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@ARTICLE{Paul:1007150,
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 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 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},
othercontributors = {Acosta, Maria T. and Adam, Margaret and Adams, David R. and
Alvarez, Raquel L. and Alvey, Justin and Amendola, Laura and
Andrews, Ashley and Ashley, Euan A. and Bacino, Carlos A.
and Bademci, Guney and Balasubramanyam, Ashok and Baldridge,
Dustin and Bale, Jim and Bamshad, Michael and Barbouth,
Deborah and Bayrak-Toydemir, Pinar and Beck, Anita and
Beggs, Alan H. and Behrens, Edward and Bejerano, Gill and
Bellen, Hugo J. and Bennett, Jimmy and Berg-Rood, Beverly
and Bernstein, Jonathan A. and Berry, Gerard T. and Bican,
Anna and Bivona, Stephanie and Blue, Elizabeth and Bohnsack,
John and Bonner, Devon and Botto, Lorenzo and Boyd, Brenna
and Briere, Lauren C. and Brown, Gabrielle and Burke,
Elizabeth A. and Burrage, Lindsay C. and Butte, Manish J.
and Byers, Peter and Byrd, William E. and Carey, John and
Carrasquillo, Olveen and Cassini, Thomas and Chang, Ta Chen
Peter and Chanprasert, Sirisak and Chao, Hsiao-Tuan and
Chinn, Ivan and Clark, Gary D. and Coakley, Terra R. and
Cobban, Laurel A. and Cogan, Joy D. and Coggins, Matthew and
Cole, F. Sessions and Colley, Heather A. and Cope, Heidi and
Corona, Rosario and Craigen, William J. and Crouse, Andrew
B. and Cunningham, Michael and D'Souza, Precilla and Dai,
Hongzheng and Dasari, Surendra and Davis, Joie and Dayal,
Jyoti G. and Dell'Angelica, Esteban C. and Dipple, Katrina
and Doherty, Daniel and Dorrani, Naghmeh and Doss, Argenia
L. and Douine, Emilie D. and Earl, Dawn and Eckstein, David
J. and Emrick, Lisa T. and Eng, Christine M. and Falk, Marni
and Fieg, Elizabeth L. and Fisher, Paul G. and Fogel, Brent
L. and Forghani, Irman and Gahl, William A. and Glass, Ian
and Gochuico, Bernadette and Goddard, Page C. and Godfrey,
Rena A. and Golden-Grant, Katie and Grajewski, Alana and
Hadley, Don and Hahn, Sihoun and Halley, Meghan C. and
Hamid, Rizwan and Hassey, Kelly and Hayes, Nichole and High,
Frances and Hing, Anne and Hisama, Fuki M. and Holm, Ingrid
A. and Hom, Jason and Horike-Pyne, Martha and Huang, Alden
and Hutchison, Sarah and Introne, Wendy and Isasi, Rosario
and Izumi, Kosuke and Jamal, Fariha and Jarvik, Gail P. and
Jarvik, Jeffrey and Jayadev, Suman and Jean-Marie, Orpa and
Jobanputra, Vaidehi and Karaviti, Lefkothea and Ketkar,
Shamika and Kiley, Dana and Kilich, Gonench and Kobren,
Shilpa N. and Kohane, Isaac S. and Kohler, Jennefer N. and
Korrick, Susan and Kozuira, Mary and Krakow, Deborah and
Krasnewich, Donna M. and Kravets, Elijah and Lalani, Seema
R. and Lam, Byron and Lam, Christina and Lanpher, Brendan C.
and Lanza, Ian R. and LeBlanc, Kimberly and Lee, Brendan H.
and Levitt, Roy and Lewis, Richard A. and Liu, Pengfei and
Liu, Xue Zhong and Longo, Nicola and Loo, Sandra K. and
Loscalzo, Joseph and Maas, Richard L. and Macnamara, Ellen
F. and MacRae, Calum A. and Maduro, Valerie V. and Maghiro,
Audrey Stephannie and Mahoney, Rachel and Malicdan, May
Christine V. and Mamounas, Laura A. and Manolio, Teri A. and
Mao, Rong and Maravilla, Kenneth and Marom, Ronit and Marth,
Gabor and Martin, Beth A. and Martin, Martin G. and
Martínez-Agosto, Julian A. and Marwaha, Shruti and
McCauley, Jacob and McConkie-Rosell, Allyn and McCray, Alexa
T. and McGee, Elisabeth and Mefford, Heather and Merritt, J.
Lawrence and Might, Matthew and Mirzaa, Ghayda and Morava,
Eva and Moretti, Paolo and Mulvihill, John and Nakano-Okuno,
Mariko and Nelson, Stanley F. and Newman, John H. and
Nicholas, Sarah K. and Nickerson, Deborah and
Nieves-Rodriguez, Shirley and Novacic, Donna and Oglesbee,
Devin and Orengo, James P. and Pace, Laura and Pak, Stephen
and Pallais, J. Carl and Palmer, Christina G. S. and Papp,
Jeanette C. and Parker, Neil H. and Phillips Iii, John A.
and Posey, Jennifer E. and Potocki, Lorraine and Pusey
Swerdzewski, Barbara N. and Quinlan, Aaron and Rao, Deepak
A. and Raper, Anna and Raskind, Wendy and Renteria, Genecee
and Reuter, Chloe M. and Rives, Lynette and Robertson, Amy
K. and Rodan, Lance H. and Rosenfeld, Jill A. and
Rosenwasser, Natalie and Rossignol, Francis and Ruzhnikov,
Maura and Sacco, Ralph and Sampson, Jacinda B. and Saporta,
Mario and Schaechter, Judy and Schedl, Timothy and Schoch,
Kelly and Scott, Daryl A. and Scott, C. Ron and Seto, Elaine
and Shashi, Vandana and Shin, Jimann and Silverman, Edwin K.
and Sinsheimer, Janet S. and Sisco, Kathy and Smith, Edward
C. and Smith, Kevin S. and Solnica-Krezel, Lilianna and
Solomon, Ben and Spillmann, Rebecca C. and Stoler, Joan M.
and Sullivan, Kathleen and Sullivan, Jennifer A. and Sun,
Angela and Sutton, Shirley and Sweetser, David A. and
Sybert, Virginia and Tabor, Holly K. and Tan, Queenie K.-G.
and Tan, Amelia L. M. and Tarakad, Arjun and Tekin, Mustafa
and Telischi, Fred and Thorson, Willa and Tifft, Cynthia J.
and Toro, Camilo and Tran, Alyssa A. and Ungar, Rachel A.
and Urv, Tiina K. and Vanderver, Adeline and Velinder, Matt
and Viskochil, Dave and Vogel, Tiphanie P. and Wahl, Colleen
E. and Walker, Melissa and Wallace, Stephanie and Walley,
Nicole M. and Wambach, Jennifer and Wan, Jijun and Wang,
Lee-Kai and Wangler, Michael F. and Ward, Patricia A. and
Wegner, Daniel and Weisz Hubshman, Monika and Wener, Mark
and Wenger, Tara and Westerfield, Monte and Wheeler, Matthew
T. and Whitlock, Jordan and Wolfe, Lynne A. and Worley, Kim
and Xiao, Changrui and Yamamoto, Shinya and Yang, John and
Zhang, Zhe and Zuchner, Stephan},
title = {{A} syndromic neurodevelopmental disorder caused by rare
variants in {PPFIA}3},
journal = {The American journal of human genetics},
volume = {111},
number = {1},
issn = {1537-6605},
address = {New York, NY [u.a.]},
publisher = {Cell Press},
reportid = {RWTH-CONV-253504},
pages = {96-118},
year = {2024},
cin = {525000-2 / 941120 / 535000-2},
cid = {$I:(DE-82)525000-2_20140620$ / $I:(DE-82)941120_20230322$ /
$I:(DE-82)535000-2_20140620$},
typ = {PUB:(DE-HGF)16},
UT = {WOS:001154201800001},
pubmed = {pmid:38181735},
doi = {10.1016/j.ajhg.2023.12.004},
url = {https://publications.rwth-aachen.de/record/1007150},
}
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