1. Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy. (19th December 2013) Authors: Bowden, Sasigarn A.; Cozzi, Corin; Hickey, Scott E.; Thrush, Devon Lamb; Astbury, Caroline; Nuthakki, Sushma Other Names: Boyanov M. A. Academic Editor.; Isozaki O. Academic Editor.; Nagase T. Academic Editor.; Usui T. Academic Editor. Journal: Case reports in endocrinology Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome. Issue 9 (29th July 2013) Authors: Hickey, Scott E.; Walters‐Sen, Lauren; Mosher, Theresa Mihalic; Pfau, Ruthann B.; Pyatt, Robert; Snyder, Pamela J.; Sotos, Juan F.; Prior, Thomas W. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X‐linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome. Issue 9 (29th July 2013) Authors: Hickey, Scott E.; Walters‐Sen, Lauren; Mosher, Theresa Mihalic; Pfau, Ruthann B.; Pyatt, Robert; Snyder, Pamela J.; Sotos, Juan F.; Prior, Thomas W. Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2294 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation. Issue 6 (3rd September 2021) Authors: Nolan, Daniel K.; Chaudhari, Bimal; Franklin, Samuel J.; Wijeratne, Saranga; Pfau, Ruthann; Mihalic Mosher, Theresa; Crist, Erin; McBride, Kim L.; White, Peter; Wilson, Richard K.; Hickey, Scott E.; Koboldt, Daniel C. Journal: Clinical genetics Issue: Volume 100:Issue 6(2021) Page Start: 775 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome. (December 2020) Authors: Hickey, Scott E.; Kellogg, Brian; O'Brien, Meghan; Hall, Courtney; Kirschner, Richard E.; Santoro, Stephanie L.; Leonard, Hayley; Baylis, Adriane L. Journal: Cleft palate-craniofacial journal Issue: Volume 57:Number 12(2020) Page Start: 1362 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Issue 4 (8th February 2021) Authors: Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H.; Hickey, Scott E.; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A.; Armstrong‐Javors, Amy; Mencacci, Niccolò E.; Gonzàlez‐Latapi, Paulina; Kamel, Walaa A.; Al‐H... Journal: Annals of neurology Issue: Volume 89:Issue 4(2021) Page Start: 828 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Issue 2 (11th February 2022) Authors: Abreu, Nicolas J.; Siemon, Amy E.; Baylis, Adriane L.; Kirschner, Richard E.; Pfau, Ruthann B.; Ho, Mai‐Lan; Hickey, Scott E.; Truxal, Kristen V. Journal: Clinical case reports Issue: Volume 10:Issue 2(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗