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Items: 1 to 50 of 115

1.

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM).

NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. Review.

2.

High-throughput identification of noncoding functional SNPs via type IIS enzyme restriction.

Li G, Martínez-Bonet M, Wu D, Yang Y, Cui J, Nguyen HN, Cunin P, Levescot A, Bai M, Westra HJ, Okada Y, Brenner MB, Raychaudhuri S, Hendrickson EA, Maas RL, Nigrovic PA.

Nat Genet. 2018 Aug;50(8):1180-1188. doi: 10.1038/s41588-018-0159-z. Epub 2018 Jul 16.

3.

Msx2 Prevents Stratified Squamous Epithelium Formation in the Enamel Organ.

Nakatomi M, Ida-Yonemochi H, Nakatomi C, Saito K, Kenmotsu S, Maas RL, Ohshima H.

J Dent Res. 2018 Nov;97(12):1355-1364. doi: 10.1177/0022034518777746. Epub 2018 Jun 4.

PMID:
29863959
4.

Liu et al. reply.

Liu Y, Granet D, Lin H, Baxter S, Ouyang H, Zhu J, Huang S, Liu Z, Wu X, Yan F, Liu X, Luo L, Heichel C, Zhang M, Cai W, Maas RL, Zhang K.

Nature. 2018 Apr 4;556(7699):E3-E4. doi: 10.1038/nature26150. No abstract available.

PMID:
29620731
5.

Bio-inspired solute enables preservation of human oocytes using minimum volume vitrification.

Choi JK, El Assal R, Ng N, Ginsburg E, Maas RL, Anchan RM, Demirci U.

J Tissue Eng Regen Med. 2018 Jan;12(1):e142-e149. doi: 10.1002/term.2439. Epub 2017 Aug 25.

6.

Resolving stem and progenitor cells in the adult mouse incisor through gene co-expression analysis.

Seidel K, Marangoni P, Tang C, Houshmand B, Du W, Maas RL, Murray S, Oldham MC, Klein OD.

Elife. 2017 May 5;6. pii: e24712. doi: 10.7554/eLife.24712.

7.

Corrigendum: Lens regeneration using endogenous stem cells with gain of visual function.

Lin H, Ouyang H, Zhu J, Huang S, Liu Z, Chen S, Cao G, Li G, Signer RA, Xu Y, Chung C, Zhang Y, Lin D, Patel S, Wu F, Cai H, Hou J, Wen C, Jafari M, Liu X, Luo L, Zhu J, Qiu A, Hou R, Chen B, Chen J, Granet D, Heichel C, Shang F, Li X, Krawczyk M, Skowronska-Krawczyk D, Wang Y, Shi W, Chen D, Zhong Z, Zhong S, Zhang L, Chen S, Morrison SJ, Maas RL, Zhang K, Liu Y.

Nature. 2017 Jan 26;541(7638):558. doi: 10.1038/nature19831. Epub 2016 Nov 30. No abstract available.

PMID:
27919080
8.

Loss of Zeb2 in mesenchyme-derived nephrons causes primary glomerulocystic disease.

Rasouly HM, Kumar S, Chan S, Pisarek-Horowitz A, Sharma R, Xi QJ, Nishizaki Y, Higashi Y, Salant DJ, Maas RL, Lu W.

Kidney Int. 2016 Dec;90(6):1262-1273. doi: 10.1016/j.kint.2016.06.037. Epub 2016 Aug 31.

9.

The FaceBase Consortium: a comprehensive resource for craniofacial researchers.

Brinkley JF, Fisher S, Harris MP, Holmes G, Hooper JE, Jabs EW, Jones KL, Kesselman C, Klein OD, Maas RL, Marazita ML, Selleri L, Spritz RA, van Bakel H, Visel A, Williams TJ, Wysocka J; FaceBase Consortium, Chai Y.

Development. 2016 Jul 15;143(14):2677-88. doi: 10.1242/dev.135434. Epub 2016 Jun 10.

10.

An integrated miRNA functional screening and target validation method for organ morphogenesis.

Rebustini IT, Vlahos M, Packer T, Kukuruzinska MA, Maas RL.

Sci Rep. 2016 Mar 16;6:23215. doi: 10.1038/srep23215.

11.

Lens regeneration using endogenous stem cells with gain of visual function.

Lin H, Ouyang H, Zhu J, Huang S, Liu Z, Chen S, Cao G, Li G, Signer RA, Xu Y, Chung C, Zhang Y, Lin D, Patel S, Wu F, Cai H, Hou J, Wen C, Jafari M, Liu X, Luo L, Zhu J, Qiu A, Hou R, Chen B, Chen J, Granet D, Heichel C, Shang F, Li X, Krawczyk M, Skowronska-Krawczyk D, Wang Y, Shi W, Chen D, Zhong Z, Zhong S, Zhang L, Chen S, Morrison SJ, Maas RL, Zhang K, Liu Y.

Nature. 2016 Mar 17;531(7594):323-8. doi: 10.1038/nature17181. Epub 2016 Mar 9. Erratum in: Nature. 2017 Jan 26;541(7638):558.

12.

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.

Mukherjee K, Ishii K, Pillalamarri V, Kammin T, Atkin JF, Hickey SE, Xi QJ, Zepeda CJ, Gusella JF, Talkowski ME, Morton CC, Maas RL, Liao EC.

Hum Mol Genet. 2016 Apr 1;25(7):1255-70. doi: 10.1093/hmg/ddw006. Epub 2016 Jan 11.

13.

Crim1 regulates integrin signaling in murine lens development.

Zhang Y, Fan J, Ho JW, Hu T, Kneeland SC, Fan X, Xi Q, Sellarole MA, de Vries WN, Lu W, Lachke SA, Lang RA, John SW, Maas RL.

Development. 2016 Jan 15;143(2):356-66. doi: 10.1242/dev.125591. Epub 2015 Dec 17.

14.

An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood.

Cassa CA, Smith SE, Docken W, Hoffman E, McLaughlin H, Chun S, Leshchiner I, Miraoui H, Raychaudhuri S, Frank NY, Wilson BJ, Sunyaev SR, Maas RL; Brigham Genomic Medicine, Vuzman D.

Rheumatology (Oxford). 2016 Mar;55(3):586-9. doi: 10.1093/rheumatology/kev367. Epub 2015 Oct 22. No abstract available.

15.

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I; Care4Rare Canada Consortium, Maas RL, Boycott K, Alkuraya FS.

Am J Hum Genet. 2015 Oct 1;97(4):608-15. doi: 10.1016/j.ajhg.2015.08.007. Epub 2015 Sep 10.

16.

Transcription Factor PAX6 (Paired Box 6) Controls Limbal Stem Cell Lineage in Development and Disease.

Li G, Xu F, Zhu J, Krawczyk M, Zhang Y, Yuan J, Patel S, Wang Y, Lin Y, Zhang M, Cai H, Chen D, Zhang M, Cao G, Yeh E, Lin D, Su Q, Li WW, Sen GL, Afshari N, Chen S, Maas RL, Fu XD, Zhang K, Liu Y, Ouyang H.

J Biol Chem. 2015 Aug 14;290(33):20448-54. doi: 10.1074/jbc.M115.662940. Epub 2015 Jun 4.

17.

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.

Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL.

Hum Mol Genet. 2015 Apr 15;24(8):2375-89. doi: 10.1093/hmg/ddv004. Epub 2015 Jan 7.

18.

Pax6- and Six3-mediated induction of lens cell fate in mouse and human ES cells.

Anchan RM, Lachke SA, Gerami-Naini B, Lindsey J, Ng N, Naber C, Nickerson M, Cavallesco R, Rowan S, Eaton JL, Xi Q, Maas RL.

PLoS One. 2014 Dec 17;9(12):e115106. doi: 10.1371/journal.pone.0115106. eCollection 2014.

19.

Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.

Gfrerer L, Shubinets V, Hoyos T, Kong Y, Nguyen C, Pietschmann P, Morton CC, Maas RL, Liao EC.

Plast Reconstr Surg. 2014 Oct;134(4):748-59. doi: 10.1097/PRS.0000000000000517.

20.

Abstract 14: requirement of specc1lb in facial prominence integration and formation of the lower jaw.

Gfrerer L, Shubinets V, Nguyen C, Morton CC, Maas RL, Liao EC.

Plast Reconstr Surg. 2014 Mar;133(3 Suppl):24. doi: 10.1097/01.prs.0000445007.18495.25. No abstract available.

PMID:
25942125
21.

Exhaustion of racing sperm in nature-mimicking microfluidic channels during sorting.

Tasoglu S, Safaee H, Zhang X, Kingsley JL, Catalano PN, Gurkan UA, Nureddin A, Kayaalp E, Anchan RM, Maas RL, Tüzel E, Demirci U.

Small. 2013 Oct 25;9(20):3374-84. doi: 10.1002/smll.201300020. Epub 2013 May 16.

22.

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.

Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, Philippakis A, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox J, Lebo M, Rehm H, Weiss ST, Wood JN, Maas RL, Sunyaev SR, Patapoutian A.

Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):4667-72. doi: 10.1073/pnas.1221400110. Epub 2013 Mar 4.

23.

A multi-parametric flow cytometric assay to analyze DNA-protein interactions.

Arbab M, Mahony S, Cho H, Chick JM, Rolfe PA, van Hoff JP, Morris VW, Gygi SP, Maas RL, Gifford DK, Sherwood RI.

Nucleic Acids Res. 2013 Jan;41(2):e38. doi: 10.1093/nar/gks1034. Epub 2012 Nov 11.

24.

Network-based inference from complex proteomic mixtures using SNIPE.

Nusinow DP, Kiezun A, O'Connell DJ, Chick JM, Yue Y, Maas RL, Gygi SP, Sunyaev SR.

Bioinformatics. 2012 Dec 1;28(23):3115-22. doi: 10.1093/bioinformatics/bts594. Epub 2012 Oct 11.

25.

An evolutionarily conserved enhancer regulates Bmp4 expression in developing incisor and limb bud.

Jumlongras D, Lachke SA, O'Connell DJ, Aboukhalil A, Li X, Choe SE, Ho JW, Turbe-Doan A, Robertson EA, Olsen BR, Bulyk ML, Amendt BA, Maas RL.

PLoS One. 2012;7(6):e38568. doi: 10.1371/journal.pone.0038568. Epub 2012 Jun 12.

26.

iSyTE: integrated Systems Tool for Eye gene discovery.

Lachke SA, Ho JW, Kryukov GV, O'Connell DJ, Aboukhalil A, Bulyk ML, Park PJ, Maas RL.

Invest Ophthalmol Vis Sci. 2012 Mar 21;53(3):1617-27. doi: 10.1167/iovs.11-8839. Print 2012 Mar.

27.

A Wnt-bmp feedback circuit controls intertissue signaling dynamics in tooth organogenesis.

O'Connell DJ, Ho JW, Mammoto T, Turbe-Doan A, O'Connell JT, Haseley PS, Koo S, Kamiya N, Ingber DE, Park PJ, Maas RL.

Sci Signal. 2012 Jan 10;5(206):ra4. doi: 10.1126/scisignal.2002414.

28.

Nanoliter droplet vitrification for oocyte cryopreservation.

Zhang X, Khimji I, Shao L, Safaee H, Desai K, Keles HO, Gurkan UA, Kayaalp E, Nureddin A, Anchan RM, Maas RL, Demirci U.

Nanomedicine (Lond). 2012 Apr;7(4):553-64. doi: 10.2217/nnm.11.145. Epub 2011 Dec 21.

29.

RNA Granules and Cataract.

Lachke SA, Maas RL.

Expert Rev Ophthalmol. 2011 Oct 1;6(5):497-500. No abstract available.

30.

The cell adhesion gene PVRL3 is associated with congenital ocular defects.

Lachke SA, Higgins AW, Inagaki M, Saadi I, Xi Q, Long M, Quade BJ, Talkowski ME, Gusella JF, Fujimoto A, Robinson ML, Yang Y, Duong QT, Shapira I, Motro B, Miyoshi J, Takai Y, Morton CC, Maas RL.

Hum Genet. 2012 Feb;131(2):235-50. doi: 10.1007/s00439-011-1064-z. Epub 2011 Jul 17.

31.

Roles of the 15-kDa selenoprotein (Sep15) in redox homeostasis and cataract development revealed by the analysis of Sep 15 knockout mice.

Kasaikina MV, Fomenko DE, Labunskyy VM, Lachke SA, Qiu W, Moncaster JA, Zhang J, Wojnarowicz MW Jr, Natarajan SK, Malinouski M, Schweizer U, Tsuji PA, Carlson BA, Maas RL, Lou MF, Goldstein LE, Hatfield DL, Gladyshev VN.

J Biol Chem. 2011 Sep 23;286(38):33203-12. doi: 10.1074/jbc.M111.259218. Epub 2011 Jul 18.

32.

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL.

Am J Hum Genet. 2011 Jul 15;89(1):44-55. doi: 10.1016/j.ajhg.2011.05.023. Epub 2011 Jun 23.

33.

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.

Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL.

Science. 2011 Mar 25;331(6024):1571-6. doi: 10.1126/science.1195970.

34.

Amniocytes can serve a dual function as a source of iPS cells and feeder layers.

Anchan RM, Quaas P, Gerami-Naini B, Bartake H, Griffin A, Zhou Y, Day D, Eaton JL, George LL, Naber C, Turbe-Doan A, Park PJ, Hornstein MD, Maas RL.

Hum Mol Genet. 2011 Mar 1;20(5):962-74. doi: 10.1093/hmg/ddq542. Epub 2010 Dec 14.

35.

Building the developmental oculome: systems biology in vertebrate eye development and disease.

Lachke SA, Maas RL.

Wiley Interdiscip Rev Syst Biol Med. 2010 May-Jun;2(3):305-323. doi: 10.1002/wsbm.59. Review.

36.

Precise temporal control of the eye regulatory gene Pax6 via enhancer-binding site affinity.

Rowan S, Siggers T, Lachke SA, Yue Y, Bulyk ML, Maas RL.

Genes Dev. 2010 May 15;24(10):980-5. doi: 10.1101/gad.1890410. Epub 2010 Apr 22.

37.

Vitrification and levitation of a liquid droplet on liquid nitrogen.

Song YS, Adler D, Xu F, Kayaalp E, Nureddin A, Anchan RM, Maas RL, Demirci U.

Proc Natl Acad Sci U S A. 2010 Mar 9;107(10):4596-600. doi: 10.1073/pnas.0914059107. Epub 2010 Feb 22.

38.

Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis.

Nakatomi M, Wang XP, Key D, Lund JJ, Turbe-Doan A, Kist R, Aw A, Chen Y, Maas RL, Peters H.

Dev Biol. 2010 Apr 15;340(2):438-49. doi: 10.1016/j.ydbio.2010.01.031. Epub 2010 Feb 1.

39.

Indirect modulation of Shh signaling by Dlx5 affects the oral-nasal patterning of palate and rescues cleft palate in Msx1-null mice.

Han J, Mayo J, Xu X, Li J, Bringas P Jr, Maas RL, Rubenstein JL, Chai Y.

Development. 2009 Dec;136(24):4225-33. doi: 10.1242/dev.036723.

40.

Temporomandibular joint formation requires two distinct hedgehog-dependent steps.

Purcell P, Joo BW, Hu JK, Tran PV, Calicchio ML, O'Connell DJ, Maas RL, Tabin CJ.

Proc Natl Acad Sci U S A. 2009 Oct 27;106(43):18297-302. doi: 10.1073/pnas.0908836106. Epub 2009 Oct 8.

41.

Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood.

Wang XP, O'Connell DJ, Lund JJ, Saadi I, Kuraguchi M, Turbe-Doan A, Cavallesco R, Kim H, Park PJ, Harada H, Kucherlapati R, Maas RL.

Development. 2009 Jun;136(11):1939-49. doi: 10.1242/dev.033803.

42.

Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract.

Burdon KP, Hattersley K, Lachke SA, Laurie KJ, Maas RL, Mackey DA, Craig JE.

Mol Vis. 2008;14:1799-804. Epub 2008 Sep 30.

43.

Notch signaling regulates growth and differentiation in the mammalian lens.

Rowan S, Conley KW, Le TT, Donner AL, Maas RL, Brown NL.

Dev Biol. 2008 Sep 1;321(1):111-22. doi: 10.1016/j.ydbio.2008.06.002. Epub 2008 Jun 13.

44.

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC.

Am J Hum Genet. 2008 Mar;82(3):712-22. doi: 10.1016/j.ajhg.2008.01.011. Erratum in: Am J Hum Genet. 2008 Sep;83(3):425-7.

45.

Preferential reduction of beta cells derived from Pax6-MafB pathway in MafB deficient mice.

Nishimura W, Rowan S, Salameh T, Maas RL, Bonner-Weir S, Sell SM, Sharma A.

Dev Biol. 2008 Feb 15;314(2):443-56. doi: 10.1016/j.ydbio.2007.12.009. Epub 2007 Dec 23.

46.

Concerted action of Msx1 and Msx2 in regulating cranial neural crest cell differentiation during frontal bone development.

Han J, Ishii M, Bringas P Jr, Maas RL, Maxson RE Jr, Chai Y.

Mech Dev. 2007 Sep-Oct;124(9-10):729-45. Epub 2007 Jul 10.

47.

An integrated gene regulatory network controls stem cell proliferation in teeth.

Wang XP, Suomalainen M, Felszeghy S, Zelarayan LC, Alonso MT, Plikus MV, Maas RL, Chuong CM, Schimmang T, Thesleff I.

PLoS Biol. 2007 Jun;5(6):e159.

48.

Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis.

Williamson RE, Darrow KN, Michaud S, Jacobs JS, Jones MC, Eberl DF, Maas RL, Liberman MC, Morton CC.

Am J Med Genet A. 2007 Jul 15;143A(14):1630-9.

PMID:
17534888
49.

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL.

PLoS Genet. 2007 May 25;3(5):e80.

50.

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.

Leach NT, Sun Y, Michaud S, Zheng Y, Ligon KL, Ligon AH, Sander T, Korf BR, Lu W, Harris DJ, Gusella JF, Maas RL, Quade BJ, Cole AJ, Kelz MB, Morton CC.

Am J Hum Genet. 2007 Apr;80(4):792-9. Epub 2007 Feb 12.

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