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Annalisa G. Sega
Annalisa G. Sega
Yale University
Genetics
Biology
Gene
Mutation
Phenotype
4
Papers
20
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Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
2021
American Journal of Medical Genetics Part A
Emily K. Mis
Annalisa G. Sega
Rebecca Signer
Tracy Cartwright
Weizhen Ji
Julian A. Martinez-Agosto
Stanley F. Nelson
Christina G.S. Palmer
Hane Lee
Thomas Mitzelfelt
Monica Konstantino
Lauren Jeffries
Mustafa K. Khokha
Elysa J. Marco
Martin G. Martin
Saquib A. Lakhani
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Citations (1)
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
2019
Journal of Medical Genetics
Annalisa G. Sega
Emily K. Mis
Kristin Lindstrom
Saadet Mercimek-Andrews
Weizhen Ji
Megan T. Cho
Jane Juusola
Monica Konstantino
Lauren Jeffries
Mustafa K. Khokha
Saquib A. Lakhani
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Citations (15)
A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome
2019
Drug Metabolism and Disposition
Walaa Elfar
Erkka Järvinen
Weizhen Ji
Johanna Mosorin
Annalisa G. Sega
Alina C. Iuga
Steven J. Lobritto
Monica Konstantino
Albert Chan
Moshe Finel
Saquib A. Lakhani
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A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
2018
European Journal of Medical Genetics
Brent A. Penque
Leila Su
Jianghai Wang
Weizhen Ji
Allen E. Bale
Frank Luh
Robert K. Fulbright
Uzair Sarmast
Annalisa G. Sega
Monica Konstantino
Michele Spencer-Manzon
Richard W. Pierce
Yun Yen
Saquib A. Lakhani
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Citations (4)
1