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Items: 12

1.

Mutation update for the SATB2 gene.

Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL.

Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18.

PMID:
31021519
2.

Return of secondary findings in genomic sequencing: Military implications.

Hellwig LD, Turner C, Manolio TA, Haigney M, James CA, Murray B, Szpisjak DF, Muldoon S, Estrada-Veras J, Krokosky A, De Castro MJ.

Mol Genet Genomic Med. 2019 Feb;7(2):e00483. doi: 10.1002/mgg3.483. Epub 2018 Nov 10. Review.

3.

Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim⁻Chester Disease.

Haroutunian SG, O'Brien KJ, Estrada-Veras JI, Yao J, Boyd LC, Mathur K, Gahl WA, Mirmomen SM, Malayeri AA, Kleiner DE, Jaffe ES, Gochuico BR.

J Clin Med. 2018 Aug 28;7(9). pii: E243. doi: 10.3390/jcm7090243.

4.

Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAFV600E mutation.

Mirmomen SM, Sirajuddin A, Nikpanah M, Symons R, Paschall AK, Papageorgiou I, Gahl WA, O'Brien K, Estrada-Veras JI, Malayeri AA.

Eur Radiol. 2018 Nov;28(11):4635-4642. doi: 10.1007/s00330-018-5421-3. Epub 2018 May 7.

PMID:
29736852
5.

Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation.

Nikpanah M, Kim L, Mirmomen SM, Symons R, Papageorgiou I, Gahl WA, O'Brien K, Estrada-Veras JI, Malayeri AA.

Eur Radiol. 2018 Sep;28(9):3751-3759. doi: 10.1007/s00330-018-5326-1. Epub 2018 Mar 19.

PMID:
29556768
6.

The clinical spectrum of Erdheim-Chester disease: an observational cohort study.

Estrada-Veras JI, O'Brien KJ, Boyd LC, Dave RH, Durham B, Xi L, Malayeri AA, Chen MY, Gardner PJ, Alvarado-Enriquez JR, Shah N, Abdel-Wahab O, Gochuico BR, Raffeld M, Jaffe ES, Gahl WA.

Blood Adv. 2017 Feb 14;1(6):357-366. doi: 10.1182/bloodadvances.2016001784.

7.

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

Estrada-Veras JI, Cabrera-Peña GA, Pérez-Estrella de Ferrán C.

Mol Genet Genomic Med. 2016 May 12;4(3):243-56. doi: 10.1002/mgg3.224. eCollection 2016 May.

8.

Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms.

Diamond EL, Durham BH, Haroche J, Yao Z, Ma J, Parikh SA, Wang Z, Choi J, Kim E, Cohen-Aubart F, Lee SC, Gao Y, Micol JB, Campbell P, Walsh MP, Sylvester B, Dolgalev I, Aminova O, Heguy A, Zappile P, Nakitandwe J, Ganzel C, Dalton JD, Ellison DW, Estrada-Veras J, Lacouture M, Gahl WA, Stephens PJ, Miller VA, Ross JS, Ali SM, Briggs SR, Fasan O, Block J, Héritier S, Donadieu J, Solit DB, Hyman DM, Baselga J, Janku F, Taylor BS, Park CY, Amoura Z, Dogan A, Emile JF, Rosen N, Gruber TA, Abdel-Wahab O.

Cancer Discov. 2016 Feb;6(2):154-65. doi: 10.1158/2159-8290.CD-15-0913. Epub 2015 Nov 13.

9.

Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease.

Diamond EL, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veras J, Ferrarini M, Abdel-Wahab O, Heaney ML, Scheel PJ, Feeley NK, Ferrero E, McClain KL, Vaglio A, Colby T, Arnaud L, Haroche J.

Blood. 2014 Jul 24;124(4):483-92. doi: 10.1182/blood-2014-03-561381. Epub 2014 May 21.

10.

FDG PET images in a patient with Erdheim-Chester disease.

Sioka C, Estrada-Veras J, Maric I, Gahl WA, Chen CC.

Clin Nucl Med. 2014 Feb;39(2):170-7. doi: 10.1097/RLU.0b013e31828da5e6.

11.

Diabetes insipidus, bone lesions, and new-onset red-brown papules in a 42-year-old man.

Kornik RI, Naik HB, Lee CC, Estrada-Veras J, Gahl WA, Cowen EW.

J Am Acad Dermatol. 2013 Jun;68(6):1034-8. doi: 10.1016/j.jaad.2013.01.013. Epub 2013 Mar 1. No abstract available.

12.

Palliative care for patients with cystic fibrosis #265.

Estrada-Veras J, Groninger H.

J Palliat Med. 2013 Apr;16(4):446-7. doi: 10.1089/jpm.2013.9515. Epub 2013 Feb 26. No abstract available.

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