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NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.
Published in:
2020
By:
- Auerbach, Adi;
- Cohen, Amitay;
- Shlomai, Noa Ofek;
- Weinberg-Shukron, Ariella;
- Gulsuner, Suleyman;
- King, Mary-Claire;
- Hemi, Rina;
- Levy-Lahad, Ephrat;
- Abulibdeh, Abdulsalam;
- Zangen, David;
- Ofek Shlomai, Noa
Publication type:
journal article
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
Published in:
Nature Genetics, 2015, v. 47, n. 2, p. 180, doi. 10.1038/ng.3177
By:
- Gyurkocza, Boglarka;
- Hofmann, Inga;
- Marquez, Rafael;
- King, Mary-Claire;
- Loeb, Keith R;
- Delrow, Jeffrey J;
- Forouhar, Melissa;
- Coats, Scott A;
- Churpek, Jane E;
- Neistadt, Barbara;
- Godley, Lucy A;
- Walsh, Tom;
- Basom, Ryan S;
- Horwitz, Marshall S;
- Shimamura, Akiko;
- Abkowitz, Janis L;
- Gulsuner, Suleyman;
- Pritchard, Colin C;
- Zhang, Michael Y;
- Sanchez-Bonilla, Marilyn
Publication type:
Article
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
Published in:
2015
By:
- Bayram, Yavuz;
- Gulsuner, Suleyman;
- Guran, Tulay;
- Abaci, Ayhan;
- Yesil, Gozde;
- Gulsuner, Hilal Unal;
- Atay, Zeynep;
- Pierce, Sarah B;
- Gambin, Tomasz;
- Lee, Ming;
- Turan, Serap;
- Bober, Ece;
- Atik, Mehmed M;
- Walsh, Tom;
- Karaca, Ender;
- Pehlivan, Davut;
- Jhangiani, Shalini N;
- Muzny, Donna;
- Bereket, Abdullah;
- Buyukgebiz, Atilla
Publication type:
journal article
Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation.
Published in:
2018
By:
- Demirayak, Pınar;
- Onat, Onur Emre;
- Gevrekci, Aslıhan Örs;
- Gülsüner, Süleyman;
- Uysal, Hilmi;
- Bilgen, Rengin;
- Doerschner, Katja;
- Özçelik, Tayfun;
- Boyacı, Hüseyin;
- Bilgen, Rengin S;
- Özçelik, Tayfun S
Publication type:
journal article
Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.
Published in:
NPJ Breast Cancer, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41523-020-00214-4
By:
- Walsh, Tom;
- Gulsuner, Suleyman;
- Lee, Ming K.;
- Troester, Melissa A.;
- Olshan, Andrew F.;
- Earp, H. Shelton;
- Perou, Charles M.;
- King, Mary-Claire
Publication type:
Article
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 3, p. 281, doi. 10.1038/ejhg.2012.170
By:
- Emre Onat, Onur;
- Gulsuner, Suleyman;
- Bilguvar, Kaya;
- Nazli Basak, Ayse;
- Topaloglu, Haluk;
- Tan, Meliha;
- Tan, Uner;
- Gunel, Murat;
- Ozcelik, Tayfun
Publication type:
Article
Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ).
Published in:
2015
By:
- Doldur-Balli, Fusun;
- Ozel, Mehmet Neset;
- Gulsuner, Suleyman;
- Tekinay, Ayse B.;
- Ozcelik, Tayfun;
- Konu, Ozlen;
- Adams, Michelle M.
Publication type:
journal article
Copy Number Variation in Schizophrenia.
Published in:
Neuropsychopharmacology, 2015, v. 40, n. 1, p. 252, doi. 10.1038/npp.2014.216
By:
- Gulsuner, Suleyman;
- McClellan, Jon M
Publication type:
Article
De Novo Mutations in Schizophrenia Disrupt Genes Co-Expressed in Fetal Prefrontal Cortex.
Published in:
Neuropsychopharmacology, 2014, v. 39, n. 1, p. 238, doi. 10.1038/npp.2013.219
By:
- Gulsuner, Suleyman;
- McClellan, Jon M
Publication type:
Article
Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures.
Published in:
PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0239197
By:
- Bodily, Weston R.;
- Shirts, Brian H.;
- Walsh, Tom;
- Gulsuner, Suleyman;
- King, Mary-Claire;
- Parker, Alyssa;
- Roosan, Moom;
- Piccolo, Stephen R.
Publication type:
Article
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 14, p. 2265, doi. 10.1093/hmg/ddad066
By:
- Aburayyan, Amal;
- Carlson, Ryan J;
- Rabie, Grace N;
- Lee, Ming K;
- Gulsuner, Suleyman;
- Walsh, Tom;
- Avraham, Karen B;
- Kanaan, Moien N;
- King, Mary-Claire
Publication type:
Article
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Published in:
Clinical Genetics, 2020, v. 98, n. 4, p. 353, doi. 10.1111/cge.13817
By:
- Brownstein, Zippora;
- Gulsuner, Suleyman;
- Walsh, Tom;
- Martins, Fábio T.A.;
- Taiber, Shahar;
- Isakov, Ofer;
- Lee, Ming K.;
- Bordeynik‐Cohen, Mor;
- Birkan, Maria;
- Chang, Weise;
- Casadei, Silvia;
- Danial‐Farran, Nada;
- Abu‐Rayyan, Amal;
- Carlson, Ryan;
- Kamal, Lara;
- Arnthórsson, Asgeir Ö.;
- Sokolov, Meirav;
- Gilony, Dror;
- Lipschitz, Noga;
- Frydman, Moshe
Publication type:
Article
Revisiting Genetic Testing for Patients with Negative Results: IPEX and FOXP3.
Published in:
Journal of Clinical Immunology, 2022, v. 42, n. 6, p. 1164, doi. 10.1007/s10875-022-01292-8
By:
- Baxter, Sarah K.;
- Gulsuner, Suleyman;
- Hagin, David;
- Torgerson, Troy R.;
- Walsh, Tom
Publication type:
Article
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Published in:
JAMA Otolaryngology-Head & Neck Surgery, 2023, v. 149, n. 3, p. 212, doi. 10.1001/jamaoto.2022.4463
By:
- Carlson, Ryan J.;
- Walsh, Tom;
- Mandell, Jessica B.;
- Aburayyan, Amal;
- Lee, Ming K.;
- Gulsuner, Suleyman;
- Horn, David L.;
- Ou, Henry C.;
- Sie, Kathleen C. Y.;
- Mancl, Lisa;
- Rubinstein, Jay;
- King, Mary-Claire
Publication type:
Article
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Published in:
Human Molecular Genetics, 2019, v. 28, n. 1, p. 133, doi. 10.1093/hmg/ddy334
By:
- Seo, Aaron;
- Gulsuner, Suleyman;
- Pierce, Sarah;
- Ben-Harosh, Miri;
- Shalev, Hanna;
- Walsh, Tom;
- Krasnov, Tanya;
- Dgany, Orly;
- Doulatov, Sergei;
- Tamary, Hannah;
- Shimamura, Akiko;
- King, Mary-Claire
Publication type:
Article
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
Published in:
International Journal of Cancer, 2017, v. 141, n. 4, p. 750, doi. 10.1002/ijc.30771
By:
- Lolas Hamameh, Suhair;
- Renbaum, Paul;
- Kamal, Lara;
- Dweik, Dima;
- Salahat, Mohammad;
- Jaraysa, Tamara;
- Abu Rayyan, Amal;
- Casadei, Silvia;
- Mandell, Jessica B.;
- Gulsuner, Suleyman;
- Lee, Ming K.;
- Walsh, Tom;
- King, Mary‐Claire;
- Levy‐Lahad, Ephrat;
- Kanaan, Moein
Publication type:
Article
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Published in:
Neurogenetics, 2020, v. 21, n. 4, p. 259, doi. 10.1007/s10048-020-00615-4
By:
- Segel, Reeval;
- Aran, Adi;
- Gulsuner, Suleyman;
- Nakamura, Hiroki;
- Rosen, Tzvia;
- Walsh, Tom;
- Denda, Hiroto;
- Zeligson, Sharon;
- Eto, Katsuki;
- Beeri, Rachel;
- Okai, Haruka;
- King, Mary-Claire;
- Levy-Lahad, Ephrat;
- Funato, Kouichi;
- Renbaum, Paul
Publication type:
Article

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