Browse by Journal Title
![[up]](/style/images/multi_up.png)
Up a levelautism
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: https://orcid.org/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:10.1038/s41436-021-01114-z)
Avicenna
Asadollahi, Reza ORCID: https://orcid.org/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:10.1038/gim.2013.27)
CYFIP2
Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:10.1038/s41436-020-01011-x)
epilepsy
Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:10.1038/s41436-020-01011-x)
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: https://orcid.org/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:10.1038/s41436-019-0464-7)
history
Asadollahi, Reza ORCID: https://orcid.org/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:10.1038/gim.2013.27)
intellectual disability
Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:10.1038/s41436-020-01011-x)
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: https://orcid.org/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:10.1038/s41436-021-01114-z)
MCPH
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: https://orcid.org/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:10.1038/s41436-019-0464-7)
medical genetics
Asadollahi, Reza ORCID: https://orcid.org/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:10.1038/gim.2013.27)
mitochondria
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: https://orcid.org/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:10.1038/s41436-019-0464-7)
primary microcephaly
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: https://orcid.org/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:10.1038/s41436-019-0464-7)
RFX
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: https://orcid.org/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:10.1038/s41436-021-01114-z)
secondary microcephaly
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: https://orcid.org/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:10.1038/s41436-019-0464-7)
WASF
Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:10.1038/s41436-020-01011-x)
WAVE-regulatory complex (WRC)
Anaïs, Begemann, Heinrich, Sticht, Amber, Begtrup, Antonio, Vitobello, Laurence, Faivre, Siddharth, Banka, Bader, Alhaddad, Reza, Asadollahi, Jessica, Becker, Tatjana, Bierhals, Kathleen E, Brown, Ange-Line, Bruel, Theresa, Brunet, Maryline, Carneiro, Kirsten, Cremer, Robert, Day, Anne-Sophie, Denommé-Pichon, Dave A, Dyment, Hartmut, Engels, Rachel, Fisher, Elaine S, Goh, M J, Hajianpour, Lucia Ribeiro Machado, Haertel, Nadine, Hauer, Maja, Hempel, Theresia, Herget, Jessika, Johannsen, Cornelia, Kraus, Gwenaël, Le Guyader, Gaetan, Lesca, Frédéric Tran, Mau-Them, John Henry, McDermott, Kirsty, McWalter, Pierre, Meyer, Katrin, Õunap, Bernt, Popp, Tiia, Reimand, Korbinian M, Riedhammer, Martina, Russo, Lynette G, Sadleir, Margarita, Saenz, Manuel, Schiff, Elisabeth, Schuler, Steffen, Syrbe, Amelie Theresa, Van der Ven, Alain, Verloes, Marjolaine, Willems, Christiane, Zweier, Katharina, Steindl, Markus, Zweier and Anita, Rauch (2020) New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine. ISSN 1098-3600 (doi:10.1038/s41436-020-01011-x)