1. Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study. Issue 4 (24th June 2020) Authors: Shickh, Salma; Gutierrez Salazar, Mariana; Zakoor, Kathleen-Rose; Lázaro, Conxi; Gu, Jessica; Goltz, Jamie; Kleinman, Dakota; Noor, Abdul; Khalouei, Sam; Mighton, Chloe; Reble, Emma; Kodida, Rita; Bombard, Yvonne; DiTroia, Stephanie; Baxter, Samantha; Watkins, Nicholas; Care, Melanie; Adler, Arno... Journal: Journal of medical genetics Issue: Volume 58:Issue 4(2021) Page Start: 275 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy. (3rd May 2022) Authors: Claus, Laura; Stallworth, Jennifer; van Jaarsveld, Richard; Turner, Joshu; Hawks, Alexandra; May, Melanie; Flanagan-Steet, Heather; Louie, Raymond; Silver, Josh; Lerner-Ellise, Jordan; Morel, Chantal; Mighton, Chloe; Ziegler, Alban; Barakat, Stefan; Dahan, Karin; Demoulin, Nathalie; Jean Goffin, ... Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic Counselors' and Genetic Counseling Students' Attitudes Around the Clinical Doctorate and Other Advanced Educational Options for Genetic Counselors: A Report from the Genetic Counseling Advanced Degree Task Force. Issue 4 (30th October 2014) Authors: Nagy, Rebecca; Peay, Holly; Hicks, Melissa; Kloos, Jacqueline; Westman, Rachel; Conway, Laura; Finucane, Brenda; Fitzpatrick, Jennifer; Gordon, Erynn; Ramos, Erica; Sekhon‐Warren, Jaspreet; Silver, Josh; Walton, Carol; Reiser, Catherine Journal: Journal of genetic counseling Issue: Volume 24:Issue 4(2015) Page Start: 626 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance. (April 2020) Authors: Hoss, Sara; Habib, Manhal; Silver, Josh; Care, Melanie; Chan, Raymond H.; Hanneman, Kate; Morel, Chantal F.; Iwanochko, Robert M.; Gollob, Michael H.; Rakowski, Harry; Adler, Arnon Journal: Circulation Issue: Volume 13:Number 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ISDN2014_0146: REMOVED: MeCP2‐chromatin binding dynamics shows a direct genotype–phenotype correlation in males with single amino acid substitutions. Issue 47 (5th November 2015) Authors: Sheikh, Taimoor; Faghfoury, Hannah; Silver, Josh; Vincent, John B. Journal: International journal of developmental neuroscience Issue: Issue 47:Part A(2015:Dec.) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Issue 2 (19th November 2015) Authors: Huang, Lijia; Vanstone, Megan R.; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A.; Dipple, Katrina M.; Dobyns, William B.; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P.; Goel, Himanshu; Gregersen, Pernille A.; Gripp, Karen W.; Grix, Art; G... Journal: Human mutation Issue: Volume 37:Issue 2(2016) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MeCP2-chromatin binding dynamics shows a direct genotype–phenotype correlation in males with single amino acid substitutions. Issue 47 (December 2015) Authors: Sheikh, Taimoor; Faghfoury, Hannah; Silver, Josh; Vincent, John B. Journal: International journal of developmental neuroscience Issue: Issue 47:Part A(2015:Dec.) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Primary mediastinal paraganglioma associated with a familial variant in the succinate dehydrogenase B subunit gene. Issue 2 (10th September 2017) Authors: Samuel, Nardin; Ejaz, Resham; Silver, Josh; Ezzat, Shereen; Cusimano, Robert J.; Kim, Raymond H. Journal: Journal of surgical oncology Issue: Volume 117:Issue 2(2018) Page Start: 160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. REMOVED: MeCP2-chromatin binding dynamics shows a direct genotype–phenotype correlation in males with single amino acid substitutions. Issue 47 (December 2015) Authors: Sheikh, Taimoor; Faghfoury, Hannah; Silver, Josh; Vincent, John B. Journal: International journal of developmental neuroscience Issue: Issue 47:Part A(2015:Dec.) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Self‐refraction, ready‐made glasses and quality of life among rural myopic Chinese children: a non‐inferiority randomized trial. Issue 6 (20th June 2016) Authors: Zhou, Zhongqiang; Chen, Tingting; Jin, Ling; Zheng, Dongxing; Chen, Shangji; He, Mingguang; Silver, Josh; Ellwein, Leon; Moore, Bruce; Congdon, Nathan G. Journal: Acta ophthalmologica Issue: Volume 95:Issue 6(2017) Page Start: 567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗