1. A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening. Issue 2 (13th December 2022) Authors: Vocke, Cathy D.; Fleming, Leah R.; Piskorski, Anna M.; Amin, Ali; Phornphutkul, Chanika; de la Monte, Suzanne; Vilboux, Thierry; Duncan, Folami; Pellegrino, Joan; Braddock, Bonnie; Middelton, Lindsay A.; Schmidt, Laura S.; Merino, Maria J.; Cowen, Edward W.; Introne, Wendy J.; Linehan, W. Marston... Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 490 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chediak-Higashi syndrome: A review of the past, present, and future. (2020) Authors: Sharma, Prashant; Nicoli, Elena-Raluca; Serra-Vinardell, Jenny; Morimoto, Marie; Toro, Camilo; Malicdan, May Christine V.; Introne, Wendy J. Journal: Drug discovery today Issue: Volume 31(2020) Page Start: 31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chediak‐Higashi syndrome presenting as young‐onset levodopa‐responsive parkinsonism. Issue 2 (23rd February 2013) Authors: Bhambhani, Vikas; Introne, Wendy J.; Lungu, Codrin; Cullinane, Andrew; Toro, Camilo Journal: Movement disorders Issue: Volume 28:Issue 2(2013) Page Start: 127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diagnosis of Chediak Higashi disease in a 67‐year old woman. Issue 12 (29th September 2020) Authors: Yarnell, David S.; Roney, Joseph C.; Teixeira, Cláudia; Freitas, Maria I.; Cipriano, Ana; Leuschner, Pedro; Krzewski, Konrad; Stephen, Joshi; Dorward, Heidi; Gahl, William A.; Gochuico, Bernadette R.; Toro, Camilo; Malicdan, May C.; Introne, Wendy J. Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 3007 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic variants associated with Hermansky-Pudlak syndrome. (18th May 2020) Authors: Merideth, Melissa A.; Introne, Wendy J.; Wang, Jennifer A.; O'Brien, Kevin J.; Huizing, Marjan; Gochuico, Bernadette R. Journal: Platelets Issue: Volume 31:Number 4(2020) Page Start: 544 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic variants associated with Hermansky-Pudlak syndrome. (18th May 2020) Authors: Merideth, Melissa A.; Introne, Wendy J.; Wang, Jennifer A.; O'Brien, Kevin J.; Huizing, Marjan; Gochuico, Bernadette R. Journal: Platelets Issue: Volume 31:Number 4(2020) Page Start: 544 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Neurologic involvement in patients with atypical Chediak-Higashi disease. (14th February 2017) Authors: Introne, Wendy J.; Westbroek, Wendy; Groden, Catherine A.; Bhambhani, Vikas; Golas, Gretchen A.; Baker, Eva H.; Lehky, Tanya J.; Snow, Joseph; Ziegler, Shira G.; Malicdan, May Christine V.; Adams, David R.; Dorward, Heidi M.; Hess, Richard A.; Huizing, Marjan; Gahl, William A.; Toro, Camilo Journal: Neurology Issue: Volume 88:Number 7(2017) Page Start: e57 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Neurologic involvement in patients with atypical Chediak-Higashi disease. (5th April 2016) Authors: Introne, Wendy J.; Westbroek, Wendy; Cullinane, Andrew R.; Groden, Catherine A.; Bhambhani, Vikas; Golas, Gretchen A.; Baker, Eva H.; Lehky, Tanya J.; Snow, Joseph; Ziegler, Shira G.; Adams, David R.; Dorward, Heidi M.; Hess, Richard A.; Huizing, Marjan; Gahl, William A.; Toro, Camilo Journal: Neurology Issue: Volume 86:Number 14(2016)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Peripheral nervous system manifestations of Chediak‐Higashi disease. Issue 3 (16th December 2016) Authors: Lehky, Tanya J.; Groden, Catherine; Lear, Barbara; Toro, Camilo; Introne, Wendy J. Journal: Muscle & nerve Issue: Volume 55:Issue 3(2017) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. Issue 12 (4th October 2018) Authors: Han, Chen G.; O'Brien, Kevin J.; Coon, Lea M.; Majerus, Julie A.; Huryn, Laryssa A.; Haroutunian, Sara G.; Moka, Nagabhishek; Introne, Wendy J.; Macnamara, Ellen; Gahl, William A.; Malicdan, May Christine V.; Chen, Dong; Krishnan, Koyamangalath; Gochuico, Bernadette R. Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2819 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗