Items where Author is "Sticht, Heinrich"

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clinical genetics copy-number de novo variants developmental diagnostics FBXO11 genetic counseling genome-wide haploinsufficiency HEK293T cells intellectual disability MCPH MED13L mitochondria neurodevelopmental disorder patch clamp primary microcephaly SCN2A variants secondary microcephaly

Number of items: 19.

clinical genetics

Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Oneda, Beatrice, Joset, Pascal, Azzarello-Burri, Silvia, Bartholdi, Deborah, Steindl, Katharina, Vincent, Marie, Cobilanschi, Joana, Sticht, Heinrich, Baldinger, Rosa, Reissmann, Regina, Sudholt, Irene, Thiel, Christian T, Ekici, Arif B, Reis, André, Bijlsma, Emilia K, Andrieux, Joris, Dieux, Anne, FitzPatrick, David, Ritter, Susanne, Baumer, Alessandra, Latal, Beatrice, Plecko, Barbara, Jenni, Oskar G and Rauch, Anita (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51 (10). pp. 677-688. ISSN 0022-2593 (Print), 1468-6244 (Online) (doi:https://doi.org/10.1136/jmedgenet-2014-102588)

copy-number

de novo variants

Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cogné, Benjamin, Dallapiccola, Bruno, Distelmaier, Felix, Elmslie, Frances, Faivre, Laurence, Haack, Tobias B., Harrison, Victoria, Henderson, Alex, Hunt, David, Isidor, Bertrand, Joset, Pascal, Kumada, Satoko, Lachmeijer, Augusta M.A., Lees, Melissa, Lynch, Sally Ann, Martinez, Francisco, Matsumoto, Naomichi, McDougall, Carey, Mefford, Heather C., Miyake, Noriko, Myers, Candace T., Moutton, Sébastien, Nesbitt, Addie, Novelli, Antonio, Orellana, Carmen, Rauch, Anita, Rosello, Monica, Saida, Ken, Santani, Avni B., Sarkar, Ajoy, Scheffer, Ingrid E., Shinawi, Marwan, Steindl, Katharina, Symonds, Joseph D., Zackai, Elaine H., Reis, André, Sticht, Heinrich and Zweier, Christiane (2018) De Novo Variants in the F-Box Protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder. American Journal of Human Genetics, 103 (2). pp. 305-316. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2018.07.003)

developmental

diagnostics

FBXO11

genetic counseling

Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H.C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza ORCID: 0000-0002-1497-0564 and Rauch, Anita (2019) Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21 (9). pp. 2043-2058. ISSN 1098-3600 (Print), 1530-0366 (Online) (doi:https://doi.org/10.1038/s41436-019-0464-7)

genome-wide

haploinsufficiency

Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Zweier, Markus, Gogoll, Laura, Schiffmann, Raphael, Sticht, Heinrich ORCID: 0000-0001-5644-045X , Steindl, Katharina and Rauch, Anita (2017) Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. European Journal of Medical Genetics, 60 (9). pp. 451-464. ISSN 1769-7212 (doi:https://doi.org/10.1016/j.ejmg.2017.06.004)

HEK293T cells

Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Sticht, Heinrich, Zeilhofer, Hanns Ulrich and Rauch, Anita (2019) Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25 (1). ISSN 1076-1551 (Print), 1528-3658 (Online) (doi:https://doi.org/10.1186/s10020-019-0073-6)

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