Efrat Lev-Lehman
Baylor College of Medicine
6 Papers
7 Citations
Efrat Lev-Lehman is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: UBE3A & Angelman syndrome. The author has an hindex of 6, co-authored 6 publications. Previous affiliations of Efrat Lev-Lehman include Howard Hughes Medical Institute.
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Papers
The Spectrum of Mutations in UBE3A Causing Angelman Syndrome
Ping Fang,Efrat Lev-Lehman,Ting Fen Tsai,Toshinobu Matsuura,Toshinobu Matsuura,Claudia S. Benton,James S. Sutcliffe,James S. Sutcliffe,Susan L. Christian,Takeo Kubota,Dicky J. J. Halley,Hanne Meijers-Heijboer,Sylvie Langlois,John M. Graham,Joke Beuten,Patrick Willems,David H. Ledbetter,Arthur L. Beaudet +17 more
TL;DR: The analysis identified disease-causing mutations in 17 of 56 patients (30%) including 13 truncating mutations, two missense mutations, one single amino acid deletion and one stop codon mutation predicting an elongated protein.
NEUROGENETICS '99 Genetics of Angelman Syndrome
Yong-hui Jiang,Efrat Lev-Lehman,Jan Bressler,Ting Fen Tsai,Arthur L. Beaudet +4 more
- 01 Jan 1999
TL;DR: The imprinting center (IC) that regulates expression of genes in this region has been delineated, and a mouse model of the genetic defect has been characterized in detail, providing the first evidence for a mammalian gene that is required for long-term potentiation (LTP).
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Genetics of Angelman syndrome.
TL;DR: This work is supported by NIH grant HD 37283 and the authors thank Grace Watson for great assistance in preparation of the manuscript.
A Highly Significant Association between a COMT Haplotype and Schizophrenia
Sagiv Shifman,Michal Bronstein,Meira Sternfeld,Anne Pisanté-Shalom,Efrat Lev-Lehman,Avraham Weizman,Ilya Reznik,Baruch Spivak,Nimrod Grisaru,Leon Karp,Richard Schiffer,Moshe Kotler,Rael D. Strous,Marnina Swartz-Vanetik,Haim Y. Knobler,Eilat Shinar,Jacques S. Beckmann,Benjamin Yakir,Neil Risch,Naomi B. Zak,Ariel Darvasi +20 more
TL;DR: An efficient approach to gene discovery is reported that found a highly significant association between schizophrenia and a COMT haplotype and can be widely implemented for the genetic dissection of other common diseases.
Characterization of the human β4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4
TL;DR: Mutation analyses in the α3 and β4 genes in MMIHS families identified numerous genetic variants, including high-frequency polymorphisms in both CHRNA3 and CHRNB4.