Julie S Cohen

Julie S Cohen

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Julie S Cohen

Julie S Cohen

Publications by authors named "Julie S Cohen"

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33Publications

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Vigabatrin as a Targeted Treatment of GABA Receptor-Related Epileptic Encephalopathy.

Pediatr Neurol 2019 Oct 18;99:82-84. Epub 2019 Apr 18.

Kennedy Krieger Institute, Baltimore, Maryland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.04.005DOI Listing
October 2019

Genetic Counseling in Neurodevelopmental Disorders.

Cold Spring Harb Perspect Med 2019 Sep 9. Epub 2019 Sep 9.

Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1101/cshperspect.a036533DOI Listing
September 2019

Challenges to informed consent for exome sequencing: A best-worst scaling experiment.

J Genet Couns 2019 Sep 25. Epub 2019 Sep 25.

RTI International, Rockville, MD, USA.

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http://dx.doi.org/10.1002/jgc4.1171DOI Listing
September 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 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

ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.

J Child Neurol 2018 11 5;33(13):825-831. Epub 2018 Sep 5.

1 Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.

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http://dx.doi.org/10.1177/0883073818791099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188822PMC
November 2018

Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant.

SAGE Open Med Case Rep 2018 24;6:2050313X18807622. Epub 2018 Oct 24.

Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore, MD, USA.

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http://journals.sagepub.com/doi/10.1177/2050313X18807622
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http://dx.doi.org/10.1177/2050313X18807622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202747PMC
October 2018

Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.

J Clin Neuromuscul Dis 2018 Mar;19(3):117-123

Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.

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http://dx.doi.org/10.1097/CND.0000000000000200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824425PMC
March 2018

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

Am J Med Genet A 2017 Sep 26;173(9):2505-2510. Epub 2017 Jun 26.

Hugo W. Moser Research Institute at Kennedy Krieger, Kennedy Krieger Institute, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38339DOI Listing
September 2017

Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum.

Pediatr Neurol 2017 05 2;70:70-74. Epub 2017 Feb 2.

Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland; Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.01.018DOI Listing
May 2017

ELP2 is a novel gene implicated in neurodevelopmental disabilities.

Am J Med Genet A 2015 Jun 2;167(6):1391-5. Epub 2015 Apr 2.

Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36935DOI Listing
June 2015

A diagnostic approach for cerebral palsy in the genomic era.

Neuromolecular Med 2014 Dec 4;16(4):821-44. Epub 2014 Oct 4.

Department of Pediatrics, Shriners Hospitals for Children - Honolulu, University of Hawaii, Honolulu, HI, USA.

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http://link.springer.com/content/pdf/10.1007/s12017-014-8331
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http://link.springer.com/10.1007/s12017-014-8331-9
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http://dx.doi.org/10.1007/s12017-014-8331-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229412PMC
December 2014

Clinical whole exome sequencing in child neurology practice.

Ann Neurol 2014 Oct 30;76(4):473-83. Epub 2014 Aug 30.

Department of Neurogenetics, Hugo W. Moser Research Institute at Kennedy Krieger Institute.

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http://dx.doi.org/10.1002/ana.24251DOI Listing
October 2014

Development and validation of the Psychological Adaptation Scale (PAS): use in six studies of adaptation to a health condition or risk.

Patient Educ Couns 2013 Nov 28;93(2):248-54. Epub 2013 Aug 28.

Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, USA; Health, Behavior and Society, Johns Hopkins Bloomberg, School of Public Health, Baltimore, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pec.2013.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3810267PMC
November 2013

Diagnostic evaluation in children with developmental delay: a cautionary tale for genetic testing.

Clin Pediatr (Phila) 2012 Dec 3;51(12):1208-10. Epub 2012 Oct 3.

Johns Hopkins University, Baltimore, MD, USA.

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http://dx.doi.org/10.1177/0009922812460916DOI Listing
December 2012

Quality of life in rare genetic conditions: a systematic review of the literature.

Am J Med Genet A 2010 May;152A(5):1136-56

Kennedy Krieger Institute, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1002/ajmg.a.33380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113481PMC
May 2010

RANBP2 and CLTC are involved in ALK rearrangements in inflammatory myofibroblastic tumors.

Cancer Genet Cytogenet 2007 Jul;176(2):107-14

Department of Pathology, Johns Hopkins University, Park SB-202, 600 N. Wolfe Street, Baltimore MD 21287, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S016546080700210
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http://dx.doi.org/10.1016/j.cancergencyto.2007.04.004DOI Listing
July 2007