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Julie S. Cohen
Julie S. Cohen
Senior Genetic Counselor, Kennedy Krieger Institute, Assistant Professor of Neurology, Johns Hopkins
Verified email at kennedykrieger.org
Title
Cited by
Cited by
Year
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
2632014
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
2092010
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
1282014
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 (4), 821-844, 2014
972014
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 (2), 99-111, 2013
952013
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
892007
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
852012
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
692020
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
652015
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
642014
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
632013
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
622018
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
612015
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
602017
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
472018
Monogenic disorders that mimic the phenotype of Rett syndrome
S Srivastava, S Desai, J Cohen, C Smith-Hicks, K Barañano, A Fatemi, ...
Neurogenetics 19 (1), 41-47, 2018
462018
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
422017
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
402019
Loss-of-function variants in HIVEP2 are a cause of intellectual disability
S Srivastava, H Engels, I Schanze, K Cremer, T Wieland, M Menzel, ...
European Journal of Human Genetics 24 (4), 556-561, 2016
392016
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
372019
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