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Items: 1 to 50 of 60

1.

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Wallen S, Solveig H, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K.

Genet Med. 2019 Aug 7. doi: 10.1038/s41436-019-0612-0. [Epub ahead of print]

PMID:
31388190
2.

Cohesin complex-associated holoprosencephaly.

Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M.

Brain. 2019 Jul 23. pii: awz210. doi: 10.1093/brain/awz210. [Epub ahead of print]

PMID:
31334757
3.

Novel heterozygous variants in KMT2D associated with holoprosencephaly.

Tekendo-Ngongang C, Kruszka P, Martinez AF, Muenke M.

Clin Genet. 2019 Sep;96(3):266-270. doi: 10.1111/cge.13598. Epub 2019 Jul 15.

PMID:
31282990
4.

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Kruszka P, Berger SI, Weiss K, Everson JL, Martinez AF, Hong S, Anyane-Yeboa K, Lipinski RJ, Muenke M.

Am J Hum Genet. 2019 May 2;104(5):990-993. doi: 10.1016/j.ajhg.2019.03.017. Epub 2019 Apr 18.

PMID:
31006510
5.

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.

Weiss K, Ekhilevitch N, Cohen L, Bratman-Morag S, Bello R, Martinez AF, Hadid Y, Shlush LI, Kurolap A, Paperna T, Mory A, Baris HN, Muenke M.

Eur J Med Genet. 2019 Mar 25. pii: S1769-7212(18)30595-0. doi: 10.1016/j.ejmg.2019.03.007. [Epub ahead of print]

PMID:
30922925
6.

Optical Imaging of Glucose Uptake and Mitochondrial Membrane Potential to Characterize Her2 Breast Tumor Metabolic Phenotypes.

Madonna MC, Fox DB, Crouch BT, Lee J, Zhu C, Martinez AF, Alvarez JV, Ramanujam N.

Mol Cancer Res. 2019 Jul;17(7):1545-1555. doi: 10.1158/1541-7786.MCR-18-0618. Epub 2019 Mar 22.

PMID:
30902832
7.

Human-Derived Organ-on-a-Chip for Personalized Drug Development.

Jodat YA, Kang MG, Kiaee K, Kim GJ, Martinez AFH, Rosenkranz A, Bae H, Shin SR.

Curr Pharm Des. 2018;24(45):5471-5486. doi: 10.2174/1381612825666190308150055.

8.

Enabling Large-Scale Ex Vivo Production of Megakaryocytes from CD34+ Cells Using Gas-Permeable Surfaces.

Martinez AF, Miller WM.

Stem Cells Transl Med. 2019 Jul;8(7):658-670. doi: 10.1002/sctm.18-0160. Epub 2019 Mar 8.

9.

Microbial Diversity and Chemical Multiplicity of Culturable, Taxonomically Similar Bacterial Symbionts of the Leaf-Cutting Ant Acromyrmex coronatus.

Martinez AFC, de Almeida LG, Moraes LAB, Cônsoli FL.

Microb Ecol. 2019 May;77(4):1067-1081. doi: 10.1007/s00248-019-01341-7. Epub 2019 Feb 21.

PMID:
30789995
10.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.

J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. Review. Erratum in: J Inherit Metab Dis. 2019 May;42(3):577.

PMID:
30740725
11.

ADGRL3 (LPHN3) variants predict substance use disorder.

Arcos-Burgos M, Vélez JI, Martinez AF, Ribasés M, Ramos-Quiroga JA, Sánchez-Mora C, Richarte V, Roncero C, Cormand B, Fernández-Castillo N, Casas M, Lopera F, Pineda DA, Palacio JD, Acosta-López JE, Cervantes-Henriquez ML, Sánchez-Rojas MG, Puentes-Rozo PJ, Molina BSG; MTA Cooperative Group, Boden MT, Wallis D, Lidbury B, Newman S, Easteal S, Swanson J, Patel H, Volkow N, Acosta MT, Castellanos FX, de Leon J, Mastronardi CA, Muenke M.

Transl Psychiatry. 2019 Jan 29;9(1):42. doi: 10.1038/s41398-019-0396-7.

12.

Comparison of Physiological Performance of Four Adaptive Servo Ventilation Devices in Patients with Complex Sleep Apnea.

Knitter J, Bailey OF, Poongkunran C, Martinez AF, Martinez L, Kobayashi U, Combs D, Lane R, Zareba W, Parthasarathy S.

Am J Respir Crit Care Med. 2019 Apr 1;199(7):925-928. doi: 10.1164/rccm.201807-1303LE. No abstract available.

PMID:
30605350
13.

Simultaneous in vivo optical quantification of key metabolic and vascular endpoints reveals tumor metabolic diversity in murine breast tumor models.

Zhu C, Li M, Vincent T, Martin HL, Crouch BT, Martinez AF, Madonna MC, Palmer GM, Dewhirst MW, Ramanujam N.

J Biophotonics. 2019 Apr;12(4):e201800372. doi: 10.1002/jbio.201800372. Epub 2019 Jan 28.

PMID:
30565420
14.

Tandem mass spectrometry methods to accelerate the identification of phytotoxic metabolites produced by Streptomyces sp. 39 PL.

Martinez AFC, Mello FMP, Zucchi TD, Melo IS, Moraes LAB.

Nat Prod Res. 2018 Dec 18:1-7. doi: 10.1080/14786419.2018.1525713. [Epub ahead of print]

PMID:
30560691
15.

Early Targeting of L-Selectin on Leukocytes Promotes Recovery after Spinal Cord Injury, Implicating Novel Mechanisms of Pathogenesis.

McCreedy DA, Lee S, Sontag CJ, Weinstein P, Olivas AD, Martinez AF, Fandel TM, Trivedi A, Lowell CA, Rosen SD, Noble-Haeusslein LJ.

eNeuro. 2018 Aug 29;5(4). pii: ENEURO.0101-18.2018. doi: 10.1523/ENEURO.0101-18.2018. eCollection 2018 Jul-Aug.

16.

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.

Hu P, Martinez AF, Kruszka P, Berger S, Roessler E, Muenke M.

Genet Med. 2019 Apr;21(4):1015-1020. doi: 10.1038/s41436-018-0261-8. Epub 2018 Sep 10.

PMID:
30197418
17.

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.

Hu T, Kruszka P, Martinez AF, Ming JE, Shabason EK, Raam MS, Shaikh TH, Pineda-Alvarez DE, Muenke M.

Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):175-186. doi: 10.1002/ajmg.c.31622.

18.

Cardiovascular progenitor cells cultured aboard the International Space Station exhibit altered developmental and functional properties.

Baio J, Martinez AF, Silva I, Hoehn CV, Countryman S, Bailey L, Hasaniya N, Pecaut MJ, Kearns-Jonker M.

NPJ Microgravity. 2018 Jul 26;4:13. doi: 10.1038/s41526-018-0048-x. eCollection 2018.

19.

Near-simultaneous quantification of glucose uptake, mitochondrial membrane potential, and vascular parameters in murine flank tumors using quantitative diffuse reflectance and fluorescence spectroscopy.

Zhu C, Martin HL, Crouch BT, Martinez AF, Li M, Palmer GM, Dewhirst MW, Ramanujam N.

Biomed Opt Express. 2018 Jun 27;9(7):3399-3412. doi: 10.1364/BOE.9.003399. eCollection 2018 Jul 1.

20.

Molecular testing in holoprosencephaly.

Kruszka P, Martinez AF, Muenke M.

Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):187-193. doi: 10.1002/ajmg.c.31617. Epub 2018 May 17.

21.

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.

Martinez AF, Kruszka PS, Muenke M.

Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):246-257. doi: 10.1002/ajmg.c.31616. Epub 2018 May 15.

22.

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos.

Abe Y, Kruszka P, Martinez AF, Roessler E, Shiota K, Yamada S, Muenke M.

Anat Rec (Hoboken). 2018 Jun;301(6):973-986. doi: 10.1002/ar.23791. Epub 2018 Apr 16.

23.

Short-term hypoxia improves early cardiac progenitor cell function in vitro.

Hernandez I, Baio JM, Tsay E, Martinez AF, Fuentes TI, Bailey LL, Hasaniya NW, Kearns-Jonker M.

Am J Stem Cells. 2018 Feb 1;7(1):1-17. eCollection 2018.

24.

Association of Hip and Trunk Strength With Three-Dimensional Trunk, Hip, and Knee Kinematics During a Single-Leg Drop Vertical Jump.

Martinez AF, Lessi GC, Carvalho C, Serrao FV.

J Strength Cond Res. 2018 Jul;32(7):1902-1908. doi: 10.1519/JSC.0000000000002564.

PMID:
29528957
25.

Metaboloptics: Visualization of the tumor functional landscape via metabolic and vascular imaging.

Martinez AF, McCachren SS 3rd, Lee M, Murphy HA, Zhu C, Crouch BT, Martin HL, Erkanli A, Rajaram N, Ashcraft KA, Fontanella AN, Dewhirst MW, Ramanujam N.

Sci Rep. 2018 Mar 8;8(1):4171. doi: 10.1038/s41598-018-22480-w.

26.

Single-bacterial genomics validates rich and varied specialized metabolism of uncultivated Entotheonella sponge symbionts.

Mori T, Cahn JKB, Wilson MC, Meoded RA, Wiebach V, Martinez AFC, Helfrich EJN, Albersmeier A, Wibberg D, Dätwyler S, Keren R, Lavy A, Rückert C, Ilan M, Kalinowski J, Matsunaga S, Takeyama H, Piel J.

Proc Natl Acad Sci U S A. 2018 Feb 20;115(8):1718-1723. doi: 10.1073/pnas.1715496115. Epub 2018 Feb 8.

27.

Spaceflight Activates Protein Kinase C Alpha Signaling and Modifies the Developmental Stage of Human Neonatal Cardiovascular Progenitor Cells.

Baio J, Martinez AF, Bailey L, Hasaniya N, Pecaut MJ, Kearns-Jonker M.

Stem Cells Dev. 2018 Jun 15;27(12):805-818. doi: 10.1089/scd.2017.0263. Epub 2018 Feb 12.

PMID:
29320953
28.

Near-simultaneous intravital microscopy of glucose uptake and mitochondrial membrane potential, key endpoints that reflect major metabolic axes in cancer.

Zhu C, Martinez AF, Martin HL, Li M, Crouch BT, Carlson DA, Haystead TAJ, Ramanujam N.

Sci Rep. 2017 Oct 23;7(1):13772. doi: 10.1038/s41598-017-14226-x.

29.

A uniform-shear rate microfluidic bioreactor for real-time study of proplatelet formation and rapidly-released platelets.

Martinez AF, McMahon RD, Horner M, Miller WM.

Biotechnol Prog. 2017 Nov;33(6):1614-1629. doi: 10.1002/btpr.2563. Epub 2017 Oct 13.

30.

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.

Stokes B, Berger SI, Hall BA, Weiss K, Martinez AF, Hadley DW, Murdock DR, Ramanathan S, Clark RD, Roessler E, Kruszka P, Muenke M.

Congenit Anom (Kyoto). 2018 Jan;58(1):29-32. doi: 10.1111/cga.12234. Epub 2017 Aug 1.

31.

Tapping the biotechnological potential of insect microbial symbionts: new insecticidal porphyrins.

Martinez AFC, de Almeida LG, Moraes LAB, Cônsoli FL.

BMC Microbiol. 2017 Jun 27;17(1):143. doi: 10.1186/s12866-017-1054-y.

32.

Human germline hedgehog pathway mutations predispose to fatty liver.

Guillen-Sacoto MJ, Martinez AF, Abe Y, Kruszka P, Weiss K, Everson JL, Bataller R, Kleiner DE, Ward JM, Sulik KK, Lipinski RJ, Solomon BD, Muenke M.

J Hepatol. 2017 Oct;67(4):809-817. doi: 10.1016/j.jhep.2017.06.008. Epub 2017 Jun 21.

33.

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.

Kruszka P, Tanpaiboon P, Neas K, Crosby K, Berger SI, Martinez AF, Addissie YA, Pongprot Y, Sittiwangkul R, Silvilairat S, Makonkawkeyoon K, Yu L, Wynn J, Bennett JT, Mefford HC, Reynolds WT, Liu X, Mommersteeg MTM, Chung WK, Lo CW, Muenke M.

J Med Genet. 2017 Dec;54(12):825-829. doi: 10.1136/jmedgenet-2017-104611. Epub 2017 Jun 7.

PMID:
28592524
34.

An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility.

Martinez AF, Abe Y, Hong S, Molyneux K, Yarnell D, Löhr H, Driever W, Acosta MT, Arcos-Burgos M, Muenke M.

Biol Psychiatry. 2016 Dec 15;80(12):943-954. doi: 10.1016/j.biopsych.2016.06.026. Epub 2016 Jul 14.

35.

Transplanted Human Stem Cell-Derived Interneuron Precursors Mitigate Mouse Bladder Dysfunction and Central Neuropathic Pain after Spinal Cord Injury.

Fandel TM, Trivedi A, Nicholas CR, Zhang H, Chen J, Martinez AF, Noble-Haeusslein LJ, Kriegstein AR.

Cell Stem Cell. 2016 Oct 6;19(4):544-557. doi: 10.1016/j.stem.2016.08.020. Epub 2016 Sep 22.

36.

ADGRL3 (LPHN3) variants are associated with a refined phenotype of ADHD in the MTA study.

Acosta MT, Swanson J, Stehli A, Molina BS; MTA Team, Martinez AF, Arcos-Burgos M, Muenke M.

Mol Genet Genomic Med. 2016 Jul 18;4(5):540-7. doi: 10.1002/mgg3.230. eCollection 2016 Sep.

37.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M; DDD Study, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M.

Am J Hum Genet. 2016 Oct 6;99(4):934-941. doi: 10.1016/j.ajhg.2016.08.001. Epub 2016 Sep 8.

38.

Neural Plasticity in Obesity and Psychiatric Disorders.

Arcos-Burgos M, Acosta MT, Martinez AF, Muenke M, Enriori PJ, Mastronardi CA.

Neural Plast. 2016;2016:6053871. doi: 10.1155/2016/6053871. Epub 2016 Apr 7. No abstract available.

39.

Are cardiovascular and metabolic responses to field walking tests interchangeable and obesity-dependent?

Di Thommazo-Luporini L, Carvalho LP, Luporini RL, Trimer R, Pantoni CB, Martinez AF, Catai AM, Arena R, Borghi-Silva A.

Disabil Rehabil. 2016 Sep;38(18):1820-9. doi: 10.3109/09638288.2015.1107645. Epub 2015 Dec 17.

PMID:
26681386
40.

Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate.

Mastronardi CA, Pillai E, Pineda DA, Martinez AF, Lopera F, Velez JI, Palacio JD, Patel H, Easteal S, Acosta MT, Castellanos FX, Muenke M, Arcos-Burgos M.

Mol Psychiatry. 2016 Oct;21(10):1434-40. doi: 10.1038/mp.2015.172. Epub 2015 Nov 24.

41.

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

Kruszka P, Uwineza A, Mutesa L, Martinez AF, Abe Y, Zackai EH, Ganetzky R, Chung B, Stevenson RE, Adelstein RS, Ma X, Mullikin JC, Hong SK, Muenke M.

Mol Genet Genomic Med. 2015 Sep;3(5):424-32. doi: 10.1002/mgg3.153. Epub 2015 May 6.

42.

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

Addissie YA, Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M.

Am J Med Genet A. 2015 Nov;167A(11):2657-63. doi: 10.1002/ajmg.a.37259. Epub 2015 Aug 6. Review.

PMID:
26249544
43.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH.

J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20.

44.

Analysis of renal anomalies in VACTERL association.

Cunningham BK, Khromykh A, Martinez AF, Carney T, Hadley DW, Solomon BD.

Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):801-5. doi: 10.1002/bdra.23302. Epub 2014 Sep 5.

45.

Liquid chromatography-tandem mass spectrometry characterization of five new leucinostatins produced by Paecilomyces lilacinus CG-189.

Martinez AF, Moraes LA.

J Antibiot (Tokyo). 2015 Mar;68(3):178-84. doi: 10.1038/ja.2014.120. Epub 2014 Sep 3.

PMID:
25182486
46.

GWAS reveals new recessive loci associated with non-syndromic facial clefting.

Camargo M, Rivera D, Moreno L, Lidral AC, Harper U, Jones M, Solomon BD, Roessler E, Vélez JI, Martinez AF, Chandrasekharappa SC, Arcos-Burgos M.

Eur J Med Genet. 2012 Oct;55(10):510-4. doi: 10.1016/j.ejmg.2012.06.005. Epub 2012 Jun 27.

47.

Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease.

Vélez JI, Chandrasekharappa SC, Henao E, Martinez AF, Harper U, Jones M, Solomon BD, Lopez L, Garcia G, Aguirre-Acevedo DC, Acosta-Baena N, Correa JC, Lopera-Gómez CM, Jaramillo-Elorza MC, Rivera D, Kosik KS, Schork NJ, Swanson JM, Lopera F, Arcos-Burgos M.

Mol Psychiatry. 2013 May;18(5):568-75. doi: 10.1038/mp.2012.81. Epub 2012 Jun 19.

48.

Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate.

Pineda DA, Lopera F, Puerta IC, Trujillo-Orrego N, Aguirre-Acevedo DC, Hincapié-Henao L, Arango CP, Acosta MT, Holzinger SI, Palacio JD, Pineda-Alvarez DE, Velez JI, Martinez AF, Lewis JE, Muenke M, Arcos-Burgos M.

Atten Defic Hyperact Disord. 2011 Sep;3(3):291-9. doi: 10.1007/s12402-011-0061-3. Epub 2011 Jul 16.

49.

Image of the month. Portal hypertensive biliopathy.

Martinez AF, Bonacini M, Roberts JP.

Arch Surg. 2011 May;146(5):625-6. doi: 10.1001/archsurg.2011.98-a. No abstract available.

PMID:
21576616
50.

From the black widow spider to human behavior: Latrophilins, a relatively unknown class of G protein-coupled receptors, are implicated in psychiatric disorders.

Martinez AF, Muenke M, Arcos-Burgos M.

Am J Med Genet B Neuropsychiatr Genet. 2011 Jan;156B(1):1-10. doi: 10.1002/ajmg.b.31137. Epub 2010 Nov 12.

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