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Author/Creator Bean, Lora

1. A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing. Issue 5 (19th March 2021)

Authors:
Nallamilli, Babi R. R.; Chaubey, Alka; Valencia, C. A.; Stansberry, Leah; Behlmann, Andrea M.; Ma, Zeqiang; Mathur, Abhinav; Shenoy, Suresh; Ganapathy, Vidya; Jagannathan, Lakshmanan; Ramachander, Vinish; Ferlini, Alessandra; Bean, Lora; Hegde, Madhuri
Journal:
Human mutation
Issue:
Volume 42:Issue 5(2021)
Page Start:
626
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. 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
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. Issue 12 (1st December 2018)

Authors:
Nallamilli, Babi Ramesh Reddy; Chakravorty, Samya; Kesari, Akanchha; Tanner, Alice; Ankala, Arunkanth; Schneider, Thomas; da Silva, Cristina; Beadling, Randall; Alexander, John J.; Askree, Syed Hussain; Whitt, Zachary; Bean, Lora; Collins, Christin; Khadilkar, Satish; Gaitonde, Pradnya; Dastur, R...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 5:Issue 12(2018)
Page Start:
1574
Record Type:
Journal Article
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4. Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods. Issue 8 (2nd December 2021)

Authors:
McKnight, Dianalee; Bean, Lora; Karbassi, Izabela; Beattie, Katelynn; Bienvenu, Thierry; Bonin, Hope; Fang, Ping; Chrisodoulou, John; Friez, Michael; Helgeson, Maria; Krishnaraj, Rahul; Meng, Linyan; Mighion, Lindsey; Neul, Jeffrey; Percy, Alan; Ramsden, Simon; Zoghbi, Huda; Das, Soma
Other Names:
Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 8(2022)
Page Start:
1097
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗