1. 10‐year‐old female with intragenic KANSL1 mutation, no KANSL1‐related intellectual disability, and preserved verbal intelligence. Issue 3 (17th February 2017) Authors: Keen, Colleen; Samango‐Sprouse, Carole; Dubbs, Holly; Zackai, Elaine H. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 762 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 10‐year‐old female with intragenic KANSL1 mutation, no KANSL1‐related intellectual disability, and preserved verbal intelligence. Issue 3 (March 2017) Authors: Keen, Colleen; Samango‐Sprouse, Carole; Dubbs, Holly; Zackai, Elaine H. Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 762 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CMIP haploinsufficiency in two patients with autism spectrum disorder and co‐occurring gastrointestinal issues. Issue 8 (15th May 2017) Authors: Luo, Minjie; Fan, Jinbo; Wenger, Tara L.; Harr, Margaret H.; Racobaldo, Melissa; Mulchandani, Surabhi; Dubbs, Holly; Zackai, Elaine H.; Spinner, Nancy B.; Conlin, Laura K. Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019) Authors: Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr... Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019) Authors: Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr... Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. (November 2018) Authors: Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S; Pennington, Jeffrey; Luo, Minjie; Con... Journal: Genetics in medicine Issue: Volume 20:Number 11(2018) Page Start: 1486 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data. (October 2018) Authors: Gibson, Kristin McDonald; Nesbitt, Addie; Cao, Kajia; Yu, Zhenming; Denenberg, Elizabeth; DeChene, Elizabeth; Guan, Qiaoning; Bhoj, Elizabeth; Zhou, Xiangdong; Zhang, Bo; Wu, Chao; Dubbs, Holly; Wilkens, Alisha; Medne, Livija; Bedoukian, Emma; White, Peter S; Pennington, Jeffrey; Lou, Minjie; Con... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1298 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. Defining the phenotypic spectrum of SLC6A1 mutations. (8th January 2018) Authors: Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna‐Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi‐Warde, Marie‐Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen‐Hann; Bird, Lynne ... Journal: Epilepsia Issue: Volume 59:issue 2(2018) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders. (25th June 2015) Authors: Nesbitt, Addie; Bhoj, Elizabeth J.; McDonald Gibson, Kristin; Yu, Zhenming; Denenberg, Elizabeth; Sarmady, Mahdi; Tischler, Tanya; Cao, Kajia; Dubbs, Holly; Zackai, Elaine H.; Santani, Avni Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗