1. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Issue 2 (25th November 2019) Authors: Ngo, Kathie J.; Rexach, Jessica E.; Lee, Hane; Petty, Lauren E.; Perlman, Susan; Valera, Juliana M.; Deignan, Joshua L.; Mao, Yuanming; Aker, Mamdouh; Posey, Jennifer E.; Jhangiani, Shalini N.; Coban‐Akdemir, Zeynep H.; Boerwinkle, Eric; Muzny, Donna; Nelson, Alexandra B.; Hassin‐Baer, Sharon; Po... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An infant with MLH3 variants, FOXG1‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Issue 2 (6th November 2015) Authors: Kansal, Rina; Li, Xinmin; Shen, Joseph; Samuel, David; Laningham, Fred; Lee, Hane; Panigrahi, Gagan B.; Shuen, Andrew; Kantarci, Sibel; Dorrani, Naghmeh; Reiss, Jean; Shintaku, Peter; Deignan, Joshua L.; Strom, Samuel P.; Pearson, Christopher E.; Vilain, Eric; Grody, Wayne W. Journal: Genes, chromosomes & cancer Issue: Volume 55:Issue 2(2016:Feb.) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders. Issue 1 (6th August 2015) Authors: Fogel, Brent L.; Lee, Hane; Strom, Samuel P.; Deignan, Joshua L.; Nelson, Stanley F. Other Names: Geschwind Daniel H. guestEditor. Journal: Annals of the New York Academy of Sciences Issue: Volume 1366:Issue 1(2016) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers. Issue 1 (7th November 2019) Authors: Eno, Celeste C.; Barton, Stacey K.; Dorrani, Naghmeh; Cederbaum, Stephen D.; Deignan, Joshua L.; Grody, Wayne W. Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 1(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Deaf Genetic Testing and Psychological Well‐Being in Deaf Adults. Issue 4 (21st February 2013) Authors: Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Deignan, Joshua L.; Kobayashi, Yoko; Sininger, Yvonne; Grody, Wayne; Sinsheimer, Janet S. Journal: Journal of genetic counseling Issue: Volume 22:Issue 4(2013) Page Start: 492 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing. Issue 8 (23rd June 2020) Authors: Schmidt, Johanna L.; Pizzino, Amy; Nicholl, Jessica; Foley, Allison; Wang, Yue; Rosenfeld, Jill A.; Mighion, Lindsey; Bean, Lora; da Silva, Cristina; Cho, Megan T.; Truty, Rebecca; Garcia, John; Speare, Virginia; Blanco, Kirsten; Powis, Zoe; Hobson, Grace M.; Kirwin, Susan; Krock, Bryan; Lee, Han... Journal: American journal of medical genetics Issue: Volume 182:Issue 8(2020) Page Start: 1906 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype. (23rd April 2019) Authors: Parker, John; Mozaffar, Tahseen; Messmore, Ashlynn; Deignan, Joshua L.; Kimonis, Virginia E.; Ringman, John M. Journal: Neuroscience letters Issue: Volume 699(2019) Page Start: 195 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Instability of a dinucleotide repeat in the 3′‐untranslated region (UTR) of the microsomal prostaglandin E synthase‐1 (mPGES‐1) gene in microsatellite instability‐high (MSI‐H) colorectal carcinoma. Issue 7 (5th March 2015) Authors: Cherukuri, Durga Prasad; Deignan, Joshua L.; Das, Kingshuk; Grody, Wayne W.; Herschman, Harvey Journal: Molecular oncology Issue: Volume 9:Issue 7(2015:Aug.) Page Start: 1252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular Diagnosis of Cystic Fibrosis. (15th February 2018) Authors: Deignan, Joshua L.; Grody, Wayne W. Editors: Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R. Journal: Current protocols in human genetics Issue: Volume 88(2016) Page Start: 9.28.1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Issue 11 (11th October 2018) Authors: Harrison, Steven M.; Dolinksy, Jill S.; Chen, Wenjie; Collins, Christin D.; Das, Soma; Deignan, Joshua L.; Garber, Kathryn B.; Garcia, John; Jarinova, Olga; Knight Johnson, Amy E.; Koskenvuo, Juha W.; Lee, Hane; Mao, Rong; Mar‐Heyming, Rebecca; McFaddin, Andrew S.; Moyer, Krista; Nagan, Narasimha... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1641 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗