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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 4
2022
Holtz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Sacoto, Maria J. Guillen; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, Andr Prime E.; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O'Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Del Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb und Raby, Benjamin A.
(2022):
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2065-2078
2021
Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; Ridder, Willem de; Winter, Jonathan de; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; Warrenburg, Bart P. van de; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M.; Lewis, Richard A.; Millan, Francisca; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schols, Ludger; Nuernberg, Peter; Nürnberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark und Senderek, Jan
(2021):
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
In: Brain, Bd. 144: S. 1422-1434
Schalk, Audrey; Cousin, Margot A.; Dsouza, Nikita R.; Challman, Thomas D.; Wain, Karen E.; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien 
ORCID: https://orcid.org/0000-0002-3457-5684; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna ORCID: https://orcid.org/0000-0001-7314-5962; Gabau, Elizabeth; Stolerman, Elliot ORCID: https://orcid.org/0000-0001-9536-4621; Washington, Camerun; Louie, Ray; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, Micheil; Kooy, Frank ORCID: https://orcid.org/0000-0003-2024-0485; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois ORCID: https://orcid.org/0000-0002-9110-1856; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J; Zweier, Christiane; Reis, André ORCID: https://orcid.org/0000-0002-6301-6363; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine ORCID: https://orcid.org/0000-0002-0242-4566; Mignot, Cyril; Gassen, Koen van; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H.; Rudy, Natasha L.; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Tran Mau-them, Frederic ORCID: https://orcid.org/0000-0002-3795-9456; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T.; Klee, Eric W. ORCID: https://orcid.org/0000-0003-2946-5795; Piton, Amelie ORCID: https://orcid.org/0000-0003-0408-7468 und Gerard, Benedicte
(2021):
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 965-975
ORCID: https://orcid.org/0000-0002-3457-5684; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna ORCID: https://orcid.org/0000-0001-7314-5962; Gabau, Elizabeth; Stolerman, Elliot ORCID: https://orcid.org/0000-0001-9536-4621; Washington, Camerun; Louie, Ray; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, Micheil; Kooy, Frank ORCID: https://orcid.org/0000-0003-2024-0485; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois ORCID: https://orcid.org/0000-0002-9110-1856; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J; Zweier, Christiane; Reis, André ORCID: https://orcid.org/0000-0002-6301-6363; Wagner, Matias ORCID: https://orcid.org/0000-0002-4454-8823; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine ORCID: https://orcid.org/0000-0002-0242-4566; Mignot, Cyril; Gassen, Koen van; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H.; Rudy, Natasha L.; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Tran Mau-them, Frederic ORCID: https://orcid.org/0000-0002-3795-9456; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T.; Klee, Eric W. ORCID: https://orcid.org/0000-0003-2946-5795; Piton, Amelie ORCID: https://orcid.org/0000-0003-0408-7468 und Gerard, Benedicte
(2021):
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 965-975
2020
Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N.; Clark, Karl J.; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B.; Green, Sarah; van Gassen, Koen; Brandt, Tracy; Schnur, Rhonda E.; Millan, Francisca; Si, Yue; Mall, Volker; Winkelmann, Juliane; Gavrilova, Ralitza H.; Klee, Eric W.; Engleman, Kendra; Safina, Nicole P.; Slaugh, Rachel; Bryant, Emily M.; Tan, Wen-Hann; Granadillo, Jorge; Misra, Sunita N.; Schaefer, G. Bradley; Towner, Shelley; Brilstra, Eva H. und Koeleman, Bobby P. C.
(2020):
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
In: Genetics in Medicine, Bd. 22, Nr. 8: S. 1413-1417
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