@article{UBHD-68762899,
  author={Hoed, Joery den and de Boer, Elke and Voisin, Norine and Dingemans, Alexander J. M. and Guex, Nicolas and Wiel, Laurens and Nellaker, Christoffer and Amudhavalli, Shivarajan M. and Banka, Siddharth and Bena, Frederique S. and Ben-Zeev, Bruria and Bonagura, Vincent R. and Bruel, Ange-Line and Brunet, Theresa and Brunner, Han G. and Chew, Hui B. and Chrast, Jacqueline and Cimbalistienė, Loreta and Coon, Hilary and Délot, Emmanuèlle C. and Démurger, Florence and Denommé-Pichon, Anne-Sophie and Depienne, Christel and Donnai, Dian and Dyment, David A. and Elpeleg, Orly and Faivre, Laurence and Gilissen, Christian and Granger, Leslie and Haber, Benjamin and Hachiya, Yasuo and Abedi, Yasmin Hamzavi and Hanebeck, Jennifer and Hehir-Kwa, Jayne Y. and Horist, Brooke and Itai, Toshiyuki and Kotzaeridou, Urania and Orec, Laura},
  title={Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction},
  year={2021},
  pages={346-356},
  language={eng},
  issn={1537-6605},
  volume={108},
  number={2 vom: Feb.},
  note={Gesehen am 24.07.2021},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2021.01.007},
}
@article{UBHD-69040775,
  author={Holtz, Alexander M. and VanCoillie, Rachel and Vansickle, Elizabeth A. and Carere, Deanna Alexis and Withrow, Kara and Torti, Erin and Juusola, Jane and Millan, Francisca and Person, Richard and Guillen Sacoto, Maria J. and Si, Yue and Wentzensen, Ingrid M. and Pugh, Jada and Vasileiou, Georgia and Rieger, Melissa and Reis, André and Argilli, Emanuela and Sherr, Elliott H. and Aldinger, Kimberly A. and Dobyns, William B. and Brunet, Theresa and Hoefele, Julia and Wagner, Matias and Haber, Benjamin and Kotzaeridou, Urania and Keren, Boris and Heron, Delphine and Mignot, Cyril and Heide, Solveig and Courtin, Thomas and Buratti, Julien and Murugasen, Serini and Donald, Kirsten A. and O’Heir, Emily and Moody, Shade and Kim, Katherine H. and Burton, Barbara K. and Yoon, Grace and Campo, Miguel del and Masser-Frye, Diane and Kozenko, Mariya and Parkinson, Christina and Sell, Susan L. and Gordon, Patricia L. and Prokop, Jeremy W. and Karaa, Amel and Bupp, Caleb and Raby, Benjamin A.},
  title={Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling},
  year={2022},
  pages={2065-2078},
  language={eng},
  issn={1530-0366},
  volume={24},
  number={10 vom: Okt.},
  note={Gesehen am 13.02.2023},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2022.07.005},
}