1. A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature. Issue 4 (14th February 2018) Authors: Upadia, Jariya; Philips, Joseph B.; Robin, Nathaniel H.; Lose, Edward J.; Mikhail, Fady M. Journal: Clinical case reports Issue: Volume 6:Issue 4(2018) Page Start: 612 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C. Issue 12 (14th September 2018) Authors: Upadia, Jariya; Gonzales, Patrick R.; Atkinson, T. Prescott; Schroeder, Harry W.; Robin, Nathaniel H.; Rudy, Natasha L.; Mikhail, Fady M. Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Array comparative genomic hybridisation testing in CHD. (8th October 2014) Authors: Hightower, Hannah B.; Robin, Nathaniel H.; Mikhail, Fady M.; Ambalavanan, Namasivayam Journal: Cardiology in the young Issue: Volume 25:Number 6(2015) Page Start: 1155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Choose your words carefully. Issue 7 (8th April 2021) Authors: Robin, Nathaniel H. Journal: American journal of medical genetics Issue: Volume 185:Issue 7(2021) Page Start: 1953 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Classic phenotype of Coffin–lowry syndrome in a female with stimulus‐induced drop episodes and a genotype with preserved N‐terminal kinase domain. Issue 2 (5th December 2013) Authors: Rojnueangnit, Kitiwan; Jones, Julie R.; Basehore, Monica J.; Robin, Nathaniel H. Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 516 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion. Issue 1 (30th September 2015) Authors: Williams, Crescenda L.; Nelson, Katherine R.; Grant, John H.; Mikhail, Fady M.; Robin, Nathaniel H. Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 260 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Issue 2 (14th November 2013) Authors: Cheng, Yu‐Wei; Tan, Christopher A.; Minor, Agata; Arndt, Kelly; Wysinger, Latrice; Grange, Dorothy K.; Kozel, Beth A.; Robin, Nathaniel H.; Waggoner, Darrel; Fitzpatrick, Carrie; Das, Soma; Gaudio, Daniela del Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 2(2014:Mar.) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome. Issue 8 (27th June 2013) Authors: Rojnueangnit, Kitiwan; Robin, Nathaniel H. Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 2024 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Editorial introductions. Issue 6 (December 2016) Editors: Robin, Nathaniel H.; Tasker, Robert C.; Chatila, Talal; Bernstein, Henry H. Journal: Current opinion in pediatrics Issue: Volume 28:Issue 6(2016:Dec.) Page Start: v Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗