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Insights into genetics, human biology and disease gleaned from family based genomic studies.

Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR; Centers for Mendelian Genomics.

Genet Med. 2019 Jan 18. doi: 10.1038/s41436-018-0408-7. [Epub ahead of print] Review.


TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.

Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G.

Genet Med. 2019 Jan 14. doi: 10.1038/s41436-018-0377-x. [Epub ahead of print]


Clinical variability of children with anti-N-methyl-D-aspartate receptor encephalitis in southern Brazil: a cases series and review of the literature.

do Valle DA, Galeazzi JSP, Machado MR, Dos Santos VCSAR, da Silva AF, Lohr Júnior A, Santos MLSF, Scola RH.

Neurol Sci. 2019 Feb;40(2):351-356. doi: 10.1007/s10072-018-3648-z. Epub 2018 Nov 20.


Insecticide Resistance and Fitness: The Case of Four Aedes aegypti Populations from Different Brazilian Regions.

David MR, Garcia GA, Valle D, Maciel-de-Freitas R.

Biomed Res Int. 2018 Oct 9;2018:6257860. doi: 10.1155/2018/6257860. eCollection 2018.


Efficacy of a Fibrin Sealant (Tissucol Duo) for the Preventionof Lymphocele after Laparoscopic Pelvic Lymphadenectomy:A Randomized Controlled Trial.

Jaunarena I, Ruiz R, Gorostidi M, Cobas P, Avila M, Valle DD, Cespedes J, Lekuona A.

J Minim Invasive Gynecol. 2018 Oct 5. pii: S1553-4650(18)31289-5. doi: 10.1016/j.jmig.2018.10.002. [Epub ahead of print]


Detecting local risk factors for residual malaria in northern Ghana using Bayesian model averaging.

Millar J, Psychas P, Abuaku B, Ahorlu C, Amratia P, Koram K, Oppong S, Valle D.

Malar J. 2018 Sep 29;17(1):343. doi: 10.1186/s12936-018-2491-2.


Laboratory selection of Aedes aegypti field populations with the organophosphate malathion: Negative impacts on resistance to deltamethrin and to the organophosphate temephos.

Viana-Medeiros PF, Bellinato DF, Valle D.

PLoS Negl Trop Dis. 2018 Aug 20;12(8):e0006734. doi: 10.1371/journal.pntd.0006734. eCollection 2018 Aug.


Isolating the roles of movement and reproduction on effective connectivity alters conservation priorities for an endangered bird.

Robertson EP, Fletcher RJ Jr, Cattau CE, Udell BJ, Reichert BE, Austin JD, Valle D.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):8591-8596. doi: 10.1073/pnas.1800183115. Epub 2018 Aug 6.


Extending the Latent Dirichlet Allocation model to presence/absence data: A case study on North American breeding birds and biogeographical shifts expected from climate change.

Valle D, Albuquerque P, Zhao Q, Barberan A, Fletcher RJ Jr.

Glob Chang Biol. 2018 Nov;24(11):5560-5572. doi: 10.1111/gcb.14412. Epub 2018 Aug 26.


Redundant modulatory effects of proinflammatory cytokines in human osteoblastic cells in vitro.

Di Benedetto G, Lempereur L, Valle D, Greco EA, Bernardini R, Lenzi A, Migliaccio S.

Clin Exp Rheumatol. 2018 Nov-Dec;36(6):959-969. Epub 2018 Jun 25.


Analytical "bake-off" of whole genome sequencing quality for the Genome Russia project using a small cohort for autoimmune hepatitis.

Zhernakova DV, Kliver S, Cherkasov N, Tamazian G, Rotkevich M, Krasheninnikova K, Evsyukov I, Sidorov S, Dobrynin P, Yurchenko AA, Shimansky V, Shcherbakova IV, Glotov AS, Valle DL, Tang M, Shin E, Schwarz KB, O'Brien SJ.

PLoS One. 2018 Jul 11;13(7):e0200423. doi: 10.1371/journal.pone.0200423. eCollection 2018.


Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.

Lee-Barber J, English TE, Britton JF, Sobreira N, Goldstein J, Valle D, Bjornsson HT.

JIMD Rep. 2018 Jun 20. doi: 10.1007/8904_2018_116. [Epub ahead of print]


Pyrethroid resistance persists after ten years without usage against Aedes aegypti in governmental campaigns: Lessons from São Paulo State, Brazil.

Macoris ML, Martins AJ, Andrighetti MTM, Lima JBP, Valle D.

PLoS Negl Trop Dis. 2018 Mar 30;12(3):e0006390. doi: 10.1371/journal.pntd.0006390. eCollection 2018 Mar.


Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.

Mealy MA, Nam TS, Pardo SJ, Pardo CA, Sobreira NL, Avramopoulos D, Valle D, Burns KH, Levy M.

Neurol Genet. 2018 Jan 30;4(1):e213. doi: 10.1212/NXG.0000000000000213. eCollection 2018 Feb.


The impact of insecticide applications on the dynamics of resistance: The case of four Aedes aegypti populations from different Brazilian regions.

Garcia GA, David MR, Martins AJ, Maciel-de-Freitas R, Linss JGB, Araújo SC, Lima JBP, Valle D.

PLoS Negl Trop Dis. 2018 Feb 12;12(2):e0006227. doi: 10.1371/journal.pntd.0006227. eCollection 2018 Feb.


Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola D, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT.

Eur J Hum Genet. 2017 Dec;25(12):1335-1344. doi: 10.1038/s41431-017-0023-0. Epub 2017 Nov 7.


Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.

Umanah GKE, Pignatelli M, Yin X, Chen R, Crawford J, Neifert S, Scarffe L, Behensky AA, Guiberson N, Chang M, Ma E, Kim JW, Castro CC, Mao X, Chen L, Andrabi SA, Pletnikov MV, Pulver AE, Avramopoulos D, Bonci A, Valle D, Dawson TM, Dawson VL.

Sci Transl Med. 2017 Dec 13;9(420). pii: eaah4985. doi: 10.1126/scitranslmed.aah4985.


Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.

Ben-Salem S, Robbins SM, Lm Sobreira N, Lyon A, Al-Shamsi AM, Islam BK, Akawi NA, John A, Thachillath P, Al Hamed S, Valle D, Ali BR, Al-Gazali L.

J Med Genet. 2018 Feb;55(2):122-130. doi: 10.1136/jmedgenet-2017-104827. Epub 2017 Nov 9.


Darker eggs of mosquitoes resist more to dry conditions: Melanin enhances serosal cuticle contribution in egg resistance to desiccation in Aedes, Anopheles and Culex vectors.

Farnesi LC, Vargas HCM, Valle D, Rezende GL.

PLoS Negl Trop Dis. 2017 Oct 30;11(10):e0006063. doi: 10.1371/journal.pntd.0006063. eCollection 2017 Oct.


Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM.

Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4.


Insecticide resistance, associated mechanisms and fitness aspects in two Brazilian Stegomyia aegypti (= Aedes aegypti) populations.

Viana-Medeiros PF, Bellinato DF, Martins AJ, Valle D.

Med Vet Entomol. 2017 Dec;31(4):340-350. doi: 10.1111/mve.12241. Epub 2017 Jul 28.


LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A, Dharmaraj T, Jurgens J, Valle D, Wilson KL.

Front Genet. 2017 Jun 15;8:79. doi: 10.3389/fgene.2017.00079. eCollection 2017.


Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD.

Guo W, Samuels JF, Wang Y, Cao H, Ritter M, Nestadt PS, Krasnow J, Greenberg BD, Fyer AJ, McCracken JT, Geller DA, Murphy DL, Knowles JA, Grados MA, Riddle MA, Rasmussen SA, McLaughlin NC, Nurmi EL, Askland KD, Cullen BA, Piacentini J, Pauls DL, Bienvenu OJ, Stewart SE, Goes FS, Maher B, Pulver AE, Valle D, Mattheisen M, Qian J, Nestadt G, Shugart YY.

Eur Neuropsychopharmacol. 2017 Jul;27(7):657-666. doi: 10.1016/j.euroneuro.2017.03.011.


Does deforestation promote or inhibit malaria transmission in the Amazon? A systematic literature review and critical appraisal of current evidence.

Tucker Lima JM, Vittor A, Rifai S, Valle D.

Philos Trans R Soc Lond B Biol Sci. 2017 Jun 5;372(1722). pii: 20160125. doi: 10.1098/rstb.2016.0125. Review.


Adverse systemic reaction to benznidazole.

Coronel MV, Frutos LO, Muñoz EC, Valle DK, Rojas DH.

Rev Soc Bras Med Trop. 2017 Jan-Feb;50(1):145-147. doi: 10.1590/0037-8682-0071-2016.


Skeletal Dysplasias: Growing Therapy for Growing Bones.

Jelin AC, O'Hare E, Blakemore K, Jelin EB, Valle D, Hoover-Fong J.

Front Pharmacol. 2017 Mar 6;8:79. doi: 10.3389/fphar.2017.00079. eCollection 2017. Review.


Individual Movement Strategies Revealed through Novel Clustering of Emergent Movement Patterns.

Valle D, Cvetojevic S, Robertson EP, Reichert BE, Hochmair HH, Fletcher RJ.

Sci Rep. 2017 Mar 8;7:44052. doi: 10.1038/srep44052.


Risk analysis and prediction of visceral leishmaniasis dispersion in São Paulo State, Brazil.

Sevá AD, Mao L, Galvis-Ovallos F, Tucker Lima JM, Valle D.

PLoS Negl Trop Dis. 2017 Feb 6;11(2):e0005353. doi: 10.1371/journal.pntd.0005353. eCollection 2017 Feb.


Delayed cardiac tamponade: A rare but life-threatening complication of catheter ablation.

Yetter E, Brazg J, Del Valle D, Mulvey L, Dickman E.

Am J Emerg Med. 2017 May;35(5):803.e1-803.e3. doi: 10.1016/j.ajem.2016.11.041. Epub 2016 Nov 17. Review.


[Zika, dengue and chikungunya: challenges and issues].

Valle D, Pimenta DN, Aguiar R.

Epidemiol Serv Saude. 2016 Apr-Jun;25(2):419-422. doi: 10.5123/S1679-49742016000200020. Portuguese. No abstract available.


No magic bullet: citizenship and social participation in the control of Aedes aegypti.

Valle D.

Epidemiol Serv Saude. 2016 Jul-Sep;25(3):629-632. doi: 10.5123/S1679-49742016000300018. English, Portuguese. No abstract available.


Stroke-like encephalopathy following high-dose intravenous methotrexate in an adolescent with osteosarcoma: a case report.

Valle DA, Kakehasi FM, Melo RM, Siqueira CM, Soares TF, Rodrigues KE.

Rev Bras Hematol Hemoter. 2016 Oct - Dec;38(4):364-367. doi: 10.1016/j.bjhh.2016.09.005. Epub 2016 Oct 11. No abstract available.


Triflumuron Effects on the Physiology and Reproduction of Rhodnius prolixus Adult Females.

Henriques BS, Genta FA, Mello CB, Silva LR, Codogno TF, Oliveira AF, Marinho LP, Valle D, Lima JB, Feder D, Gonzalez MS, Azambuja P.

Biomed Res Int. 2016;2016:8603140. Epub 2016 Oct 16.


A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia.

Braunstein EM, Li R, Sobreira N, Marosy B, Hetrick K, Doheny K, Gocke CD, Valle D, Brodsky RA, Cheng L.

Leukemia. 2016 Nov;30(11):2242-2245. doi: 10.1038/leu.2016.173. Epub 2016 Jun 15. No abstract available.


The DPYSL2 gene connects mTOR and schizophrenia.

Pham X, Song G, Lao S, Goff L, Zhu H, Valle D, Avramopoulos D.

Transl Psychiatry. 2016 Nov 1;6(11):e933. doi: 10.1038/tp.2016.204.


Neuregulin 3 Knockout Mice Exhibit Behaviors Consistent with Psychotic Disorders.

Hayes LN, Shevelkin A, Zeledon M, Steel G, Chen PL, Obie C, Pulver A, Avramopoulos D, Valle D, Sawa A, Pletnikov MV.

Mol Neuropsychiatry. 2016 Jul;2(2):79-87. doi: 10.1159/000445836. Epub 2016 May 20.


A social-ecological database to advance research on infrastructure development impacts in the Brazilian Amazon.

Tucker Lima JM, Valle D, Moretto EM, Pulice SM, Zuca NL, Roquetti DR, Beduschi LE, Praia AS, Okamoto CP, da Silva Carvalhaes VL, Branco EA, Barbezani B, Labandera E, Timpe K, Kaplan D.

Sci Data. 2016 Aug 30;3:160071. doi: 10.1038/sdata.2016.71.


Thin Layer Chromatography-Bioautography and Gas Chromatography-Mass Spectrometry of Antimicrobial Leaf Extracts from Philippine Piper betle L. against Multidrug-Resistant Bacteria.

Valle DL Jr, Puzon JJ, Cabrera EC, Rivera WL.

Evid Based Complement Alternat Med. 2016;2016:4976791. doi: 10.1155/2016/4976791. Epub 2016 Jul 10.


Lessons learned from the search for genes responsible for rare Mendelian disorders.

Sobreira NL, Valle D.

Mol Genet Genomic Med. 2016 Jul 18;4(4):371-5. doi: 10.1002/mgg3.233. eCollection 2016 Jul. No abstract available.


Resistance Status to the Insecticides Temephos, Deltamethrin, and Diflubenzuron in Brazilian Aedes aegypti Populations.

Bellinato DF, Viana-Medeiros PF, Araújo SC, Martins AJ, Lima JB, Valle D.

Biomed Res Int. 2016;2016:8603263. doi: 10.1155/2016/8603263. Epub 2016 Jun 21.


Molecular and phenotypic characterization of methicillin-resistant Staphylococcus aureus isolates from a tertiary hospital in the Philippines.

Valle DL Jr, Paclibare PA, Cabrera EC, Rivera WL.

Trop Med Health. 2016 Mar 14;44:3. doi: 10.1186/s41182-016-0003-z. eCollection 2016.


Denise Valle--On Bugs, Dengue, and Swimming.

Valle D.

Trends Parasitol. 2016 Mar;32(3):172-4. No abstract available.


Marine debris: Implications for conservation of rocky reefs in Manabi, Ecuador (Se Pacific Coast).

Figueroa-Pico J, Valle DM, Castillo-Ruperti R, Macías-Mayorga D.

Mar Pollut Bull. 2016 Aug 15;109(1):7-13. doi: 10.1016/j.marpolbul.2016.05.070. Epub 2016 Jun 2. Review.


GENOME ENGINEERING. The Genome Project-Write.

Boeke JD, Church G, Hessel A, Kelley NJ, Arkin A, Cai Y, Carlson R, Chakravarti A, Cornish VW, Holt L, Isaacs FJ, Kuiken T, Lajoie M, Lessor T, Lunshof J, Maurano MT, Mitchell LA, Rine J, Rosser S, Sanjana NE, Silver PA, Valle D, Wang H, Way JC, Yang L.

Science. 2016 Jul 8;353(6295):126-7. doi: 10.1126/science.aaf6850. Epub 2016 Jun 2. No abstract available.


A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MBP, Valle D, Armanios M, Hoover-Fong J.

Am J Hum Genet. 2016 May 5;98(5):909-918. doi: 10.1016/j.ajhg.2016.03.014. Epub 2016 Apr 28.


The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Pipitone A, Raval DB, Duis J, Vernon H, Martin R, Hamosh A, Valle D, Gunay-Aygun M.

Am J Med Genet A. 2016 Jun;170(6):1600-2. doi: 10.1002/ajmg.a.37620. Epub 2016 Mar 21.


The role of human adenoviruses type 41 in acute diarrheal disease in Minas Gerais after rotavirus vaccination.

Reis TA, Assis AS, do Valle DA, Barletta VH, de Carvalho IP, Rose TL, Portes SA, Leite JP, da Rosa e Silva ML.

Braz J Microbiol. 2016 Jan-Mar;47(1):243-50. doi: 10.1016/j.bjm.2015.11.011. Epub 2016 Jan 27.


Neurophysiological correlates in Mild Cognitive Impairment detected using group Independent Component Analysis.

Ochoa JF, Ruiz M, Valle D, Duque J, Tobon C, Alonso JF, Hernandez AM, Mananas MA.

Conf Proc IEEE Eng Med Biol Soc. 2015;2015:7442-5. doi: 10.1109/EMBC.2015.7320112.


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