Julie S. Cohen

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Ali FatemiChief Medical Officer, Kennedy Krieger Institute, Professor at Johns Hopkins UniversityEmail verificata su kennedykrieger.org
Siddharth SrivastavaHarvard Medical School, Boston Children's HospitalEmail verificata su childrens.harvard.edu
Kathleen MurphyEmail verificata su propath.com
Barbara BieseckerSenior Health Policy Analyst, RTI, InternationalEmail verificata su rti.org
Andrea PorettiClinical Researcher, Johns Hopkins UniversityEmail verificata su jhmi.edu
George J Netto MDUniversity of Pennsylvania Perleman School of Medicine.Email verificata su pennmedicine.upenn.edu
Hilary VernonAssistant Professor, Johns Hopkins UniversityEmail verificata su jhmi.edu
Michael V Johnston, MDProfessor Kennedy Krieger Institute & Johns Hopkins University School of MedicineEmail verificata su kennedykrieger.org
Katherine L. HelbigThe Children's Hospital of PhiladelphiaEmail verificata su email.chop.edu
Leila JamalNational Institutes of HealthEmail verificata su nih.gov
Jonathan PevsnerNational Institute of Mental Health
Alcides Chaux, M.D.Dirección de Investigación y Vinculación con el Entorno, Universidad del Norte, ParaguayEmail verificata su uninorte.edu.py
Siddharth GuptaGlobal Product Manager, Danaher (Pall Biotech)Email verificata su pall.com
Constance Smith-HicksKennedy Krieger InstituteEmail verificata su kennedykrieger.org
Wenqi (Wayne) Zeng MD, PhDSenior Director of Molecular geneticsEmail verificata su questdiagnostics.com
Ali TorkamaniDirector at SRTI, Professor at Scripps ResearchEmail verificata su scripps.edu
Johannes LemkeInstitute of Human Genetics, University of Leipzig, GermanyEmail verificata su medizin.uni-leipzig.de
Robert HuetherDirector Variant Science, Tempus LabsEmail verificata su tempus.com
Alex R PaciorkowskiAssistant Professor of Neurology, Pediatrics & Biomedical Genetics, University of Rochester MedicalEmail verificata su urmc.rochester.edu
Marni J. FalkDepartment of Pediatrics, The Children's Hospital of Philadelphia, University of PennsylvaniaEmail verificata su email.chop.edu

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Julie S. Cohen

Director of Genetic Counseling Services, Kennedy Krieger Institute, Assistant Professor of Neurology

Email verificata su kennedykrieger.org

Genetic counseling genomics neurogenetics neurodevelopmental disorders


Titolo Ordina per citazioni Ordina per anno Ordina per titolo	Citata da Citata da	Anno
Clinical whole exome sequencing in child neurology practice S Srivastava, JS Cohen, H Vernon, K Barañano, R McClellan, L Jamal, ... Annals of neurology 76 (4), 473-483, 2014	306	2014
Quality of life in rare genetic conditions: a systematic review of the literature JS Cohen, BB Biesecker American Journal of Medical Genetics Part A 152 (5), 1136-1156, 2010	249	2010
De novo KCNB1 mutations in epileptic encephalopathy A Torkamani, K Bersell, BS Jorge, RL Bjork Jr, JR Friedman, CS Bloss, ... Annals of neurology 76 (4), 529-540, 2014	159	2014
A diagnostic approach for cerebral palsy in the genomic era RW Lee, A Poretti, JS Cohen, E Levey, H Gwynn, MV Johnston, AH Hoon, ... Neuromolecular medicine 16, 821-844, 2014	125	2014
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant, S Shetty, SM Nordlie, ... Nature genetics 52 (10), 1046-1056, 2020	123	2020
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways AR Paciorkowski, RN Traylor, JA Rosenfeld, JM Hoover, CJ Harris, ... neurogenetics 14, 99-111, 2013	110	2013
High epidermal growth factor receptor immunohistochemical expression in urothelial carcinoma of the bladder is not associated with EGFR mutations in exons 19 and 21: a study … A Chaux, JS Cohen, L Schultz, R Albadine, S Jadallah, KM Murphy, ... Human pathology 43 (10), 1590-1595, 2012	96	2012
RANBP2 and CLTC are involved in ALK rearrangements in inflammatory myofibroblastic tumors AS Patel, KM Murphy, AL Hawkins, JS Cohen, PP Long, EJ Perlman, ... Cancer genetics and cytogenetics 176 (2), 107-114, 2007	96	2007
FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants D Mitter, M Pringsheim, M Kaulisch, KS Plümacher, S Schröder, ... Genetics in Medicine 20 (1), 98-108, 2018	91	2018
DNM1 encephalopathy: A new disease of vesicle fission S Von Spiczak, KL Helbig, DN Shinde, R Huether, M Pendziwiat, ... Neurology 89 (4), 385-394, 2017	91	2017
Development and validation of the Psychological Adaptation Scale (PAS): use in six studies of adaptation to a health condition or risk BB Biesecker, LH Erby, S Woolford, JY Adcock, JS Cohen, A Lamb, ... Patient education and counseling 93 (2), 248-254, 2013	90	2013
Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life JS Cohen, HP Levy, J Sloan, J Dariotis, BB Biesecker Clinical genetics 88 (5), 425-430, 2015	80	2015
ELP2 is a novel gene implicated in neurodevelopmental disabilities JS Cohen, S Srivastava, KD Farwell, HM Lu, W Zeng, H Lu, EC Chao, ... American journal of medical genetics Part A 167 (6), 1391-1395, 2015	79	2015
A novel variant in GABRB2 associated with intellectual disability and epilepsy S Srivastava, J Cohen, J Pevsner, S Aradhya, D McKnight, E Butler, ... American journal of medical genetics Part A 164 (11), 2914-2921, 2014	76	2014
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy DC Pant, I Dorboz, A Schluter, S Fourcade, N Launay, J Joya, ... The Journal of clinical investigation 129 (3), 1240-1256, 2019	68	2019
De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism MJG Sacoto, IA Tchasovnikarova, E Torti, C Forster, EH Andrew, I Anselm, ... The American Journal of Human Genetics 107 (2), 352-363, 2020	66	2020
De novo variants in GRIA4 lead to intellectual disability with or without seizures and gait abnormalities S Martin, A Chamberlin, DN Shinde, M Hempel, TM Strom, A Schreiber, ... The American Journal of Human Genetics 101 (6), 1013-1020, 2017	63	2017
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals BG Ng, P Sosicka, S Agadi, M Almannai, CA Bacino, R Barone, LD Botto, ... Human mutation 40 (7), 908-925, 2019	59	2019
Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome YA Zarate, CL Smith‐Hicks, C Greene, MA Abbott, VM Siu, ... American Journal of Medical Genetics Part A 176 (4), 925-935, 2018	57	2018
Monogenic disorders that mimic the phenotype of Rett syndrome S Srivastava, S Desai, J Cohen, C Smith-Hicks, K Barañano, A Fatemi, ... Neurogenetics 19, 41-47, 2018	50	2018

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