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1
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era
Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era
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Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era

Goyal, Gaurav ; Heaney, Mark L. ; Collin, Matthew ; Cohen-Aubart, Fleur ; Vaglio, Augusto ; Durham, Benjamin H. ; Hershkovitz-Rokah, Oshrat ; Girschikofsky, Michael ; Jacobsen, Eric D. ; Toyama, Kazuhiro ; Goodman, Aaron M. ; Hendrie, Paul ; Cao, Xin-xin ; Estrada-Veras, Juvianee I. ; Shpilberg, Ofer ; Abdo, André ; Kurokawa, Mineo ; Dagna, Lorenzo ; McClain, Kenneth L. ; Mazor, Roei D. ; Picarsic, Jennifer ; Janku, Filip ; Go, Ronald S. ; Haroche, Julien ; Diamond, Eli L.

Blood, 2020-05, Vol.135 (22), p.1929-1945 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities
Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities
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Medical genetics and genomic medicine in the Dominican Republic: challenges and opportunities

Estrada‐Veras, Juvianee I. ; Cabrera‐Peña, Giselle A. ; Pérez‐Estrella de Ferrán, Ceila

Molecular genetics & genomic medicine, 2016-05, Vol.4 (3), p.243-256 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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3
Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF V600E mutation
Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF V600E mutation
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Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF V600E mutation

Mirmomen, S Mojdeh ; Sirajuddin, Arlene ; Nikpanah, Moozhan ; Symons, Rolf ; Paschall, Anna K ; Papageorgiou, Ioannis ; Gahl, William A ; O'Brien, Kevin ; Estrada-Veras, Juvianee I ; Malayeri, Ashkan A

European radiology, 2018-11, Vol.28 (11), p.4635-4642 [Periódico revisado por pares]

Germany: Springer Nature B.V

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4
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF V600E mutation
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF V600E mutation
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Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF V600E mutation

Nikpanah, Moozhan ; Kim, Lauren ; Mirmomen, S Mojdeh ; Symons, Rolf ; Papageorgiou, Ioannis ; Gahl, William A ; O'Brien, Kevin ; Estrada-Veras, Juvianee I ; Malayeri, Ashkan A

European radiology, 2018-09, Vol.28 (9), p.3751-3759 [Periódico revisado por pares]

Germany: Springer Nature B.V

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5
Mutation update for the SATB2 gene
Mutation update for the SATB2 gene
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Mutation update for the SATB2 gene

Zarate, Yuri A. ; Bosanko, Katherine A. ; Caffrey, Aisling R. ; Bernstein, Jonathan A. ; Martin, Donna M. ; Williams, Marc S. ; Berry‐Kravis, Elizabeth M. ; Mark, Paul R. ; Manning, Melanie A. ; Bhambhani, Vikas ; Vargas, Marcelo ; Seeley, Andrea H. ; Estrada‐Veras, Juvianee I. ; Dooren, Marieke F. ; Schwab, Maria ; Vanderver, Adeline ; Melis, Daniela ; Alsadah, Adnan ; Sadler, Laurie ; Esch, Hilde ; Callewaert, Bert ; Oostra, Ann ; Maclean, Jane ; Dentici, Maria Lisa ; Orlando, Valeria ; Lipson, Mark ; Sparagana, Steven P. ; Maarup, Timothy J. ; Alsters, Suzanne IM ; Brautbar, Ariel ; Kovitch, Eliana ; Naidu, Sakkubai ; Lees, Melissa ; Smith, Douglas M. ; Turner, Lesley ; Raggio, Víctor ; Spangenberg, Lucía ; Garcia‐Miñaúr, Sixto ; Roeder, Elizabeth R. ; Littlejohn, Rebecca O. ; Grange, Dorothy ; Pfotenhauer, Jean ; Jones, Marilyn C. ; Balasubramanian, Meena ; Martinez‐Monseny, Antonio ; Blok, Lot Snijders ; Gavrilova, Ralitza ; Fish, Jennifer L.

Human mutation, 2019-08, Vol.40 (8), p.1013-1029, Article humu.23771 [Periódico revisado por pares]

United States: Hindawi Limited

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6
Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAF V600E mutation
Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAF V600E mutation
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Skeletal involvement in Erdheim-Chester disease: Multimodality imaging features and association with the BRAF V600E mutation

Nikpanah, Moozhan ; Dehghani Firouzabadi, Fatemeh ; Farhadi, Faraz ; Mirmomen, S Mojdeh ; Ahlman, Mark A ; Huda, Fahimul ; Millo, Corina ; Saboury, Babak ; Paschall, Anna K ; Gahl, William A ; Estrada-Veras, Juvianee I ; Turkbey, Evrim ; Jones, Elizabeth C ; O'Brien, Kevin ; Malayeri, Ashkan A

Clinical imaging, 2024-02, Vol.106, p.110067 [Periódico revisado por pares]

United States

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7
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants
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Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants

Chang, Caitlin A. ; Perrier, Renee ; Kurek, Kyle C. ; Estrada‐Veras, Juvianee ; Lehman, Anna ; Yip, Stephen ; Hendson, Glenda ; Diamond, Carol ; Pinchot, Jason W. ; Tran, Jennifer M. ; Arkin, Lisa M. ; Drolet, Beth A. ; Napier, Melanie P. ; O'Neill, Sarah A. ; Balci, Tugce B. ; Keppler‐Noreuil, Kim M.

American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2829-2845 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms
Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms
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Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms

Diamond, Eli L ; Durham, Benjamin H ; Haroche, Julien ; Yao, Zhan ; Ma, Jing ; Parikh, Sameer A ; Wang, Zhaoming ; Choi, John ; Kim, Eunhee ; Cohen-Aubart, Fleur ; Lee, Stanley Chun-Wei ; Gao, Yijun ; Micol, Jean-Baptiste ; Campbell, Patrick ; Walsh, Michael P ; Sylvester, Brooke ; Dolgalev, Igor ; Aminova, Olga ; Heguy, Adriana ; Zappile, Paul ; Nakitandwe, Joy ; Ganzel, Chezi ; Dalton, James D ; Ellison, David W ; Estrada-Veras, Juvianee ; Lacouture, Mario ; Gahl, William A ; Stephens, Philip J ; Miller, Vincent A ; Ross, Jeffrey S ; Ali, Siraj M ; Briggs, Samuel R ; Fasan, Omotayo ; Block, Jared ; Héritier, Sebastien ; Donadieu, Jean ; Solit, David B ; Hyman, David M ; Baselga, José ; Janku, Filip ; Taylor, Barry S ; Park, Christopher Y ; Amoura, Zahir ; Dogan, Ahmet ; Emile, Jean-Francois ; Rosen, Neal ; Gruber, Tanja A ; Abdel-Wahab, Omar

Cancer discovery, 2016-02, Vol.6 (2), p.154-165

United States

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9
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
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Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Slavotinek, Anne ; Misceo, Doriana ; Htun, Stephanie ; Mathisen, Linda ; Frengen, Eirik ; Foreman, Michelle ; Hurtig, Jennifer E ; Enyenihi, Liz ; Sterrett, Maria C ; Leung, Sara W ; Schneidman-Duhovny, Dina ; Estrada-Veras, Juvianee ; Duncan, Jacque L ; Haaxma, Charlotte A ; Kamsteeg, Erik-Jan ; Xia, Vivian ; Beleford, Daniah ; Si, Yue ; Douglas, Ganka ; Treidene, Hans Einar ; van Hoof, Ambro ; Fasken, Milo B ; Corbett, Anita H

Human Molecular Genetics, 2020-08, Vol.29 (13), p.2218-2239

eScholarship, University of California

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10
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
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Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

Duy, Phan Q ; Weise, Stefan C ; Marini, Claudia ; Li, Xiao-Jun ; Liang, Dan ; Dahl, Peter J ; Ma, Shaojie ; Spajic, Ana ; Dong, Weilai ; Juusola, Jane ; Kiziltug, Emre ; Kundishora, Adam J ; Koundal, Sunil ; Pedram, Maysam Z ; Torres-Fernández, Lucia A ; Händler, Kristian ; De Domenico, Elena ; Becker, Matthias ; Ulas, Thomas ; Juranek, Stefan A ; Cuevas, Elisa ; Hao, Le Thi ; Jux, Bettina ; Sousa, André M M ; Liu, Fuchen ; Kim, Suel-Kee ; Li, Mingfeng ; Yang, Yiying ; Takeo, Yutaka ; Duque, Alvaro ; Nelson-Williams, Carol ; Ha, Yonghyun ; Selvaganesan, Kartiga ; Robert, Stephanie M ; Singh, Amrita K ; Allington, Garrett ; Furey, Charuta G ; Timberlake, Andrew T ; Reeves, Benjamin C ; Smith, Hannah ; Dunbar, Ashley ; DeSpenza, Jr, Tyrone ; Goto, June ; Marlier, Arnaud ; Moreno-De-Luca, Andres ; Yu, Xin ; Butler, William E ; Carter, Bob S ; Lake, Evelyn M R ; Constable, R Todd ; Rakic, Pasko ; Lin, Haifan ; Deniz, Engin ; Benveniste, Helene ; Malvankar, Nikhil S ; Estrada-Veras, Juvianee I ; Walsh, Christopher A ; Alper, Seth L ; Schultze, Joachim L ; Paeschke, Katrin ; Doetzlhofer, Angelika ; Wulczyn, F Gregory ; Jin, Sheng Chih ; Lifton, Richard P ; Sestan, Nenad ; Kolanus, Waldemar ; Kahle, Kristopher T

Nature neuroscience, 2022-04, Vol.25 (4), p.458-473 [Periódico revisado por pares]

United States: Nature Publishing Group

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