1. A familial 7q36.3 duplication associated with agenesis of the corpus callosum. (5th May 2015) Authors: Wong, Keith; Moldrich, Randal; Hunter, Matthew; Edwards, Matthew; Finlay, David; O'Donnell, Sheridan; MacDougall, Tom; Bain, Nicole; Kamien, Benjamin Journal: American journal of medical genetics Issue: Volume 167:Number 9(2015:Sep.) Page Start: 2201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. Issue 3 (17th February 2017) Authors: Le Fevre, Anna; Beygo, Jasmin; Silveira, Cheryl; Kamien, Benjamin; Clayton‐Smith, Jill; Colley, Alison; Buiting, Karin; Dudding‐Byth, Tracy Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. Issue 3 (March 2017) Authors: Le Fevre, Anna; Beygo, Jasmin; Silveira, Cheryl; Kamien, Benjamin; Clayton‐Smith, Jill; Colley, Alison; Buiting, Karin; Dudding‐Byth, Tracy Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy. Issue 3 (19th December 2013) Authors: Kamien, Benjamin; Harraway, James; Lundie, Ben; Smallhorne, Lex; Gibbs, Vicki; Heath, Anna; Fullerton, Janice M. Journal: American journal of medical genetics Issue: Volume 164:Issue 3(2014.) Page Start: 782 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy: Additional information. (2nd April 2015) Authors: Kamien, Benjamin; Harraway, James; Lundie, Ben; Smallhorne, Lex; Gibbs, Vicki; Heath, Anna; Fullerton, Janice M. Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A). (20th October 2020) Authors: Kaur, Simranpreet; Van Bergen, Nicole J.; Ben-Zeev, Bruria; Leonardi, Emanuela; Tan, Tiong Y.; Coman, David; Kamien, Benjamin; White, Susan M.; St John, Miya; Phelan, Dean; Rigbye, Kristin; Lim, Sze Chern; Torres, Michelle C.; Marty, Melanie; Savva, Elena; Zhao, Teresa; Massey, Sean; Murgia, Ales... Journal: Journal of genetics and genomics Issue: Volume 47:Number 10(2020) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome. Issue 4 (6th March 2014) Authors: Piras, Roberta; Chiappe, Francesca; Torraca, Ilaria La; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin, Mustafa Ali; Basel‐Vanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingold‐Zadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara, Çiğdem Seher; Kılıç, E... Journal: Human mutation Issue: Volume 35:Issue 4(2014:Apr.) Page Start: 424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. Issue 22 (25th June 2021) Authors: Ravindran, Ethiraj; Jühlen, Ramona; Vieira-Vieira, Carlos H; Ha, Thuong; Salzberg, Yuval; Fichtman, Boris; Luise-Becker, Lena; Martins, Nuno; Picker-Minh, Sylvie; Bessa, Paraskevi; Arts, Peer; Jackson, Matilda R; Taranath, Ajay; Kamien, Benjamin; Barnett, Christopher; Li, Na; Tarabykin, Victor; S... Journal: Human molecular genetics Issue: Volume 30:Issue 22(2021) Page Start: 2068 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Fatal Exsanguination Following Rupture of an Iliac Artery Aneurysm in an Infant With Menkes Disease. (October 2019) Authors: Ng, Rachel; Eliezer, Dilharan; Vilain, Ricardo; Kamien, Benjamin; Deshpande, Aniruddh V Journal: Pediatric and developmental pathology Issue: Volume 22:Number 5(2019) Page Start: 486 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Outfoxed by RBFOX1‐A caution about ascertainment bias. Issue 6 (24th March 2014) Authors: Kamien, Benjamin; Lionel, Anath C.; Bain, Nicole; Scherer, Stephen W.; Hunter, Matthew Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1411 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗