| Year |
Citation |
Score |
| 2023 |
McClellan JM, Zoghbi AW, Buxbaum JD, Cappi C, Crowley JJ, Flint J, Grice DE, Gulsuner S, Iyegbe C, Jain S, Kuo PH, Lattig MC, Passos-Bueno MR, Purushottam M, Stein DJ, et al. An evolutionary perspective on complex neuropsychiatric disease. Neuron. PMID 38016473 DOI: 10.1016/j.neuron.2023.10.037 |
0.482 |
|
| 2023 |
Aburayyan A, Carlson RJ, Rabie GN, Lee MK, Gulsuner S, Walsh T, Avraham KB, Kanaan MN, King MC. Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss. Human Molecular Genetics. PMID 37074134 DOI: 10.1093/hmg/ddad066 |
0.404 |
|
| 2023 |
Carlson RJ, Walsh T, Mandell JB, Aburayyan A, Lee MK, Gulsuner S, Horn DL, Ou HC, Sie KCY, Mancl L, Rubinstein J, King MC. Association of Genetic Diagnoses of Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. Jama Otolaryngology-- Head & Neck Surgery. PMID 36633841 DOI: 10.1001/jamaoto.2022.4463 |
0.429 |
|
| 2021 |
Yechieli M, Gulsuner S, Ben-Pazi H, Fattal A, Aran A, Kuzminsky A, Sagi L, Guttman D, Schneebaum Sender N, Gross-Tsur V, Klopstock T, Walsh T, Renbaum P, Zeligson S, Shemer Meiri L, et al. Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy. Journal of Medical Genetics. PMID 34321325 DOI: 10.1136/jmedgenet-2021-107884 |
0.419 |
|
| 2021 |
Carlson RJ, Quesnel A, Wells D, Brownstein Z, Gilony D, Gulsuner S, Leppig KA, Avraham KB, King MC, Walsh T, Rubinstein J. Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. PMID 34049328 DOI: 10.1097/MAO.0000000000003176 |
0.411 |
|
| 2021 |
Baxter SK, Walsh T, Casadei S, Eckert MM, Allenspach EJ, Hagin D, Segundo G, Lee MK, Gulsuner S, Shirts BH, Sullivan KE, Keller MD, Torgerson TR, King MC. Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy and enteropathy, and implications for clinical management. The Journal of Allergy and Clinical Immunology. PMID 33864888 DOI: 10.1016/j.jaci.2021.04.005 |
0.384 |
|
| 2021 |
Feurstein S, Churpek JE, Walsh T, Keel S, Hakkarainen M, Schroeder T, Germing U, Geyh S, Heuser M, Thol F, Pohlkamp C, Haferlach T, Gao J, Owen C, Goehring G, ... ... Gulsuner S, et al. Germline variants drive myelodysplastic syndrome in young adults. Leukemia. PMID 33510405 DOI: 10.1038/s41375-021-01137-0 |
0.4 |
|
| 2021 |
Walsh T, Gulsuner S, Lee MK, Troester MA, Olshan AF, Earp HS, Perou CM, King MC. Inherited predisposition to breast cancer in the Carolina Breast Cancer Study. Npj Breast Cancer. 7: 6. PMID 33479248 DOI: 10.1038/s41523-020-00214-4 |
0.413 |
|
| 2020 |
Brownstein Z, Gulsuner S, Walsh T, Martins FTA, Taiber S, Isakov O, Lee MK, Bordeynik-Cohen M, Birkan M, Chang W, Casadei S, Danial-Farran N, Abu-Rayyan A, Carlson R, Kamal L, et al. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. Clinical Genetics. 98: 353-364. PMID 33111345 DOI: 10.1111/Cge.13817 |
0.58 |
|
| 2020 |
Walsh T, Casadei S, Munson KM, Eng M, Mandell JB, Gulsuner S, King MC. CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in and other tumour suppressor genes. Journal of Medical Genetics. PMID 33060287 DOI: 10.1136/jmedgenet-2020-107320 |
0.515 |
|
| 2020 |
Feurstein S, Adegunsoye A, Mojsilovic D, Vij R, West DePersia AH, Rajagopal PS, Osman A, Collins RH, Kim RH, Gore SD, Greenberg P, Godley LA, Li Z, Del Gaudio D, Subramanian HP, ... ... Gulsuner S, et al. Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations. Blood Advances. 4: 4873-4886. PMID 33035329 DOI: 10.1182/bloodadvances.2020001721 |
0.48 |
|
| 2020 |
Bodily WR, Shirts BH, Walsh T, Gulsuner S, King MC, Parker A, Roosan M, Piccolo SR. Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures. Plos One. 15: e0239197. PMID 32997669 DOI: 10.1371/journal.pone.0239197 |
0.547 |
|
| 2020 |
Auerbach A, Cohen A, Shlomai NO, Weinberg-Shukron A, Gulsuner S, King MC, Hemi R, Levy-Lahad E, Abulibdeh A, Zangen D. NKX2-2 mutation causes congenital diabetes and infantile obesity with paradoxical glucose induced ghrelin secretion. The Journal of Clinical Endocrinology and Metabolism. PMID 32818257 DOI: 10.1210/Clinem/Dgaa563 |
0.522 |
|
| 2020 |
Abu Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, Canavati C, Dweik D, Jaraysa T, Rabie G, Carlson RJ, Gulsuner S, Lee MK, Avraham KB, Walsh T, et al. Genomic analysis of inherited hearing loss in the Palestinian population. Proceedings of the National Academy of Sciences of the United States of America. PMID 32747562 DOI: 10.1073/Pnas.2009628117 |
0.607 |
|
| 2020 |
Segel R, Aran A, Gulsuner S, Nakamura H, Rosen T, Walsh T, Denda H, Zeligson S, Eto K, Beeri R, Okai H, King MC, Levy-Lahad E, Funato K, Renbaum P. A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures. Neurogenetics. PMID 32462292 DOI: 10.1007/S10048-020-00615-4 |
0.547 |
|
| 2020 |
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, ... ... Gulsuner S, et al. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nature Communications. 11: 595. PMID 32001716 DOI: 10.1038/S41467-020-14360-7 |
0.441 |
|
| 2020 |
Gulsuner S, Stein DJ, Susser ES, Sibeko G, Pretorius A, Walsh T, Majara L, Mndini MM, Mqulwana SG, Ntola OA, Casadei S, Ngqengelele LL, Korchina V, van der Merwe C, Malan M, et al. Genetics of schizophrenia in the South African Xhosa. Science (New York, N.Y.). 367: 569-573. PMID 32001654 DOI: 10.1126/Science.Aay8833 |
0.424 |
|
| 2020 |
Sunshine A, Gulsuner S, Walsh T, King M, McClellan J. Genomic and Functional Analysis of De Novo Nonsense Mutation in a Chromatin Remodeling Gene in a Patient With Sporadic Schizophrenia Biological Psychiatry. 87: S179. DOI: 10.1016/J.Biopsych.2020.02.470 |
0.612 |
|
| 2019 |
Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T. Characterization of splice-altering mutations in inherited predisposition to cancer. Proceedings of the National Academy of Sciences of the United States of America. PMID 31843900 DOI: 10.1073/Pnas.1915608116 |
0.61 |
|
| 2019 |
Lieberman S, Beeri R, Walsh T, Schechter M, Keret D, Half E, Gulsuner S, Tomer A, Jacob H, Cohen S, Basel-Salmon L, Mansur M, Berger R, Katz LH, Golomb E, et al. Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A. Clinical and Translational Gastroenterology. PMID 31259752 DOI: 10.14309/Ctg.0000000000000054 |
0.573 |
|
| 2019 |
Hsu J, Reilly A, Hayes BJ, Clough CA, Konnick EQ, Torok-Storb B, Gulsuner S, Wu D, Becker PS, Keel SB, Abkowitz JL, Doulatov S. Reprogramming identifies functionally distinct stages of clonal evolution in myelodysplastic syndromes. Blood. PMID 31010849 DOI: 10.1182/Blood.2018884338 |
0.44 |
|
| 2019 |
Hassan R, Morrow B, Thomas A, Walsh T, Lee MK, Gulsuner S, Gadiraju M, Panou V, Gao S, Mian I, Khan J, Raffeld M, Patel S, Xi L, Wei JS, et al. Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy. Proceedings of the National Academy of Sciences of the United States of America. PMID 30975761 DOI: 10.1073/Pnas.1821510116 |
0.546 |
|
| 2018 |
Demirayak P, Onat OE, Gevrekci AÖ, Gülsüner S, Uysal H, Bilgen RS, Doerschner K, Özçelik TS, Boyacı H. Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation. Diagnostic and Interventional Radiology (Ankara, Turkey). 24: 392-401. PMID 30406765 DOI: 10.5152/Dir.2018.18096 |
0.535 |
|
| 2018 |
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. Inherited thrombocytopenia associated with mutation of UDP-Galactose-4-Epimerase (GALE). Human Molecular Genetics. PMID 30247636 DOI: 10.1093/Hmg/Ddy334 |
0.593 |
|
| 2018 |
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, et al. Essential Role of BRCA2 in Ovarian Development and Function. The New England Journal of Medicine. 379: 1042-1049. PMID 30207912 DOI: 10.1056/Nejmoa1800024 |
0.563 |
|
| 2018 |
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. Genetics of hearing loss in the Arab population of Northern Israel. European Journal of Human Genetics : Ejhg. PMID 30139988 DOI: 10.1038/S41431-018-0218-Z |
0.547 |
|
| 2018 |
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, et al. Inherited Breast Cancer in Nigerian Women. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. JCO2018783977. PMID 30130155 DOI: 10.1200/Jco.2018.78.3977 |
0.519 |
|
| 2018 |
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. A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing. Blood. PMID 30030275 DOI: 10.1182/Blood-2018-03-837336 |
0.579 |
|
| 2018 |
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, et al. Mitochondrial peptidase loss-of-function in childhood cerebellar atrophy. Journal of Medical Genetics. PMID 29764912 DOI: 10.1136/Jmedgenet-2018-105330 |
0.518 |
|
| 2018 |
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, et al. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29469822 DOI: 10.1038/Gim.2017.249 |
0.448 |
|
| 2018 |
Pierce SB, Stewart MD, Gulsuner S, Walsh T, Dhall A, McClellan JM, Klevit RE, King MC. De novo mutation in RING1 with epigenetic effects on neurodevelopment. Proceedings of the National Academy of Sciences of the United States of America. PMID 29386386 DOI: 10.1073/Pnas.1721290115 |
0.535 |
|
| 2017 |
Norquist BM, Brady MF, Harrell MI, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Burger RA, Tewari KS, Backes FJ, Mannel RS, Glaser G, Bailey C, Rubin SC, et al. Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: an NRG Oncology/Gynecologic Oncology Group Study. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. PMID 29191972 DOI: 10.1158/1078-0432.Ccr-17-1327 |
0.55 |
|
| 2017 |
Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC. Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women. Jama Oncology. PMID 28727877 DOI: 10.1001/Jamaoncol.2017.1996 |
0.537 |
|
| 2017 |
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, et al. Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in THPO. Blood. PMID 28559357 DOI: 10.1182/Blood-2017-02-768036 |
0.546 |
|
| 2017 |
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. Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. International Journal of Cancer. PMID 28486781 DOI: 10.1002/Ijc.30771 |
0.555 |
|
| 2017 |
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, et al. Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome. Neurology. PMID 28188302 DOI: 10.1212/Wnl.0000000000003720 |
0.503 |
|
| 2016 |
Pierce SB, Gulsuner S, Stapleton GA, Walsh T, Lee MK, Mandell JB, Morales A, Klevit RE, King MC, Rogers RC. Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. Cold Spring Harbor Molecular Case Studies. 2: a001107. PMID 27551684 DOI: 10.1101/mcs.a001107 |
0.564 |
|
| 2016 |
Keel SB, Scott A, Sanchez-Bonilla M, Ho PA, Gulsuner S, Pritchard CC, Abkowitz JL, King MC, Walsh T, Shimamura A. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. Haematologica. PMID 27418648 DOI: 10.3324/Haematol.2016.149476 |
0.573 |
|
| 2016 |
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, ... ... Gulsuner S, et al. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. Neurology. PMID 27164683 DOI: 10.1212/Wnl.0000000000002704 |
0.532 |
|
| 2016 |
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, et al. Improving performance of multigene panels for genomic analysis of cancer predisposition. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26845104 DOI: 10.1038/Gim.2015.212 |
0.489 |
|
| 2016 |
Norquist BM, Brady MF, Harrell MI, Walsh TD, Lee MK, Gulsuner S, Bernards SS, Casadei S, Burger RA, Davidson SA, Mannel RS, DiSilvestro PA, Lankes HA, Ramirez NC, King MC, et al. Abstract A12: Mutations in homologous recombination genes and response to treatment in GOG 218: An NRG Oncology Study. Clinical Cancer Research. 22. DOI: 10.1158/1557-3265.Ovca15-A12 |
0.436 |
|
| 2015 |
Doldur-Balli F, Ozel MN, Gulsuner S, Tekinay AB, Ozcelik T, Konu O, Adams MM. Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ). Bmc Neuroscience. 16: 96. PMID 27390838 DOI: 10.1186/S12868-015-0229-4 |
0.615 |
|
| 2015 |
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, et al. Inherited Mutations in Women With Ovarian Carcinoma. Jama Oncology. 1-9. PMID 26720728 DOI: 10.1001/Jamaoncol.2015.5495 |
0.555 |
|
| 2015 |
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. Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. Journal of Medical Genetics. 52: 391-9. PMID 25873734 DOI: 10.1136/Jmedgenet-2014-102921 |
0.354 |
|
| 2015 |
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. Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor. Proceedings of the National Academy of Sciences of the United States of America. 112: E2269. PMID 25825780 DOI: 10.1073/Pnas.1503756112 |
0.664 |
|
| 2015 |
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, et al. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. The Journal of Clinical Endocrinology and Metabolism. 100: E808-14. PMID 25774885 DOI: 10.1210/Jc.2015-1150 |
0.584 |
|
| 2015 |
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, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nature Genetics. 47: 180-5. PMID 25581430 DOI: 10.1038/Ng.3177 |
0.571 |
|
| 2015 |
Gulsuner S, McClellan JM. Copy number variation in schizophrenia. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 40: 252-4. PMID 25482180 DOI: 10.1038/Npp.2014.216 |
0.496 |
|
| 2015 |
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. Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica. 100: 42-8. PMID 25239263 DOI: 10.3324/Haematol.2014.113456 |
0.535 |
|
| 2015 |
Doldur-Balli F, Ozel MN, Gulsuner S, Tekinay AB, Ozcelik T, Konu O, Adams MM. Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ) Bmc Neuroscience. 16. DOI: 10.1186/s12868-015-0229-4 |
0.563 |
|
| 2014 |
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. Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease. Proceedings of the National Academy of Sciences of the United States of America. 111: 18285-90. PMID 25422467 DOI: 10.1073/Pnas.1419581111 |
0.641 |
|
| 2014 |
Gulsuner S, McClellan JM. De novo mutations in schizophrenia disrupt genes co-expressed in fetal prefrontal cortex. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 39: 238-9. PMID 24317315 DOI: 10.1038/Npp.2013.219 |
0.516 |
|
| 2013 |
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. Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia. American Journal of Human Genetics. 93: 697-710. PMID 24094746 DOI: 10.1016/J.Ajhg.2013.09.004 |
0.676 |
|
| 2013 |
Gulsuner S, Walsh T, Watts AC, Lee MK, Thornton AM, Casadei S, Rippey C, Shahin H, Nimgaonkar VL, Go RC, Savage RM, Swerdlow NR, Gur RE, et al. Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell. 154: 518-29. PMID 23911319 DOI: 10.1016/J.Cell.2013.06.049 |
0.743 |
|
| 2013 |
Onat OE, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. European Journal of Human Genetics : Ejhg. 21: 281-5. PMID 22892528 DOI: 10.1038/Ejhg.2012.170 |
0.649 |
|
| 2012 |
Sarac O, Gulsuner S, Yildiz-Tasci Y, Ozcelik T, Kansu T. Neuro-ophthalmologic findings in humans with quadrupedal locomotion. Ophthalmic Genetics. 33: 249-52. PMID 22686558 DOI: 10.3109/13816810.2012.689412 |
0.604 |
|
| 2011 |
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, et al. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Research. 21: 1995-2003. PMID 21885617 DOI: 10.1101/Gr.126110.111 |
0.641 |
|
| 2008 |
Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. Proceedings of the National Academy of Sciences of the United States of America. 105: E32-3. PMID 18544652 DOI: 10.1073/Pnas.0804078105 |
0.603 |
|
| 2008 |
Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proceedings of the National Academy of Sciences of the United States of America. 105: 4232-6. PMID 18326629 DOI: 10.1073/Pnas.0710010105 |
0.656 |
|
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