1. 906 De novo mutations in childhood-onset systemic lupus erythematosus. (14th December 2022) Authors: Baxter, Sarah K; Gulsuner, Suleyman; Eckert, Mary M; Lee, Ming K; Walsh, Tom; Stevens, Anne; King, Mary-Claire Journal: Lupus science & medicine Issue: Volume 9(2022)Supplement 3 Page Start: A62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. (October 2018) Authors: Johnston, Jennifer; van der Smagt, Jasper; Rosenfeld, Jill; Pagnamenta, Alistair; Alswaid, Abdulrahman; Baker, Eva; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David; van Gassen, Koen; Gulsuner, Suleyman; Harr, Margaret; Jain, Mahim; Kue... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ). Issue 1 (December 2015) Authors: Doldur-Balli, Fusun; Ozel, Mehmet; Gulsuner, Suleyman; Tekinay, Ayse; Ozcelik, Tayfun; Konu, Ozlen; Adams, Michelle Journal: BMC neuroscience Issue: Volume 16:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes. Issue 12 (15th October 2020) Authors: Walsh, Tom; Casadei, Silvia; Munson, Katherine M; Eng, Mary; Mandell, Jessica B; Gulsuner, Suleyman; King, Mary-Claire Journal: Journal of medical genetics Issue: Volume 58:Issue 12(2021) Page Start: 850 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy. Issue 8 (28th July 2021) Authors: Yechieli, Michal; Gulsuner, Suleyman; Ben-Pazi, Hilla; Fattal, Aviva; Aran, Adi; Kuzminsky, Alla; Sagi, Liora; Guttman, Dafna; Schneebaum Sender, Nira; Gross-Tsur, Varda; Klopstock, Tehila; Walsh, Tom; Renbaum, Paul; Zeligson, Sharon; Shemer Meiri, Lilach; Lev, Dorit; Shmueli, Dorit; Blumkin, Lub... Journal: Journal of medical genetics Issue: Volume 59:Issue 8(2022) Page Start: 759 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder. Issue 8 (26th September 2021) Authors: Carlson, Ryan J.; Quesnel, Alicia; Wells, Dawson; Brownstein, Zippora; Gilony, Dror; Gulsuner, Suleyman; Leppig, Kathleen A.; Avraham, Karen B.; King, Mary-Claire; Walsh, Tom; Rubinstein, Jay Journal: Otology & neurotology Issue: Volume 42:Issue 8(2021) Page Start: e1143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder. Issue 8 (September 2021) Authors: Carlson, Ryan J.; Quesnel, Alicia; Wells, Dawson; Brownstein, Zippora; Gilony, Dror; Gulsuner, Suleyman; Leppig, Kathleen A.; Avraham, Karen B.; King, Mary-Claire; Walsh, Tom; Rubinstein, Jay Journal: Otology & neurotology Issue: Volume 42:Issue 8(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetics of hearing loss in the Arab population of Northern Israel. (December 2018) Authors: Danial-Farran, Nada; Brownstein, Zippora; Gulsuner, Suleyman; Tammer, Luna; Khayat, Morad; Aleme, Ola; Chervinsky, Elena; Zoubi, Olfat; Walsh, Tom; Ast, Gil; King, Mary-Claire; Avraham, Karen; Shalev, Stavit Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1840 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. Issue 4 (19th May 2017) Authors: 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 Journal: International journal of cancer Issue: Volume 141:Issue 4(2017:Aug. 15) Page Start: 750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. (24th May 2016) Authors: Aran, Adi; Rosenfeld, Nuphar; Jaron, Ranit; Renbaum, Paul; Zuckerman, Shachar; Fridman, Hila; Zeligson, Sharon; Segel, Reeval; Kohn, Yoav; Kamal, Lara; Kanaan, Moien; Segev, Yoram; Mazaki, Eyal; Rabinowitz, Ron; Shen, Ori; Lee, Ming; Walsh, Tom; King, Mary Claire; Gulsuner, Suleyman; Levy-Lahad, ... Journal: Neurology Issue: Volume 86:Number 21(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗