1. A homozygous truncating NALCN variant in two Afro‐Caribbean siblings with hypotonia and dolichocephaly. Issue 8 (2nd July 2020) Authors: Ope, Omotayo; Bhoj, Elizabeth J.; Nelson, Beverly; Li, Dong; Hakonarson, Hakon; Sobering, Andrew K. Journal: American journal of medical genetics Issue: Volume 182:Issue 8(2020) Page Start: 1877 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual. Issue 1 (23rd September 2022) Authors: Maj, Mary; Taylor, Christie L.; Landau, Kevin; Toriello, Helga V.; Li, Dong; Bhoj, Elizabeth J.; Hakonarson, Hakon; Nelson, Beverly; Gluschitz, Sarah; Walker, Ruth H.; Sobering, Andrew K. Journal: Molecular genetics & genomic medicine Issue: Volume 11:Issue 1(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay. Issue 4 (21st February 2022) Authors: Verdi, Giavanna; Li, Dong; Elsea, Sarah H.; Nelson, Beverly; Bhoj, Elizabeth J.; Hakonarson, Hakon; Yearwood, Katherine R.; Upadhya, Sharmila; Gluschitz, Sarah; Smith, Janice L.; Sobering, Andrew K. Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 4(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Issue 7 (5th June 2020) Authors: Wenger, Tara L.; Bly, Randall A.; Wu, Natalie; Albert, Catherine M.; Park, Julie; Shieh, Joseph; Chenbhanich, Jirat; Heike, Carrie L.; Adam, Margaret P.; Chang, Irene; Sun, Angela; Miller, Danny E.; Beck, Anita E.; Gupta, Deepti; Boos, Markus D.; Zackai, Elaine H.; Everman, David; Ganapathi, Shir... Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. Issue 4 (26th March 2021) Authors: Alsharhan, Hind; He, Miao; Edmondson, Andrew C.; Daniel, Earnest J. P.; Chen, Jie; Donald, Tyhiesia; Bakhtiari, Somayeh; Amor, David J.; Jones, Elizabeth A.; Vassallo, Grace; Vincent, Marie; Cogné, Benjamin; Deb, Wallid; Werners, Arend H.; Jin, Sheng C.; Bilguvar, Kaya; Christodoulou, John; Webst... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 4(2021) Page Start: 1001 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (). Issue 9 (2nd August 2018) Authors: Chitayat, David; Shannon, Patrick; Uster, Tami; Nezarati, Marjan M.; Schnur, Rhonda E.; Bhoj, Elizabeth J. Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 2041 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (2018). Issue 9 (2nd August 2018) Authors: Chitayat, David; Shannon, Patrick; Uster, Tami; Nezarati, Marjan M.; Schnur, Rhonda E.; Bhoj, Elizabeth J. Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 2041 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. An Algorithm for the Assessment of Facial Asymmetry in Children With Focus on Etiology and Treatment. (March 2019) Authors: Wenger, Tara L.; Gallagher, Emily R.; Bhoj, Elizabeth J. Journal: Cleft palate-craniofacial journal Issue: Volume 56:Number 3(2019) Page Start: 419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals. Issue 2 (15th October 2015) Authors: Ryan, Kaitlin M.; Ellis, Alexander R.; Raafat, Reem; Bhoj, Elizabeth J.; Hakonarson, Hakon; Li, Dong; Schrier Vergano, Samantha Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 482 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family. Issue 8 (8th June 2020) Authors: Thompson, Wayne; Carey, Patrick Z.; Donald, Tyhiesia; Nelson, Beverly; Bhoj, Elizabeth J.; Li, Dong; Hakonarson, Hakon; Ramirez, Maricela; Elsea, Sarah H.; Smith, Janice L.; Carey, John C.; Sobering, Andrew K. Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 8(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗