1. An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist. Issue 4 (21st November 2020) Authors: Mena, Rafael; Mendoza, Esperanza; Gomez Peña, Maria; Valencia, C. Alexander; Ullah, Ehsan; Hufnagel, Robert B.; Prada, Carlos E. Other Names: Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.; Zarate Yuri A guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 4(2020) Page Start: 996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bilateral cataracts in a 6‐yr‐old with new onset diabetes: a novel presentation of a known INS gene mutation. Issue 7 (4th November 2015) Authors: Wasserman, Halley; Hufnagel, Robert B.; Miraldi Utz, Virginia; Zhang, Kejian; Valencia, C. Alexander; Leslie, Nancy D.; Crimmins, Nancy A. Journal: Pediatric diabetes Issue: Volume 17:Issue 7(2016) Page Start: 535 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations. Issue 1 (27th November 2014) Authors: Ankala, Arunkanth; Tamhankar, Parag M.; Valencia, C. Alexander; Rayam, Krishna K.; Kumar, Manisha M.; Hegde, Madhuri R. Journal: Human mutation Issue: Volume 36:Issue 1(2015:Jan.) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical utility of whole genome sequencing for the detection of mitochondrial genome mutations. (20th March 2020) Authors: Husami, Ammar; Slone, Jesse; Brown, Jenice; Bromwell, Meghan; Valencia, C. Alexander; Huang, Taosheng Journal: Journal of genetics and genomics Issue: Volume 47:Number 3(2020) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Comparison of medical management and genetic counseling options pre‐ and post‐whole exome sequencing for patients with positive and negative results. Issue 2 (16th January 2019) Authors: Matias, Margret; Wusik, Katie; Neilson, Derek; Zhang, Xue; Valencia, C. Alexander; Collins, Kathleen Journal: Journal of genetic counseling Issue: Volume 28:Issue 2(2019) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis. Issue 9 (October 2016) Authors: Palermo, Joseph J.; Lin, Tom K.; Hornung, Lindsey; Valencia, C. Alexander; Mathur, Abhinav; Jackson, Kimberly; Fei, Lin; Abu-El-Haija, Maisam Journal: Pancreas Issue: Volume 45:Issue 9(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pediatric Whole Exome Sequencing: an Assessment of Parents' Perceived and Actual Understanding. Issue 4 (16th December 2016) Authors: Tolusso, Leandra K.; Collins, Kathleen; Zhang, Xue; Holle, Jennifer R.; Valencia, C. Alexander; Myers, Melanie F. Journal: Journal of genetic counseling Issue: Volume 26:Issue 4(2017) Page Start: 792 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The 253‐kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. Issue 6 (28th January 2014) Authors: Qian, Yaping; Johnson, Judith A.; Connor, Jessica A.; Valencia, C. Alexander; Barasa, Nathaniel; Schubert, Jeffery; Husami, Ammar; Kissell, Diane; Zhang, Ge; Weirauch, Matthew T.; Filipovich, Alexandra H.; Zhang, Kejian Journal: Pediatric blood & cancer Issue: Volume 61:Issue 6(2014:Jun.) Page Start: 1034 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing. (20th June 2018) Authors: Brockhage, Rachel; Slone, Jesse; Ma, Zeqian; Hegde, Madhuri R.; Valencia, C. Alexander; Huang, Taosheng Journal: Journal of genetics and genomics Issue: Volume 45:Number 6(2018) Page Start: 333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Zebrafish abcb11b mutant reveals strategies to restore bile excretion impaired by bile salt export pump deficiency. Issue 4 (23rd February 2018) Authors: Ellis, Jillian L.; Bove, Kevin E.; Schuetz, Erin G.; Leino, Daniel; Valencia, C. Alexander; Schuetz, John D.; Miethke, Alexander; Yin, Chunyue Journal: Hepatology Issue: Volume 67:Issue 4(2018) Page Start: 1531 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗