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@ARTICLE{Paul:1007385,
      author       = {Paul, Maimuna S. and Michener, Sydney L. and Pan, Hongling
                      and Chan, Hiuling and Pfliger, Jessica M. and Rosenfeld,
                      Jill A. and Lerma, Vanesa C. and Tran, Alyssa and Longley,
                      Megan A. and Lewis, Richard A. and Weisz-Hubshman, Monika
                      and Bekheirnia, Mir Reza and Bekheirnia, Nasim and
                      Massingham, Lauren and Zech, Michael and Wagner, Matias and
                      Engels, Hartmut and Cremer, Kirsten and Mangold, Elisabeth
                      and Peters, Sophia and Trautmann, Jessica and Perne, Claudia
                      and Mester, Jessica L. and Guillen Sacoto, Maria J. and
                      Person, Richard and McDonnell, Pamela P. and Cohen, Stacey
                      R. and Lusk, Laina and Cohen, Ana S. A. and Le Pichon,
                      Jean-Baptiste and Pastinen, Tomi and Zhou, Dihong and
                      Engleman, Kendra and Racine, Caroline and Faivre, Laurence
                      and Moutton, Sébastien and Denommé-Pichon, Anne-Sophie and
                      Koh, Hyun Yong and Poduri, Annapurna and Bolton, Jeffrey and
                      Knopp, Cordula and Julia Suh, Dong Sun and Maier, Andrea and
                      Toosi, Mehran Beiraghi and Karimiani, Ehsan Ghayoor and
                      Maroofian, Reza and Schaefer, Gerald Bradley and
                      Ramakumaran, Vijayalakshmi and Vasudevan, Pradeep and
                      Banos-Pinero, Benito and Pagnamenta, Alistair T. and Prasad,
                      Chitra and Osmond, Matthew and Schuhmann, Sarah and
                      Vasileiou, Georgia and Russ-Hall, Sophie and Scheffer,
                      Ingrid E. and Carvill, Gemma L. and Mefford, Heather and
                      Bacino, Carlos A. and Lee, Brendan H. and Chao, Hsiao-Tuan},
      collaboration = {Undiagnosed Diseases Network},
      title        = {{A} syndromic neurodevelopmental disorder caused by rare
                      variants in {PPFIA}3},
      journal      = {The American journal of human genetics},
      volume       = {111},
      number       = {4},
      issn         = {1537-6605},
      address      = {New York, NY [u.a.]},
      publisher    = {Cell Press},
      reportid     = {RWTH-CONV-253760},
      pages        = {805-805},
      year         = {2024},
      cin          = {525000-2 / 941120},
      cid          = {$I:(DE-82)525000-2_20140620$ / $I:(DE-82)941120_20230322$},
      typ          = {PUB:(DE-HGF)1 / PUB:(DE-HGF)16},
      UT           = {WOS:001226599000001},
      pubmed       = {pmid:38508193},
      doi          = {10.1016/j.ajhg.2024.03.009},
      url          = {https://publications.rwth-aachen.de/record/1007385},
}