey (K.O., M.N.P.); Division of Hematology and Oncology, Faculty of Medicine, Department of Pediatrics, Selçuk University, Konya, Turkey (Y.K., D.K.); Department of Pathology, Yale School of Medicine, New Haven, Connecticut (J.L., J.S., A.V., A.J.H.).

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http://dx.doi.org/10.1093/neuonc/nov027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4578578PMC
October 2015

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.

Glycobiology 2015 Aug 21;25(8):836-44. Epub 2015 Apr 21.

Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Medical Research Institute, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA

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https://academic.oup.com/glycob/article-lookup/doi/10.1093/g
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http://dx.doi.org/10.1093/glycob/cwv024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487302PMC
August 2015

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation.

Pediatr Radiol 2015 Apr 26;45(5):771-6. Epub 2014 Sep 26.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Cerrahpaşa Tıp Fakültesi, Çocuk kliniği, Cerrahpaşa, Istanbul, Turkey,

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http://link.springer.com/content/pdf/10.1007/s00247-014-3159
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http://link.springer.com/10.1007/s00247-014-3159-x
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http://dx.doi.org/10.1007/s00247-014-3159-xDOI Listing
April 2015

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

Eur J Med Genet 2015 Jan 9;58(1):39-43. Epub 2014 Sep 9.

Departments of Neurosurgery, Neurobiology and Genetics, Yale Program in Neurogenetics, Yale School of Medicine, New Haven 06510, CT, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4804755PMC
January 2015

Heparin is an activating ligand of the orphan receptor tyrosine kinase ALK.

Sci Signal 2015 Jan 20;8(360):ra6. Epub 2015 Jan 20.

Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1126/scisignal.2005916DOI Listing
January 2015

Seizure control for intracranial arteriovenous malformations is directly related to treatment modality: a meta-analysis.

J Neurointerv Surg 2014 Nov 6;6(9):684-90. Epub 2013 Dec 6.

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

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http://dx.doi.org/10.1136/neurintsurg-2013-010945DOI Listing
November 2014

Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.

Rheumatol Int 2014 Nov 12;34(11):1539-44. Epub 2014 May 12.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey,

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http://dx.doi.org/10.1007/s00296-014-3037-8DOI Listing
November 2014

Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations.

J Hepatol 2014 Nov 10;61(5):1178-83. Epub 2014 Jul 10.

Department of Genetics, Yale School of Medicine, New Haven, CT 06510, United States; Department of Neurosurgery, Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, CT 06510, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2014.07.003DOI Listing
November 2014

FBXO7-R498X mutation: phenotypic variability from chorea to early onset parkinsonism within a family.

Parkinsonism Relat Disord 2014 Nov 14;20(11):1253-6. Epub 2014 Aug 14.

İstanbul University, Cerrahpaşa School of Medicine, Department of Neurology, 34098, K.M.Paşa, Istanbul, Turkey.

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http://dx.doi.org/10.1016/j.parkreldis.2014.07.016DOI Listing
November 2014

SomatiCA: identifying, characterizing and quantifying somatic copy number aberrations from cancer genome sequencing data.

PLoS One 2013 12;8(11):e78143. Epub 2013 Nov 12.

Program of Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0078143PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827077PMC
September 2014

Commentary: unruptured brain arteriovenous malformations: what a tangled web they weave.

Neurosurgery 2014 Aug;75(2):195-6

Chicago, Illinois Phoenix, Arizona Houston, Texas New York, New York New Haven, Connecticut New York, New York San Francisco, California Salt Lake City, Utah Boston, Massachusetts Newark, New Jersey.

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https://academic.oup.com/neurosurgery/article-lookup/doi/10.
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http://dx.doi.org/10.1227/NEU.0000000000000418DOI Listing
August 2014

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

Am J Med Genet A 2014 Jul 3;164A(7):1677-85. Epub 2014 Apr 3.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36514DOI Listing
July 2014

Extraction of Fronto-orbital Shower Hook through Transcranial Orbitotomy.

Craniomaxillofac Trauma Reconstr 2014 Jun 4;7(2):147-8. Epub 2014 Mar 4.

Department of Ophthalmology and Visual Sciences, Yale School of Medicine.

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http://dx.doi.org/10.1055/s-0034-1371545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078116PMC
June 2014

Ccm3, a gene associated with cerebral cavernous malformations, is required for neuronal migration.

Development 2014 Mar;141(6):1404-15

Departments of Neurosurgery and Neurobiology, Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1242/dev.093526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943187PMC
March 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Mutations in CSPP1 lead to classical Joubert syndrome.

Am J Hum Genet 2014 Jan 19;94(1):80-6. Epub 2013 Dec 19.

Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882909PMC
January 2014

Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.

Am J Med Genet A 2013 Jun 30;161A(6):1300-8. Epub 2013 Apr 30.

Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.35906DOI Listing
June 2013

Ultrastructural analysis of vascular features in cerebral cavernous malformations.

Clin Neurol Neurosurg 2013 Apr 7;115(4):438-44. Epub 2012 Jul 7.

Department of Histology and Embryology, Akdeniz University, School of Medicine, Antalya 07070, Turkey.

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http://dx.doi.org/10.1016/j.clineuro.2012.06.023DOI Listing
April 2013

Vessel wall magnetic resonance imaging identifies the site of rupture in patients with multiple intracranial aneurysms: proof of principle.

Neurosurgery 2013 Mar;72(3):492-6; discussion 496

Department of Neurosurgery, Neurovascular & Stroke Programs, Yale University School of Medicine, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1227/NEU.0b013e31827d1012DOI Listing
March 2013

CCM2 expression during prenatal development and adult human neocortex.

Int J Dev Neurosci 2011 Aug 4;29(5):509-14. Epub 2011 May 4.

Department of Histology and Embryology, Faculty of Medicine, Akdeniz University, 07070, Antalya, Turkey.

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http://dx.doi.org/10.1016/j.ijdevneu.2011.04.006DOI Listing
August 2011

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Neuron 2011 Jun;70(5):863-85

Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939065PMC
June 2011

Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology.

Proc Natl Acad Sci U S A 2011 Mar 14;108(9):3737-42. Epub 2011 Feb 14.

Department of Neurosurgery, Yale Program on Neurogenetics, Yale School of Medicine, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1073/pnas.1012617108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048113PMC
March 2011

Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).

J Child Neurol 2010 Oct 28;25(10):1265-8. Epub 2010 Jan 28.

Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1177/0883073809357241DOI Listing
October 2010

Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development.

Sci Signal 2010 Apr 6;3(116):ra26. Epub 2010 Apr 6.

Interdepartmental Program in Vascular Biology and Therapeutics, Department of Pathology, Yale University School of Medicine, 10 Amistad Street, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1126/scisignal.2000722DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3052863PMC
April 2010

Temporal expression of angiogenesis-related genes in developing neonatal rodent retina: a novel in vivo model to study cerebral vascular development.

Neurosurgery 2010 Mar;66(3):538-43; discussion 543

Laboratory of Molecular Neurosurgery, Marmara University Institute of Neurological Sciences, Istanbul, Turkey.

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http://dx.doi.org/10.1227/01.NEU.0000365615.24973.26DOI Listing
March 2010