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Author/Creator Hoffner, Lori

1. Comprehensive genotype–phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation. Issue 9 (5th August 2014)

Authors:
Nguyen, Ngoc Minh Phuong; Zhang, Li; Reddy, Ramesh; Déry, Christine; Arseneau, Jocelyne; Cheung, Annie; Surti, Urvashi; Hoffner, Lori; Seoud, Muhieddine; Zaatari, Ghazi; Bagga, Rashmi; Srinivasan, Radhika; Coullin, Philippe; Ao, Asangla; Slim, Rima
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 9(2014)
Page Start:
623
Record Type:
Journal Article
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2. Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea. Issue 4 (5th March 2021)

Authors:
Liao, Jun; Coffman, Keith A.; Locker, Joseph; Padiath, Quasar S.; Nmezi, Bruce; Filipink, Robyn A.; Hu, Jie; Sathanoori, Malini; Madan‐Khetarpal, Suneeta; McGuire, Marianne; Schreiber, Allison; Moran, Rocio; Friedman, Neil; Hoffner, Lori; Rajkovic, Aleksandar; Yatsenko, Svetlana A.; Surti, Urvashi
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 4(2021)
Page Start:
n/a
Record Type:
Journal Article
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3. Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes. Issue 12 (10th October 2018)

Authors:
Carson, Jason C.; Hoffner, Lori; Conlin, Laura; Parks, W. Tony; Fisher, Rosemary A.; Spinner, Nancy; Yatsenko, Svetlana A.; Bonadio, Jeffrey; Surti, Urvashi
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2720
Record Type:
Journal Article
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4. Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing. Issue 4 (8th January 2020)

Authors:
Hu, Jie; Ou, Zhishuo; Surti, Urvashi; Kochmar, Sally; Hoffner, Lori; Madan‐Khetarpal, Suneeta; Arnold, Georgianne L.; Walsh, Leslie; Acquaro, Roxanne; Sebastian, Jessica; Yatsenko, Svetlana A.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 4(2020)
Page Start:
813
Record Type:
Journal Article
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6. NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage. Issue 8 (9th June 2011)

Authors:
Messaed, Christiane; Chebaro, Wafaa; Roberto, Raphael B Di; Rittore, Cecile; Cheung, Annie; Arseneau, Jocelyne; Schneider, Ariel; Chen, Moy Fong; Bernishke, Kurt; Surti, Urvashi; Hoffner, Lori; Sauthier, Philippe; Buckett, William; Qian, JianHua; Lau, Nga Man; Bagga, Rashmi; Engert, James C; Coul...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 8(2011)
Page Start:
540
Record Type:
Journal Article
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