1. Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families. Issue 4 (17th February 2020) Authors: Pandya, Arti; O'Brien, Alexander; Kovasala, Michael; Bademci, Guney; Tekin, Mustafa; Arnos, Kathleen S. Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 4(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Analysis of risk factors associated with unilateral hearing loss in children who initially passed newborn hearing screening. (March 2018) Authors: Appelbaum, Eric N.; Howell, Jessica B.; Chapman, Derek; Pandya, Arti; Dodson, Kelley M. Journal: International journal of pediatric otorhinolaryngology Issue: Volume 106(2018:Mar.) Page Start: 100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). Issue 9 (22nd August 2020) Authors: Jayakody, Himali; Zarei, Sanam; Nguyen, Huy; Dalton, Joline; Chen, Kelly; Hudgins, Louanne; Day, John; Withrow, Kara; Pandya, Arti; Teasley, Jean; Dobyns, William B; Mathews, Katherine D; Moore, Steven A Journal: Journal of neuropathology and experimental neurology Issue: Volume 79:Issue 9(2020) Page Start: 998 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Co‐occurring Down syndrome and SUCLA2‐related mitochondrial depletion syndrome. Issue 10 (27th July 2017) Authors: Couser, Natario L.; Marchuk, Daniel S.; Smith, Laurie D.; Arreola, Alexandra; Kaiser‐Rogers, Kathleen A.; Muenzer, Joseph; Pandya, Arti; Gucsavas‐Calikoglu, Muge; Powell, Cynthia M. Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2720 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. Issue 6 (23rd April 2019) Authors: Rymer, Karen; Shiang, Rita; Hsiung, Anting; Pandya, Arti; Bigdeli, Tim; Webb, Bradley T.; Rhodes, Jennifer Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 6(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic hearing loss: the journey of discovery to destination – how close are we to therapy?. Issue 6 (November 2016) Authors: Pandya, Arti Journal: Molecular genetics & genomic medicine Issue: Volume 4:Issue 6(2016) Page Start: 583 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome. Issue 4 (13th February 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 925 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases. (6th April 2020) Authors: Kumar, Virang; Couser, Natario L.; Pandya, Arti Other Names: Johnson Sandra M. Academic Editor. Journal: Case reports in ophthalmological medicine Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The Clinical and Audiologic Features of Hearing Loss Due to Mitochondrial Mutations. Issue 6 (22nd March 2013) Authors: Yelverton, Joshua C.; Arnos, Kathleen; Xia, Xia‐Juan; Nance, Walter E.; Pandya, Arti; Dodson, Kelley M. Journal: Otolaryngology--head and neck surgery Issue: Volume 148:Issue 6(2013) Page Start: 1017 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗