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Items: 48

1.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM; Regeneron Genetics Center, Torti E, Lee JA, Boycott KM, Basel-Salmon L, Ferreira CR, Gonzaga-Jauregui C.

Eur J Hum Genet. 2019 Aug 8. doi: 10.1038/s41431-019-0487-1. [Epub ahead of print]

PMID:
31395947
2.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

3.

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.

Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW.

Neurol Genet. 2019 Apr 18;5(2):e565. doi: 10.1212/NXG.0000000000000316. eCollection 2019 Apr.

4.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J.

Genet Med. 2019 Sep;21(9):2036-2042. doi: 10.1038/s41436-019-0454-9. Epub 2019 Feb 11.

PMID:
30739909
5.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP.

Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25.

PMID:
30679821
6.

POGZ truncating alleles cause syndromic intellectual disability.

White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR.

Genome Med. 2016 Jan 6;8(1):3. doi: 10.1186/s13073-015-0253-0.

7.

Molecular diagnostic experience of whole-exome sequencing in adult patients.

Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE.

Genet Med. 2016 Jul;18(7):678-85. doi: 10.1038/gim.2015.142. Epub 2015 Dec 3.

8.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F.

Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16.

9.

Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.

Meng L, Person RE, Huang W, Zhu PJ, Costa-Mattioli M, Beaudet AL.

PLoS Genet. 2013;9(12):e1004039. doi: 10.1371/journal.pgen.1004039. Epub 2013 Dec 26.

10.

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.

Szafranski P, Dharmadhikari AV, Brosens E, Gurha P, Kolodziejska KE, Zhishuo O, Dittwald P, Majewski T, Mohan KN, Chen B, Person RE, Tibboel D, de Klein A, Pinner J, Chopra M, Malcolm G, Peters G, Arbuckle S, Guiang SF 3rd, Hustead VA, Jessurun J, Hirsch R, Witte DP, Maystadt I, Sebire N, Fisher R, Langston C, Sen P, Stankiewicz P.

Genome Res. 2013 Jan;23(1):23-33. doi: 10.1101/gr.141887.112. Epub 2012 Oct 3.

11.

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

Burrage LC, Person RE, Flores A, Villanos MT, Bi W, Wiszniewska J, Bacino CA.

Am J Med Genet A. 2012 Oct;158A(10):2557-63. doi: 10.1002/ajmg.a.35549. Epub 2012 Aug 17.

PMID:
22903639
12.

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL.

Proc Natl Acad Sci U S A. 2012 May 22;109(21):7974-81. doi: 10.1073/pnas.1120210109. Epub 2012 May 7.

13.

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA 3rd, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P.

Hum Mol Genet. 2012 Aug 1;21(15):3345-55. doi: 10.1093/hmg/dds166. Epub 2012 Apr 27.

14.

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.

Meng L, Person RE, Beaudet AL.

Hum Mol Genet. 2012 Jul 1;21(13):3001-12. doi: 10.1093/hmg/dds130. Epub 2012 Apr 5.

15.

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T.

Eur J Hum Genet. 2010 Nov;18(11):1196-201. doi: 10.1038/ejhg.2010.102. Epub 2010 Jun 30.

16.

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P.

Hum Mutat. 2010 Jul;31(7):840-50. doi: 10.1002/humu.21284.

17.

Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase.

Salipante SJ, Rojas ME, Korkmaz B, Duan Z, Wechsler J, Benson KF, Person RE, Grimes HL, Horwitz MS.

Mol Cell Biol. 2009 Aug;29(16):4394-405. doi: 10.1128/MCB.00596-09. Epub 2009 Jun 8.

18.

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL.

Nat Genet. 2008 Jun;40(6):719-21. doi: 10.1038/ng.158. Epub 2008 May 25.

19.

Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5.

Duan Z, Person RE, Lee HH, Huang S, Donadieu J, Badolato R, Grimes HL, Papayannopoulou T, Horwitz MS.

Mol Cell Biol. 2007 Oct;27(19):6889-902. Epub 2007 Jul 16.

21.

Hereditary neutropenia: dogs explain human neutrophil elastase mutations.

Horwitz M, Benson KF, Duan Z, Li FQ, Person RE.

Trends Mol Med. 2004 Apr;10(4):163-70. Review.

PMID:
15059607
22.

Enteritis necroticans with recurrent enterocutaneous fistulae caused by Clostridium perfringens in a child with cyclic neutropenia.

Li DY, Scheimann AO, Songer JG, Person RE, Horwitz M, Resar L, Schwarz KB.

J Pediatr Gastroenterol Nutr. 2004 Feb;38(2):213-5. No abstract available.

PMID:
14734887
23.

Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2.

Li FQ, Person RE, Takemaru K, Williams K, Meade-White K, Ozsahin AH, Güngör T, Moon RT, Horwitz M.

J Biol Chem. 2004 Jan 23;279(4):2873-84. Epub 2003 Oct 31.

24.

Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy.

Horwitz M, Li FQ, Albani D, Duan Z, Person RE, Meade-White K, Benson KF.

Cancer Invest. 2003;21(4):579-87. Review.

PMID:
14533448
25.

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.

Benson KF, Li FQ, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M.

Nat Genet. 2003 Sep;35(1):90-6. Epub 2003 Aug 3.

PMID:
12897784
26.

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.

Person RE, Li FQ, Duan Z, Benson KF, Wechsler J, Papadaki HA, Eliopoulos G, Kaufman C, Bertolone SJ, Nakamoto B, Papayannopoulou T, Grimes HL, Horwitz M.

Nat Genet. 2003 Jul;34(3):308-12.

27.

Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesis.

Horwitz M, Benson KF, Duan Z, Person RE, Wechsler J, Williams K, Albani D, Li FQ.

Curr Opin Hematol. 2003 Jan;10(1):49-54. Review.

PMID:
12483111
28.

Further evidence for the role of free radicals in the limb teratogenicity of L-NAME.

Fantel AG, Person RE.

Teratology. 2002 Jul;66(1):24-32.

PMID:
12115777
29.

Involvement of mitochondria and other free radical sources in normal and abnormal fetal development.

Fantel AG, Person RE.

Ann N Y Acad Sci. 2002 Apr;959:424-33. Review.

PMID:
11976215
30.

Right-sided diverticulitis mistaken for appendicitis on ultrasonography in a 21-year-old man.

Person RE, Conlin CJ.

J Ultrasound Med. 2001 Jul;20(7):807-9. No abstract available.

PMID:
11444742
32.

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.

Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M.

Blood. 2000 Oct 1;96(7):2317-22.

33.

Free radical formation and toxicity in the limb teratogenicity of L-NAME: a new mechanistic model of vascular disruption.

Fantel AG, Stamps LD, Tran TT, Mackler B, Person RE, Nekahi N.

Teratology. 2000 Oct;62(4):237. Review. No abstract available.

PMID:
10992268
34.

Hepatic lesion differentiated from accessory spleen by a heat-damaged red blood cell scan.

Person RE, Bender JM.

Clin Nucl Med. 2000 Jul;25(7):516-8.

PMID:
10885692
35.

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC.

Nat Genet. 1999 Dec;23(4):433-6.

PMID:
10581030
36.

Role of free radicals in the limb teratogenicity of L-NAME (N(G)-nitro-(L)-arginine methyl ester): a new mechanistic model of vascular disruption.

Fantel AG, Stamps LD, Tran TT, Mackler B, Person RE, Nekahi N.

Teratology. 1999 Sep;60(3):151-60.

PMID:
10471900
37.

Catalytic activity and quantitation of cytochrome P-450 2E1 in prenatal human brain.

Brzezinski MR, Boutelet-Bochan H, Person RE, Fantel AG, Juchau MR.

J Pharmacol Exp Ther. 1999 Jun;289(3):1648-53.

PMID:
10336564
38.

Reactive oxygen species and DNA oxidation in fetal rat tissues.

Fantel AG, Mackler B, Stamps LD, Tran TT, Person RE.

Free Radic Biol Med. 1998 Jul 1;25(1):95-103.

PMID:
9655527
39.

Studies of the cellular distribution of superoxide dismutases in adult and fetal rat tissues.

Mackler B, Person RE, Nguyen TD, Fantel AG.

Free Radic Res. 1998 Feb;28(2):125-9.

PMID:
9645389
40.

Studies of mitochondria in oxidative embryotoxicity.

Fantel AG, Person RE, Tumbic RW, Nguyen TD, Mackler B.

Teratology. 1995 Oct;52(4):190-5.

PMID:
8838288
41.
43.

New antigenic determinants revealed on human IgG by binding to immunoblotting membranes [corrected].

Mannik M, Person RE.

J Immunol Methods. 1991 Nov 22;144(2):265-7. Erratum in: J Immunol Methods 1992 Apr 8;148(1-2):267.

PMID:
1720443
44.
45.

Direct embryotoxicity of cocaine in rats: effects on mitochondrial activity, cardiac function, and growth and development in vitro.

Fantel AG, Person RE, Burroughs-Gleim CJ, Mackler B.

Teratology. 1990 Jul;42(1):35-43.

PMID:
2392777
46.

Studies of embryotoxic mechanisms of niridazole: evidence that oxygen depletion plays a role in dysmorphogenicity.

Fantel AG, Juchau MR, Burroughs CJ, Person RE.

Teratology. 1989 Mar;39(3):243-51.

PMID:
2543096
47.

Studies of mechanisms of niridazole-elicited embryotoxicity: evidence against a major role for covalent binding.

Fantel AG, Juchau MR, Tracy JW, Burroughs CJ, Person RE.

Teratology. 1989 Jan;39(1):63-74.

PMID:
2718141
48.

Niridazole metabolism by rat embryos in vitro.

Fantel AG, Person RE, Tracy JW, Juchau MR.

Teratology. 1988 Mar;37(3):213-21.

PMID:
3368875

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