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Items: 35

1.

Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation.

Demirayak P, Onat OE, Gevrekci AÖ, Gülsüner S, Uysal H, Bilgen RS, Doerschner K, Özçelik TS, Boyacı H.

Diagn Interv Radiol. 2018 Nov;24(6):392-401. doi: 10.5152/dir.2018.18096.

2.

Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).

Seo A, Gulsuner S, Pierce S, Ben-Harosh M, Shalev H, Walsh T, Krasnov T, Dgany O, Doulatov S, Tamary H, Shimamura A, King MC.

Hum Mol Genet. 2019 Jan 1;28(1):133-142. doi: 10.1093/hmg/ddy334.

PMID:
30247636
3.

Essential Role of BRCA2 in Ovarian Development and Function.

Weinberg-Shukron A, Rachmiel M, Renbaum P, Gulsuner S, Walsh T, Lobel O, Dreifuss A, Ben-Moshe A, Zeligson S, Segel R, Shore T, Kalifa R, Goldberg M, King MC, Gerlitz O, Levy-Lahad E, Zangen D.

N Engl J Med. 2018 Sep 13;379(11):1042-1049. doi: 10.1056/NEJMoa1800024.

4.

Genetics of hearing loss in the Arab population of Northern Israel.

Danial-Farran N, Brownstein Z, Gulsuner S, Tammer L, Khayat M, Aleme O, Chervinsky E, Zoubi OA, Walsh T, Ast G, King MC, Avraham KB, Shalev SA.

Eur J Hum Genet. 2018 Dec;26(12):1840-1847. doi: 10.1038/s41431-018-0218-z. Epub 2018 Aug 23.

5.

Inherited Breast Cancer in Nigerian Women.

Zheng Y, Walsh T, Gulsuner S, Casadei S, Lee MK, Ogundiran TO, Ademola A, Falusi AG, Adebamowo CA, Oluwasola AO, Adeoye A, Odetunde A, Babalola CP, Ojengbede OA, Odedina S, Anetor I, Wang S, Huo D, Yoshimatsu TF, Zhang J, Felix GES, King MC, Olopade OI.

J Clin Oncol. 2018 Oct 1;36(28):2820-2825. doi: 10.1200/JCO.2018.78.3977. Epub 2018 Aug 21.

6.

A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing.

Wehr C, Grotius K, Casadei S, Bleckmann D, Bode SFN, Frye BC, Seidl M, Gulsuner S, King MC, Percival MB, Pritchard CC, Walsh T, Wu D, Keel S, Salzer U.

Blood. 2018 Sep 13;132(11):1211-1215. doi: 10.1182/blood-2018-03-837336. Epub 2018 Jul 20. No abstract available.

PMID:
30030275
7.

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Langer Y, Aran A, Gulsuner S, Abu Libdeh B, Renbaum P, Brunetti D, Teixeira PF, Walsh T, Zeligson S, Ruotolo R, Beeri R, Dweikat I, Shahrour M, Weinberg-Shukron A, Zahdeh F, Baruffini E, Glaser E, King MC, Levy-Lahad E, Zeviani M, Segel R.

J Med Genet. 2018 Sep;55(9):599-606. doi: 10.1136/jmedgenet-2018-105330. Epub 2018 May 15.

PMID:
29764912
8.

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG.

Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22.

9.

De novo mutation in RING1 with epigenetic effects on neurodevelopment.

Pierce SB, Stewart MD, Gulsuner S, Walsh T, Dhall A, McClellan JM, Klevit RE, King MC.

Proc Natl Acad Sci U S A. 2018 Feb 13;115(7):1558-1563. doi: 10.1073/pnas.1721290115. Epub 2018 Jan 31.

10.

Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: An NRG Oncology/Gynecologic Oncology Group Study.

Norquist BM, Brady MF, Harrell MI, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Burger RA, Tewari KS, Backes F, Mannel RS, Glaser G, Bailey C, Rubin S, Soper J, Lankes HA, Ramirez NC, King MC, Birrer MJ, Swisher EM.

Clin Cancer Res. 2018 Feb 15;24(4):777-783. doi: 10.1158/1078-0432.CCR-17-1327. Epub 2017 Nov 30.

11.

Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC.

JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.

12.

Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.

Seo A, Ben-Harosh M, Sirin M, Stein J, Dgany O, Kaplelushnik J, Hoenig M, Pannicke U, Lorenz M, Schwarz K, Stockklausner C, Walsh T, Gulsuner S, Lee MK, Sendamarai A, Sanchez-Bonilla M, King MC, Cario H, Kulozik AE, Debatin KM, Schulz A, Tamary H, Shimamura A.

Blood. 2017 Aug 17;130(7):875-880. doi: 10.1182/blood-2017-02-768036. Epub 2017 May 30.

13.

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M.

Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19.

14.

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Aran A, Segel R, Kaneshige K, Gulsuner S, Renbaum P, Oliphant S, Meirson T, Weinberg-Shukron A, Hershkovitz Y, Zeligson S, Lee MK, Samson AO, Parsons SM, King MC, Levy-Lahad E, Walsh T.

Neurology. 2017 Mar 14;88(11):1021-1028. doi: 10.1212/WNL.0000000000003720. Epub 2017 Feb 10.

15.

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

Keel SB, Scott A, Sanchez-Bonilla M, Ho PA, Gulsuner S, Pritchard CC, Abkowitz JL, King MC, Walsh T, Shimamura A.

Haematologica. 2016 Nov;101(11):1343-1350. Epub 2016 Jul 14.

16.

Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.

Pierce SB, Gulsuner S, Stapleton GA, Walsh T, Lee MK, Mandell JB, Morales A, Klevit RE, King MC, Rogers RC.

Cold Spring Harb Mol Case Stud. 2016 Jul;2(4):a001107. doi: 10.1101/mcs.a001107.

17.

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, Zeligson S, Segel R, Kohn Y, Kamal L, Kanaan M, Segev Y, Mazaki E, Rabinowitz R, Shen O, Lee M, Walsh T, King MC, Gulsuner S, Levy-Lahad E.

Neurology. 2016 May 24;86(21):2016-24. doi: 10.1212/WNL.0000000000002704. Epub 2016 Apr 29.

18.

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC.

Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4.

PMID:
26845104
19.

Inherited Mutations in Women With Ovarian Carcinoma.

Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Yi Q, Burger RA, Chan JK, Davidson SA, Mannel RS, DiSilvestro PA, Lankes HA, Ramirez NC, King MC, Swisher EM, Birrer MJ.

JAMA Oncol. 2016 Apr;2(4):482-90. doi: 10.1001/jamaoncol.2015.5495.

20.

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.

Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, Lobel O, Eideh H, Gulsuner S, Dahary D, Abu-Rayyan A, Kanaan M, Levy-Lahad E, Bercovich D, Zangen D.

J Med Genet. 2015 Jun;52(6):391-9. doi: 10.1136/jmedgenet-2014-102921. Epub 2015 Apr 14.

PMID:
25873734
21.

Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor.

Unal Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, Shahin H, Lee MK, Dogu O, Kansu T, Topaloglu H, Elibol B, Akbostanci C, King MC, Ozcelik T, Tekinay AB.

Proc Natl Acad Sci U S A. 2015 May 5;112(18):E2269. doi: 10.1073/pnas.1503756112. Epub 2015 Mar 30. No abstract available.

22.

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR.

J Clin Endocrinol Metab. 2015 May;100(5):E808-14. doi: 10.1210/jc.2015-1150. Epub 2015 Mar 16.

23.

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A.

Nat Genet. 2015 Feb;47(2):180-5. doi: 10.1038/ng.3177. Epub 2015 Jan 12.

24.

Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ).

Doldur-Balli F, Ozel MN, Gulsuner S, Tekinay AB, Ozcelik T, Konu O, Adams MM.

BMC Neurosci. 2015 Dec 23;16(1):96. doi: 10.1186/s12868-015-0229-4.

25.

Copy number variation in schizophrenia.

Gulsuner S, McClellan JM.

Neuropsychopharmacology. 2015 Jan;40(1):252-4. doi: 10.1038/npp.2014.216. Review. No abstract available.

26.

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.

Unal Gulsuner H, Gulsuner S, Mercan FN, Onat OE, Walsh T, Shahin H, Lee MK, Dogu O, Kansu T, Topaloglu H, Elibol B, Akbostanci C, King MC, Ozcelik T, Tekinay AB.

Proc Natl Acad Sci U S A. 2014 Dec 23;111(51):18285-90. doi: 10.1073/pnas.1419581111. Epub 2014 Nov 24.

27.

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Zhang MY, Keel SB, Walsh T, Lee MK, Gulsuner S, Watts AC, Pritchard CC, Salipante SJ, Jeng MR, Hofmann I, Williams DA, Fleming MD, Abkowitz JL, King MC, Shimamura A.

Haematologica. 2015 Jan;100(1):42-8. doi: 10.3324/haematol.2014.113456. Epub 2014 Sep 19.

28.

De novo mutations in schizophrenia disrupt genes co-expressed in fetal prefrontal cortex.

Gulsuner S, McClellan JM.

Neuropsychopharmacology. 2014 Jan;39(1):238-9. doi: 10.1038/npp.2013.219. No abstract available.

29.

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.

Rippey C, Walsh T, Gulsuner S, Brodsky M, Nord AS, Gasperini M, Pierce S, Spurrell C, Coe BP, Krumm N, Lee MK, Sebat J, McClellan JM, King MC.

Am J Hum Genet. 2013 Oct 3;93(4):697-710. doi: 10.1016/j.ajhg.2013.09.004.

30.

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

Gulsuner S, Walsh T, Watts AC, Lee MK, Thornton AM, Casadei S, Rippey C, Shahin H; Consortium on the Genetics of Schizophrenia (COGS); PAARTNERS Study Group, Nimgaonkar VL, Go RC, Savage RM, Swerdlow NR, Gur RE, Braff DL, King MC, McClellan JM.

Cell. 2013 Aug 1;154(3):518-29. doi: 10.1016/j.cell.2013.06.049.

31.

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T.

Eur J Hum Genet. 2013 Mar;21(3):281-5. doi: 10.1038/ejhg.2012.170. Epub 2012 Aug 15.

32.

Neuro-ophthalmologic findings in humans with quadrupedal locomotion.

Sarac O, Gulsuner S, Yildiz-Tasci Y, Ozcelik T, Kansu T.

Ophthalmic Genet. 2012 Dec;33(4):249-52. doi: 10.3109/13816810.2012.689412. Epub 2012 Jun 11.

PMID:
22686558
33.

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T.

Genome Res. 2011 Dec;21(12):1995-2003. doi: 10.1101/gr.126110.111. Epub 2011 Sep 1.

34.

Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion.

Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U.

Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):E32-3. doi: 10.1073/pnas.0804078105. No abstract available.

35.

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U.

Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4232-6. doi: 10.1073/pnas.0710010105. Epub 2008 Mar 7.

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