adrenal insufficiency

Boonsawat, Paranchai, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: 0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2024.07.016)

C5orf42

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)

ciliopathies

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)

congenital heart defects

Boonsawat, Paranchai, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: 0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2024.07.016)

dominant negative

Boonsawat, Paranchai, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: 0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2024.07.016)

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)

haploinsufficiency

Boonsawat, Paranchai, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: 0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2024.07.016)

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)

intellectual disability

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)

KIF7

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)

macrocephaly

Boonsawat, Paranchai, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: 0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2024.07.016)

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: 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)

MED13L

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)

microcephaly

Boonsawat, Paranchai, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: 0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2024.07.016)

mirror phenotype

Boonsawat, Paranchai, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: 0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2024.07.016)

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: 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)

patch clamp

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)

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: 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)

SCN2A variants

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)

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: 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)

SHH

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)

tumor suppressor gene

Boonsawat, Paranchai, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: 0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2024.07.016)

Wnt signaling

Boonsawat, Paranchai, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: 0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2024.07.016)

ZNRF3

Boonsawat, Paranchai, Asadollahi, Reza ORCID: 0000-0002-1497-0564 , Niedrist, Dunja, Steindl, Katharina, Begemann, Anaïs, Joset, Pascal, Bhoj, Elizabeth J., Li, Dong, Zackai, Elaine, Vetro, Annalisa, Barba, Carmen, Guerrini, Renzo, Whalen, Sandra, Keren, Boris, Khan, Amjad, Jing, Duan, Palomares Bralo, María, Rikeros Orozco, Emi, Hao, Qin, Schlott Kristiansen, Britta, Zheng, Bixia, Donnelly, Deirdre, Clowes, Virginia, Zweier, Markus, Papik, Michael, Siegel, Gabriele, Sabatino, Valeria, Mocera, Martina, Horn, Anselm H.C., Sticht, Heinrich and Rauch, Anita ORCID: 0000-0003-2930-3163 (2024) Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling. American Journal of Human Genetics. ISSN 0002-9297 (Print), 1537-6605 (Online) (doi:https://doi.org/10.1016/j.ajhg.2024.07.016)