Items where Greenwich Author is "Asadollahi, Dr Reza"
![]() | Up a level |
2023
Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Delvendahl, Igor, Muff, Rebecca, Tan, Ge, Rodríguez, Daymé González, Turan, Soeren, Russo, Martina, Oneda, Beatrice, Joset, Pascal, Boonsawat, Paranchai, Masood, Rahim, Mocera, Martina, Ivanovski, Ivan, Baumer, Alessandra, Bachmann-Gagescu, Ruxandra, Schlapbach, Ralph, Rehrauer, Hubert, Steindl, Katharina, Begemann, Anaïs, Reis, André, Winkler, Jürgen, Winner, Beate, Müller, Martin and Rauch, Anita
(2023)
Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.
Human Molecular Genetics, 32 (13).
pp. 2192-2204.
ISSN 0964-6906 (Print), 1460-2083 (Online)
(doi:https://doi.org/10.1093/hmg/ddad048)
2021
Krumm, Laura, Pozner, Tatyana, Kaindl, Johanna, Regensburger, Martin, Günther, Claudia, Turan, Soeren, Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Rauch, Anita and Winner, Beate
(2021)
Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in.
Stem Cell Research, 56:102520.
ISSN 1873-5061
(doi:https://doi.org/10.1016/j.scr.2021.102520)
Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S, Soucy, Aubrie, Genetti, Casie A, Suslovitch, Victoria, Rodan, Lance H, Tiller, George E, Lesca, Gaetan, Gripp, Karen W, Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Hamosh, Ada, Applegate, Carolyn D, Turnpenny, Peter D, Simon, Marleen E H, Volker-Touw, Catharina M L, Van Gassen, Koen L I, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, De Vries, Bert B A, Immken, LaDonna L, Buchanan, Catherine, Willing, Marcia, Toler, Tomi L, Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus Jr, Julian L, Fannemel, Madeleine, Posey, Jennifer E, Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R, Larsen, Martin J, Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K, Walsh, Laurence E, Aldinger, Kimberly A, Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P, Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Abou Jamra, Rami, Dobyns, William B, Cohen, Lilian L, Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B, Beggs, Alan H and Yu, Timothy W
(2021)
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Genetics in Medicine, 23 (6).
pp. 1028-1040.
ISSN 1098-3600 (Print), 1530-0366 (Online)
(doi:https://doi.org/10.1038/s41436-021-01114-z)
2020
Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Britschgi, Christian, Joset, Pascal, Oneda, Beatrice, Schindler, Detlev
ORCID: 0000-0003-2451-8165
, Meier, Urs R. and Rauch, Anita
ORCID: 0000-0003-2930-3163
(2020)
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene).
Molecular Genetics and Genomic Medicine, 8 (10):e1409.
ISSN 2324-9269 (Online)
(doi:https://doi.org/10.1002/mgg3.1409)
2019
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)
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)
2018
Popp, Bernt
ORCID: 0000-0002-3679-1081
, Krumbiegel, Mandy, Grosch, Janina, Sommer, Annika, Uebe, Steffen, Kohl, Zacharias
ORCID: 0000-0002-4147-8866
, Plötz, Sonja, Farrell, Michaela, Trautmann, Udo, Kraus, Cornelia, Ekici, Arif B.
ORCID: 0000-0001-6099-7066
, Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Regensburger, Martin
ORCID: 0000-0002-2172-7386
, Günther, Katharina, Rauch, Anita, Edenhofer, Frank, Winkler, Jürgen, Winner, Beate and Reis, André
ORCID: 0000-0002-6301-6363
(2018)
Need for high-resolution genetic analysis in iPSC: results and lessons from the ForIPS consortium.
Scientific reports, 8:17201.
ISSN 2045-2322 (Online)
(doi:https://doi.org/10.1038/s41598-018-35506-0)
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)
Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Strauss, Justin E, Zenker, Martin, Beuing, Oliver
ORCID: 0000-0001-8033-063X
, Edvardson, Simon, Elpeleg, Orly, Strom, Tim M, Joset, Pascal, Niedrist, Dunja, Otte, Christine, Oneda, Beatrice, Boonsawat, Paranchai, Azzarello-Burri, Silvia, Bartholdi, Deborah, Papik, Michael, Zweier, Markus, Haas, Cordula, Ekici, Arif B
ORCID: 0000-0001-6099-7066
, Baumer, Alessandra, Boltshauser, Eugen, Steindl, Katharina, Nothnagel, Michael
ORCID: 0000-0001-8305-7114
, Schinzel, Albert, Stoeckli, Esther T and Rauch, Anita
ORCID: 0000-0003-2930-3163
(2018)
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
European Journal of Human Genetics, 26 (2).
pp. 197-209.
ISSN 1018-4813 (Print), 1476-5438 (Online)
(doi:https://doi.org/10.1038/s41431-017-0019-9)
2017
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)
2016
Asadollahi, Reza
ORCID: 0000-0002-1497-0564
(2016)
Inspirations in medical genetics.
Journal of Medical Biography, 24 (1).
pp. 138-140.
ISSN 0967-7720 (Print), 1758-1087 (Online)
(doi:https://doi.org/10.1177/0967772014525097)
2014
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)
2013
Asadollahi, Reza
ORCID: 0000-0002-1497-0564
, Oneda, Beatrice, Sheth, Frenny, Azzarello-Burri, Silvia, Baldinger, Rosa, Joset, Pascal, Latal, Beatrice, Knirsch, Walter, Desai, Soaham, Baumer, Alessandra, Houge, Gunnar, Andrieux, Joris and Rauch, Anita
(2013)
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
European Journal of Human Genetics, 21 (10).
pp. 1100-1104.
ISSN 1018-4813 (Print), 1476-5438 (Online)
(doi:https://doi.org/10.1038/ejhg.2013.17)
Asadollahi, Reza
ORCID: 0000-0002-1497-0564
and Asadollahi, Hamid
(2013)
Avicenna’s view on medical genetics.
Genetics in Medicine, 15 (5).
pp. 410-411.
ISSN 1098-3600 (Print), 1530-0366 (Online)
(doi:https://doi.org/10.1038/gim.2013.27)