Publications by authors named "Suleyman Gulsuner"

46Publications

CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in and other tumour suppressor genes.

J Med Genet 2020 Oct 15. Epub 2020 Oct 15.

Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, Washington, USA

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http://dx.doi.org/10.1136/jmedgenet-2020-107320DOI Listing
October 2020

NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.

J Clin Endocrinol Metab 2020 Nov;105(11)

Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1210/clinem/dgaa563DOI Listing
November 2020

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.

Neurogenetics 2020 Oct 27;21(4):259-267. Epub 2020 May 27.

Medical Genetics Institute, Shaare Zedek Medical Center and Hebrew University-Hadassah School of Medicine, P.O.B. 3235, 91031, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-020-00615-4DOI Listing
October 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

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

Diagn Interv Radiol 2018 Nov;24(6):392-401

Neuroscience Graduate Program, A.S. Brain Research Center and National Magnetic Resonance Research Center and Psychology, Bilkent University, Ankara, Turkey; Department of Psychology, JL Giessen University, Giessen, Germany.

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http://dx.doi.org/10.5152/dir.2018.18096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6223827PMC
November 2018

Essential Role of BRCA2 in Ovarian Development and Function.

N Engl J Med 2018 09;379(11):1042-1049

From the Medical Genetics Institute, Shaare Zedek Medical Center (A.W.-S., P.R., O.L., S.Z., R.S., E.L.-L.), the Faculty of Medicine, Hebrew University of Jerusalem, Hadassah Medical School (A.W.-S., E.L.-L., D.Z.), the Department of Developmental Biology and Cancer Research, IMRIC (Institute for Medical Research, Israel-Canada), Faculty of Medicine, Hebrew University of Jerusalem (A.D., T.S., R.K., O.G.), the Department of Genetics, Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem (A.B.-M., M.G.), and the Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center (D.Z.), Jerusalem, and the Pediatric Endocrinology Clinic, Assaf Harofeh Medical Center, Zerifin, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv (M.R.) - all in Israel; and the Division of Medical Genetics, Department of Medicine and the Department of Genome Sciences, University of Washington, Seattle (S.G., T.W., M.-C.K.).

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http://www.nejm.org/doi/10.1056/NEJMoa1800024
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http://dx.doi.org/10.1056/NEJMoa1800024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230262PMC
September 2018

Inherited Breast Cancer in Nigerian Women.

J Clin Oncol 2018 10 21;36(28):2820-2825. Epub 2018 Aug 21.

Yonglan Zheng, Shengfeng Wang, Dezheng Huo, Toshio F. Yoshimatsu, Jing Zhang, Gabriela E.S. Felix, and Olufunmilayo I. Olopade, The University of Chicago, Chicago, IL; Tom Walsh, Suleyman Gulsuner, Silvia Casadei, Ming K. Lee, and Mary-Claire King, University of Washington, Seattle, WA; Temidayo O. Ogundiran, Adeyinka Ademola, Adeyinka G. Falusi, Abideen O. Oluwasola, Adewumi Adeoye, Abayomi Odetunde, Chinedum P. Babalola, Oladosu A. Ojengbede, Stella Odedina, Imaria Anetor, University of Ibadan; Clement A. Adebamowo, Centre for Bioethics and Research, Ibadan, Oyo, Nigeria, and University of Maryland School of Medicine, Baltimore, MD; and Gabriela E.S. Felix, Fundação Oswaldo Cruz and Universidade Federal da Bahia, Bahia, Brazil.

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http://dx.doi.org/10.1200/JCO.2018.78.3977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161833PMC
October 2018

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

J Med Genet 2018 09 15;55(9):599-606. Epub 2018 May 15.

Department of Pediatrics, Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University-Hadassah School of Medicine, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2018-105330DOI Listing
September 2018

De novo mutation in with epigenetic effects on neurodevelopment.

Proc Natl Acad Sci U S A 2018 02 31;115(7):1558-1563. Epub 2018 Jan 31.

Department of Medicine, University of Washington, Seattle, WA 98195;

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http://dx.doi.org/10.1073/pnas.1721290115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816211PMC
February 2018

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.

Neurology 2017 Mar 10;88(11):1021-1028. Epub 2017 Feb 10.

From the Neuropediatric Unit (A.A.) and Medical Genetics (R.S., P.R., A.W.-S., S.Z., E.L.-L.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (A.A., R.S., A.W.-S., E.L.-L.), Jerusalem, Israel; Department of Chemistry and Biochemistry (K.K., S.O., S.M.P.), University of California, Santa Barbara; Faculty of Medicine (T.M., Y.H., A.O.S.), Bar Ilan University, Safed, Israel; and Departments of Medicine and Genome Sciences (S.G., M.K.L., M.-C.K., T.W.), University of Washington, Seattle.

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http://dx.doi.org/10.1212/WNL.0000000000003720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384838PMC
March 2017

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

Neurology 2016 05 29;86(21):2016-24. Epub 2016 Apr 29.

From the Neuropediatric Unit (A.A.), Medical Genetics (N.R., R.J., P.R., S. Zuckerman, H.F., S. Zeligson, R.S., E.L.-L.), MRI Unit (Y.S.), and Obstetrics and Gynecology Department (E.M., R.R., O.S.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (A.A., N.R., H.F., R.S., Y.K., R.R., E.L.-L.), Jerusalem; Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Israel; Hereditary Research Laboratory (L.K., M.K.), Bethlehem University, Palestinian Authority; and Departments of Medicine (Medical Genetics) and Genome Sciences (M.L., T.W., M.C.K., S.G.), University of Washington, Seattle.

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http://dx.doi.org/10.1212/WNL.0000000000002704DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887125PMC
May 2016

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

J Med Genet 2015 Jun 14;52(6):391-9. Epub 2015 Apr 14.

Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jmedgenet-2014-102921DOI Listing
June 2015

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

J Clin Endocrinol Metab 2015 May 16;100(5):E808-14. Epub 2015 Mar 16.

Department of Molecular and Human Genetics (Y.B., T.Ga., M.M.A., E.K., D.P., J.R.L.), Baylor College of Medicine, Houston, Texas 77030; Department of Medicine, Division of Medical Genetics (S.G., H.U.G., S.B.P., M.L., T.W., M.-C.K.), University of Washington, Seattle, Washington 98195; Department of Pediatric Endocrinology and Diabetes (T.Gu., Z.A., S.T., A.Be.), Marmara University Hospital, Istanbul, Turkey 34899; Department of Pediatric Endocrinology (A.Ab., E.Bob., A.Bu.), Dokuz Eylül University Faculty of Medicine, Izmir, Turkey 35340; Department of Medical Genetics (G.Y.), Bezmialem University, Istanbul, Turkey 34093; Human Genome Sequencing Center (S.N.J., D.M., E.Boe., R.A.G.), Baylor College of Medicine, Houston, Texas 77030; Human Genetics Center (E.Boe.), University of Texas Health Science Center at Houston, Houston, Texas 77030; Department of Pediatrics (J.R.L.), Baylor College of Medicine, Houston, Texas 77030; and Texas Children's Hospital (J.R.L.), Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2015-1150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422898PMC
May 2015

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Nat Genet 2015 Feb 12;47(2):180-5. Epub 2015 Jan 12.

1] Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA. [2] Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, Washington, USA. [3] Department of Pediatrics, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/ng.3177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4540357PMC
February 2015

Copy number variation in schizophrenia.

Neuropsychopharmacology 2015 Jan;40(1):252-4

Department of Psychiatry, University of Washington, Seattle WA, USA.

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http://dx.doi.org/10.1038/npp.2014.216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262903PMC
January 2015

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

Haematologica 2015 Jan 19;100(1):42-8. Epub 2014 Sep 19.

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA Department of Pediatric Hematology/Oncology, Seattle Children's Hospital, WA Department of Pediatrics, University of Washington, Seattle, WA, USA

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http://dx.doi.org/10.3324/haematol.2014.113456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281311PMC
January 2015

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

Neuropsychopharmacology 2014 Jan;39(1):238-9

1] Department of Medicine, University of Washington, Seattle, WA, USA [2] Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/npp.2013.219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3857658PMC
January 2014

Neuro-ophthalmologic findings in humans with quadrupedal locomotion.

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

Department of 2nd Ophthalmology, Ankara Ataturk Training and Research Hospital, Bilkent, Ankara, Turkey.

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http://www.tandfonline.com/doi/full/10.3109/13816810.2012.68
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http://dx.doi.org/10.3109/13816810.2012.689412DOI Listing
December 2012

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

Proc Natl Acad Sci U S A 2008 Mar 7;105(11):4232-6. Epub 2008 Mar 7.

Department of Molecular Biology and Genetics, Faculty of Science and Institute of Materials Science and Nanotechnology, Bilkent University, Ankara 06800, Turkey.

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http://dx.doi.org/10.1073/pnas.0710010105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2393756PMC
March 2008