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Author/Creator Lalani, Seema

1. Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum. Issue 6 (14th October 2022)

Authors:
Xu, Weiyi; Graves, Andrea; Weisz-Hubshman, Monika; Hegazy, Lamees; Magyar, Christina; Liu, Zian; Nasiotis, Eleni; Samee, Md Abul Hassan; Burris, Thomas; Lalani, Seema; Zhang, Lilei
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 6(2023)
Page Start:
959
Record Type:
Journal Article
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2. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Issue 5 (7th February 2020)

Authors:
Scott, Tiana M.; Guo, Hui; Eichler, Evan E.; Rosenfeld, Jill A.; Pang, Kaifang; Liu, Zhandong; Lalani, Seema; Bi, Weimin; Yang, Yaping; Bacino, Carlos A.; Streff, Haley; Lewis, Andrea M.; Koenig, Mary K.; Thiffault, Isabelle; Bellomo, Allison; Everman, David B.; Jones, Julie R.; Stevenson, Roger ...
Journal:
Human mutation
Issue:
Volume 41:Issue 5(2020)
Page Start:
921
Record Type:
Journal Article
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3. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Issue 1 (December 2016)

Authors:
Eldomery, Mohammad; Akdemir, Zeynep; Vögtle, F.-Nora; Charng, Wu-Lin; Mulica, Patrycja; Rosenfeld, Jill; Gambin, Tomasz; Gu, Shen; Burrage, Lindsay; Al Shamsi, Aisha; Penney, Samantha; Jhangiani, Shalini; Zimmerman, Holly; Muzny, Donna; Wang, Xia; Tang, Jia; Medikonda, Ravi; Ramachandran, Prasann...
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗