1. 4q12–4q21.21 deletion genotype–phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency. (29th October 2014) Authors: Hemati, Parisa; du Souich, Christèle; Boerkoel, Cornelius F. Journal: American journal of medical genetics Issue: Volume 167:Number 1(2015:Jan.) Page Start: 231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature2. Issue 6 (25th March 2014) Authors: Brown, Lindsay A.; Rupps, Rosemarie; Peñaherrera, Maria S.; Robinson, Wendy P.; Patel, Millan S.; Eydoux, Patrice; Boerkoel, Cornelius F. Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1587 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An approach to rapid characterization of DMD copy number variants for prenatal risk assessment. Issue 8 (21st May 2021) Authors: Chin, Hui‐Lin; O'Neill, Kieran; Louie, Kristal; Brown, Lindsay; Schlade‐Bartusiak, Kamilla; Eydoux, Patrice; Rupps, Rosemarie; Farahani, Ali; Boerkoel, Cornelius F.; Jones, Steven J. M. Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2541 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?. Issue 3 (26th November 2021) Authors: Chin, Hui‐Lin; Huynh, Stephanie; Ashkani, Jahanshah; Castaldo, Michael; Dixon, Katherine; Selby, Kathryn; Shen, Yaoqing; Wright, Marie; Boerkoel, Cornelius F.; Hendson, Glenda; Jones, Steven J. M. Journal: American journal of medical genetics Issue: Volume 188:Issue 3(2022) Page Start: 926 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bone marrow transplantation in Schimke immuno‐osseous dysplasia. Issue 10 (15th August 2013) Authors: Baradaran‐Heravi, Alireza; Lange, Jonas; Asakura, Yumi; Cochat, Pierre; Massella, Laura; Boerkoel, Cornelius F. Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?. Issue 10 (10th August 2022) Authors: Gazzaz, Nour; Frost, F. Graeme; Alderman, Emily; Richmond, Phillip A.; Dalmann, Joshua; Lin, Susan; Salman, Areesha; Del Bel, Kate L.; Lehman, Anna; Turvey, Stuart E.; Boerkoel, Cornelius F.; Cherukuri, Praveen F. Journal: American journal of medical genetics Issue: Volume 188:Issue 10(2022) Page Start: 3089 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia. (1st November 2016) Authors: Morimoto, Marie; Choi, Kunho; Boerkoel, Cornelius F.; Cho, Kyoung Sang Journal: Nucleus Issue: Volume 7:Number 6(2016) Page Start: 560 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Coffin‐Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation. Issue 7 (3rd April 2014) Authors: Tzeng, Michael; du Souich, Christèle; Cheung, Helen Wing‐Hong; Boerkoel, Cornelius F. Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1808 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome. (3rd July 2015) Authors: Welinder, Lotte G.; Robitaille, Johane M.; Rupps, Rosemarie; Boerkoel, Cornelius F.; Lyons, Christopher J. Journal: Ophthalmic genetics Issue: Volume 36:Number 3(2015:Sep.) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. Issue 11 (22nd September 2014) Authors: Shehata, Laila; Simeonov, Dimitre R.; Raams, Anja; Wolfe, Lynne; Vanderver, Adeline; Li, Xueli; Huang, Yan; Garner, Shannon; Boerkoel, Cornelius F.; Thurm, Audrey; Herman, Gail E.; Tifft, Cynthia J.; He, Miao; Jaspers, Nicolaas G.J.; Gahl, William A. Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2892 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗