1. Cover Image, Volume 176A, Number 7, July 2018. Issue 7 (16th July 2018) Authors: Chang, Irene J.; Sun, Angela; Bouchard, Maryse L.; Kamps, Shawn E.; Hale, Susan; Done, Stephen; Goldberg, Michael J.; Glass, Ian A. Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants. Issue 7 (16th July 2018) Authors: Chang, Irene J.; Sun, Angela; Bouchard, Maryse L.; Kamps, Shawn E.; Hale, Susan; Done, Stephen; Goldberg, Michael J.; Glass, Ian A. Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1675 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Recessive mutations in >VPS13D cause childhood onset movement disorders. Issue 6 (10th April 2018) Authors: Gauthier, Julie; Meijer, Inge A.; Lessel, Davor; Mencacci, Niccolò E.; Krainc, Dimitri; Hempel, Maja; Tsiakas, Konstantinos; Prokisch, Holger; Rossignol, Elsa; Helm, Margaret H.; Rodan, Lance H.; Karamchandani, Jason; Carecchio, Miryam; Lubbe, Steven J.; Telegrafi, Aida; Henderson, Lindsay B.; Lo... Journal: Annals of neurology Issue: Volume 83:Issue 6(2018) Page Start: 1089 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The spectrum of brain malformations and disruptions in twins. Issue 9 (18th November 2020) Authors: Park, Kaylee B.; Chapman, Teresa; Aldinger, Kimberly A.; Mirzaa, Ghayda M.; Zeiger, Jordan; Beck, Anita; Glass, Ian A.; Hevner, Robert F.; Jansen, Anna C.; Marshall, Desiree A.; Oegema, Renske; Parrini, Elena; Saneto, Russell P.; Curry, Cynthia J.; Hall, Judith G.; Guerrini, Renzo; Leventer, Rich... Other Names: Burkardt Deepika D'Cunha guestEditor.; Sanchez‐Lara Pedro A guestEditor.; Girisha Katta M guestEditor.; Carey John C guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 9(2021) Page Start: 2690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Issue 8 (12th May 2016) Authors: Bi, Weimin; Glass, Ian A.; Muzny, Donna M.; Gibbs, Richard A.; Eng, Christine M.; Yang, Yaping; Sun, Angela Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mortality in Joubert syndrome. Issue 5 (28th March 2017) Authors: Dempsey, Jennifer C.; Phelps, Ian G.; Bachmann‐Gagescu, Ruxandra; Glass, Ian A.; Tully, Hannah M.; Doherty, Dan Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1237 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A unique cardiovascular presentation of Marfan syndrome. Issue 8 (9th June 2022) Authors: Otero Luna, Andrea; Park, Kaylee B.; Schauer, Jenna; Castera, Mark; Quintana Grijalba, Carolina; Chikkabyrappa, Sathish Mallenahalli; Tjoeng, Yuen Lie; Romberg, Erin K.; Olson, Aaron; Glass, Ian A.; Young, Luciana Journal: American journal of medical genetics Issue: Volume 188:Issue 8(2022) Page Start: 2443 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Microtomographic Analysis of Lower Urinary Tract Obstruction. (November 2013) Authors: Siebert, Joseph R.; Smith, Kenneth J.; Cox, Liza L.; Glass, Ian A.; Cox, Timothy C. Journal: Pediatric and developmental pathology Issue: Volume 16:Number 6(2013) Page Start: 405 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Healthcare recommendations for Joubert syndrome. Issue 1 (11th November 2019) Authors: Bachmann‐Gagescu, Ruxandra; Dempsey, Jennifer C.; Bulgheroni, Sara; Chen, Maida L.; D'Arrigo, Stefano; Glass, Ian A.; Heller, Theo; Héon, Elise; Hildebrandt, Friedhelm; Joshi, Nirmal; Knutzen, Dana; Kroes, Hester Y.; Mack, Stephen H.; Nuovo, Sara; Parisi, Melissa A.; Snow, Joseph; Summers, Angela... Journal: American journal of medical genetics Issue: Volume 182:Issue 1(2020) Page Start: 229 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Front Cover, Volume 40, Issue 10. Issue 10 (27th September 2019) Authors: Cox, Timothy C.; Lidral, Andrew C.; McCoy, Jason C.; Liu, Huan; Cox, Liza L.; Zhu, Ying; Anderson, Ryan D.; Moreno Uribe, Lina M.; Anand, Deepti; Deng, Mei; Richter, Chika T.; Nidey, Nichole L.; Standley, Jennifer M.; Blue, Elizabeth E.; Chong, Jessica X.; Smith, Joshua D.; Kirk, Edwin P.; Vensel... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗