Publications:

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Npj Genomic Medicine

Boonsawat, Paranchai P; Horn, Anselm H C AHC; Steindl, Katharina K; Baumer, Alessandra A; Joset, Pascal P; Kraemer, Dennis D; Bahr, Angela A; Ivanovski, Ivan I; Cabello, Elena M EM; Papik, Michael M; Zweier, Markus M; Oneda, Beatrice B; Sirleto, Pietro P; Burkhardt, Tilo T; Sticht, Heinrich H; Rauch, Anita A

Publication Date: 2022-07-29

Variant appearance in text: CFTR: 2395C>G; Gln799Glu

PubMed Link: 35906228

Variant Present in the following documents:

• 41525_2022_316_MOESM3_ESM.xlsx, sheet 4

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First custom next-generation sequencing infertility panel in Latin America: design and first results.

Jbra Assisted Reproduction

Lorenzi, Daniela D; Fernández, Cecilia C; Bilinski, Melina M; Fabbro, Mónica M; Galain, Micaela M; Menazzi, Sebastián S; Miguens, Mariana M; Perassi, Pamela Nicotra PN; Fulco, María Florencia MF; Kopelman, Susana S; Fiszbajn, Gabriel G; Nodar, Florencia F; Papier, Sergio S

Publication Date: 2020-05-01

Variant appearance in text: CFTR: 2395C>G; Gln799Glu

PubMed Link: 32155011

Variant Present in the following documents:

• Main text
• jbra-24-02-0104.pdf

View BVdb publication page