Patrick R Blackburn

Patrick R Blackburn

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Patrick R Blackburn

Patrick R Blackburn

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth.

Mod Pathol 2019 Sep 3. Epub 2019 Sep 3.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

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http://www.nature.com/articles/s41379-019-0354-1
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http://dx.doi.org/10.1038/s41379-019-0354-1DOI Listing
September 2019

Desmoplastic Infantile Ganglioglioma: A MAPK Pathway-Driven and Microglia/Macrophage-Rich Neuroepithelial Tumor.

J Neuropathol Exp Neurol 2019 Sep 28. Epub 2019 Sep 28.

Departments of Laboratory Medicine and Pathology (MMB, PRB, EGBF, CDZ, RAJ, DM, JRB, RBJ, KCH, BRK, WRM, CMI), Health Sciences Research (AAN, JID), Pediatrics (AANR), Radiation Oncology (NNL), and Neurologic Surgery (DJD), Mayo Clinic, Rochester, Minnesota; and Departments of Pathology (CK) and Neuro-Oncology (VLH), Dell Children's Medical Center, Austin, Texas.

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http://dx.doi.org/10.1093/jnen/nlz086DOI Listing
September 2019

Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.

Neurol Neurochir Pol 2018 May - Jun;52(3):386-389. Epub 2018 Apr 11.

Department of Neurology, Mayo Clinic Florida, 4500 San Pablo Road, Jacksonville, FL 32224, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pjnns.2018.03.007DOI Listing
May 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 Mar 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

point mutations and familial intracranial aneurysms.

Neurology 2018 12 9;91(23):e2170-e2181. Epub 2018 Nov 9.

From the Department of Neuroscience (O.L.-B., C.L., K.H., P.G., A.I.S., R.L.W., O.A.R.), Center for Individualized Medicine (P.R.B., J.M.), Department of Health Sciences Research (P.R.B., Y.A.), Department of Neurology (E.E., R.V.-d-C., W.D.F., J.M.), Clinical Research Internship Study Program (P.G.), Department of Neurosurgery (D.M., W.D.F.), and Department of Clinical Genomics (O.A.R.), Mayo Clinic, Jacksonville, FL; Center for Individualized Medicine (E.W.K.), Department of Health Sciences Research (E.W.K.), Department of Laboratory Medicine and Pathology (E.W.K.), Department of Clinical Genomics (E.W.K.), and Department of Biochemistry and Molecular Biology (A.N.S., K.J.C.), Mayo Clinic, Rochester, MN; Department of Biology (K.H., O.A.R.), Basic Research Internship in Neuroscience and Cancer, University of North Florida, Jacksonville; Program in Molecular Medicine (S.D.), University of Massachusetts Medical School, Worcester; Division of Genetics (M.B.B.), Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE; and Section of Clinical Genetics & Genetic Counseling (S.J.), St. Christopher's Hospital for Children, Philadelphia, PA.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282233PMC
December 2018

TALEN-Mediated Mutagenesis and Genome Editing.

Methods Mol Biol 2016 ;1451:17-30

Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1007/978-1-4939-3771-4_2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777227PMC
January 2018

Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor.

Neurologist 2017 Nov;22(6):247-248

*Center for Individualized Medicine Departments of †Clinical Genomics ‡Neurology, Mayo Clinic, Jacksonville, FL.

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http://dx.doi.org/10.1097/NRL.0000000000000153DOI Listing
November 2017

Expanded phenotype in a patient with spastic paraplegia 7.

Clin Case Rep 2017 10 24;5(10):1620-1622. Epub 2017 Aug 24.

Center for Individualized Medicine Mayo Clinic 4500 San Pablo Road South Jacksonville Florida 32224 USA.

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http://dx.doi.org/10.1002/ccr3.1109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628248PMC
October 2017

Early-onset limb-girdle muscular dystrophy-2L in a female athlete.

Muscle Nerve 2017 05 23;55(5):E19-E21. Epub 2017 Feb 23.

Center for Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, 4500 San Pablo Road South, Jacksonville, Florida, 32224, USA.

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http://dx.doi.org/10.1002/mus.25471DOI Listing
May 2017

Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.

Am J Med Genet A 2017 May 21;173(5):1328-1333. Epub 2017 Mar 21.

Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.38113DOI Listing
May 2017

A novel frameshift deletion in in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.

Mol Genet Genomic Med 2017 Mar 26;5(2):141-146. Epub 2017 Jan 26.

Center for Individualized MedicineMayo ClinicRochesterMinnesota55901; Department of Health Science ResearchMayo ClinicRochesterMinnesota55901; Department of Clinical GenomicsMayo ClinicRochesterMinnesota55901; Department of Laboratory Medicine and PathologyMayo ClinicRochesterMinnesota55901.

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http://doi.wiley.com/10.1002/mgg3.268
Publisher Site
http://dx.doi.org/10.1002/mgg3.268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370226PMC
March 2017

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.

Case Rep Genet 2017 9;2017:7263780. Epub 2017 Jan 9.

Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.

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http://dx.doi.org/10.1155/2017/7263780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253504PMC
January 2017

Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS).

Mol Genet Metab Rep 2016 Dec 18;9:94-97. Epub 2016 Nov 18.

Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2016.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121148PMC
December 2016

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.

Clin Case Rep 2016 09 15;4(9):885-95. Epub 2016 Aug 15.

Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA; Department of Biomedical Informatics Mayo Clinic Rochester Minnesota USA; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA.

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http://dx.doi.org/10.1002/ccr3.655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018595PMC
September 2016

Holocarboxylase synthetase deficiency pre and post newborn screening.

Mol Genet Metab Rep 2016 Jun 6;7:40-4. Epub 2016 Apr 6.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, United States; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2016.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832086PMC
June 2016

Activation of P-TEFb by Androgen Receptor-Regulated Enhancer RNAs in Castration-Resistant Prostate Cancer.

Cell Rep 2016 Apr 7;15(3):599-610. Epub 2016 Apr 7.

Department of Biochemistry and Molecular Biology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA; Department of Urology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA; Mayo Clinic Cancer Center, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.03.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395199PMC
April 2016

The CRISPR system--keeping zebrafish gene targeting fresh.

Zebrafish 2013 Mar 28;10(1):116-8. Epub 2013 Mar 28.

Department of Biochemistry and Molecular Biology, Mayo Addiction Research Center, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1089/zeb.2013.9999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629780PMC
March 2013