001 | 1007150 | ||
005 | 20250513050441.0 | ||
024 | 7 | _ | |2 HSB |a eva565062 |
024 | 7 | _ | |2 ISSN |a 0002-9297 |
024 | 7 | _ | |2 ISSN |a 1537-6605 |
024 | 7 | _ | |2 SCOPUS |a SCOPUS:2-s2.0-85181848634 |
024 | 7 | _ | |2 WOS |a WOS:001154201800001 |
024 | 7 | _ | |2 doi |a 10.1016/j.ajhg.2023.12.004 |
024 | 7 | _ | |2 pmid |a pmid:38181735 |
037 | _ | _ | |a RWTH-CONV-253504 |
041 | _ | _ | |a English |
100 | 1 | _ | |a Paul, Maimuna S. |b 0 |
245 | _ | _ | |a A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 |h online, print |
260 | _ | _ | |a New York, NY [u.a.] |b Cell Press |c 2024 |
336 | 7 | _ | |0 0 |2 EndNote |a Journal Article |
336 | 7 | _ | |0 PUB:(DE-HGF)16 |2 PUB:(DE-HGF) |a Journal Article |b journal |m journal |
336 | 7 | _ | |2 BibTeX |a ARTICLE |
336 | 7 | _ | |2 DRIVER |a article |
336 | 7 | _ | |2 DataCite |a Output Types/Journal article |
336 | 7 | _ | |2 ORCID |a JOURNAL_ARTICLE |
591 | _ | _ | |a Australia |
591 | _ | _ | |a Canada |
591 | _ | _ | |a France |
591 | _ | _ | |a Germany |
591 | _ | _ | |a Iran |
591 | _ | _ | |a UK |
591 | _ | _ | |a USA |
700 | 1 | _ | |a Michener, Sydney L. |b 1 |
700 | 1 | _ | |a Pan, Hongling |b 2 |
700 | 1 | _ | |a Chan, Hiuling |b 3 |
700 | 1 | _ | |a Pfliger, Jessica M. |b 4 |
700 | 1 | _ | |a Rosenfeld, Jill A. |b 5 |
700 | 1 | _ | |a Lerma, Vanesa C. |b 6 |
700 | 1 | _ | |a Tran, Alyssa |b 7 |
700 | 1 | _ | |a Longley, Megan A. |b 8 |
700 | 1 | _ | |a Lewis, Richard A. |b 9 |
700 | 1 | _ | |a Weisz-Hubshman, Monika |b 10 |
700 | 1 | _ | |a Bekheirnia, Mir Reza |b 11 |
700 | 1 | _ | |a Bekheirnia, Nasim |b 12 |
700 | 1 | _ | |a Massingham, Lauren |b 13 |
700 | 1 | _ | |a Zech, Michael |b 14 |
700 | 1 | _ | |a Wagner, Matias |b 15 |
700 | 1 | _ | |a Engels, Hartmut |b 16 |
700 | 1 | _ | |a Cremer, Kirsten |b 17 |
700 | 1 | _ | |a Mangold, Elisabeth |b 18 |
700 | 1 | _ | |a Peters, Sophia |b 19 |
700 | 1 | _ | |a Trautmann, Jessica |b 20 |
700 | 1 | _ | |a Mester, Jessica L. |b 21 |
700 | 1 | _ | |a Guillen Sacoto, Maria J. |b 22 |
700 | 1 | _ | |a Person, Richard |b 23 |
700 | 1 | _ | |a McDonnell, Pamela P. |b 24 |
700 | 1 | _ | |a Cohen, Stacey R. |b 25 |
700 | 1 | _ | |a Lusk, Laina |b 26 |
700 | 1 | _ | |a Cohen, Ana S. A. |b 27 |
700 | 1 | _ | |a Le Pichon, Jean-Baptiste |b 28 |
700 | 1 | _ | |a Pastinen, Tomi |b 29 |
700 | 1 | _ | |a Zhou, Dihong |b 30 |
700 | 1 | _ | |a Engleman, Kendra |b 31 |
700 | 1 | _ | |a Racine, Caroline |b 32 |
700 | 1 | _ | |a Faivre, Laurence |b 33 |
700 | 1 | _ | |a Moutton, Sébastien |b 34 |
700 | 1 | _ | |a Denommé-Pichon, Anne-Sophie |b 35 |
700 | 1 | _ | |a Koh, Hyun Yong |b 36 |
700 | 1 | _ | |a Poduri, Annapurna |b 37 |
700 | 1 | _ | |a Bolton, Jeffrey |b 38 |
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700 | 1 | _ | |a Maroofian, Reza |b 44 |
700 | 1 | _ | |a Schaefer, Gerald Bradley |b 45 |
700 | 1 | _ | |a Ramakumaran, Vijayalakshmi |b 46 |
700 | 1 | _ | |a Vasudevan, Pradeep |b 47 |
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700 | 1 | _ | |a Osmond, Matthew |b 49 |
700 | 1 | _ | |a Schuhmann, Sarah |b 50 |
700 | 1 | _ | |a Vasileiou, Georgia |b 51 |
700 | 1 | _ | |a Russ-Hall, Sophie |b 52 |
700 | 1 | _ | |a Scheffer, Ingrid E. |b 53 |
700 | 1 | _ | |a Carvill, Gemma L. |b 54 |
700 | 1 | _ | |a Mefford, Heather |b 55 |
700 | 1 | _ | |a Undiagnosed Diseases Network |b 56 |e Collaboration author |
700 | 1 | _ | |a Bacino, Carlos A. |b 57 |
700 | 1 | _ | |a Lee, Brendan H. |b 58 |
700 | 1 | _ | |a Chao, Hsiao-Tuan |b 59 |e Corresponding author |
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700 | 1 | _ | |a Adam, Margaret |b 61 |e Contributor |
700 | 1 | _ | |a Adams, David R. |b 62 |e Contributor |
700 | 1 | _ | |a Alvarez, Raquel L. |b 63 |e Contributor |
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700 | 1 | _ | |a Bacino, Carlos A. |b 68 |e Contributor |
700 | 1 | _ | |a Bademci, Guney |b 69 |e Contributor |
700 | 1 | _ | |a Balasubramanyam, Ashok |b 70 |e Contributor |
700 | 1 | _ | |a Baldridge, Dustin |b 71 |e Contributor |
700 | 1 | _ | |a Bale, Jim |b 72 |e Contributor |
700 | 1 | _ | |a Bamshad, Michael |b 73 |e Contributor |
700 | 1 | _ | |a Barbouth, Deborah |b 74 |e Contributor |
700 | 1 | _ | |a Bayrak-Toydemir, Pinar |b 75 |e Contributor |
700 | 1 | _ | |a Beck, Anita |b 76 |e Contributor |
700 | 1 | _ | |a Beggs, Alan H. |b 77 |e Contributor |
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700 | 1 | _ | |a Bennett, Jimmy |b 81 |e Contributor |
700 | 1 | _ | |a Berg-Rood, Beverly |b 82 |e Contributor |
700 | 1 | _ | |a Bernstein, Jonathan A. |b 83 |e Contributor |
700 | 1 | _ | |a Berry, Gerard T. |b 84 |e Contributor |
700 | 1 | _ | |a Bican, Anna |b 85 |e Contributor |
700 | 1 | _ | |a Bivona, Stephanie |b 86 |e Contributor |
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700 | 1 | _ | |a Bohnsack, John |b 88 |e Contributor |
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700 | 1 | _ | |a Botto, Lorenzo |b 90 |e Contributor |
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700 | 1 | _ | |a Briere, Lauren C. |b 92 |e Contributor |
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700 | 1 | _ | |a Byrd, William E. |b 98 |e Contributor |
700 | 1 | _ | |a Carey, John |b 99 |e Contributor |
700 | 1 | _ | |a Carrasquillo, Olveen |b 100 |e Contributor |
700 | 1 | _ | |a Cassini, Thomas |b 101 |e Contributor |
700 | 1 | _ | |a Chang, Ta Chen Peter |b 102 |e Contributor |
700 | 1 | _ | |a Chanprasert, Sirisak |b 103 |e Contributor |
700 | 1 | _ | |a Chao, Hsiao-Tuan |b 104 |e Contributor |
700 | 1 | _ | |a Chinn, Ivan |b 105 |e Contributor |
700 | 1 | _ | |a Clark, Gary D. |b 106 |e Contributor |
700 | 1 | _ | |a Coakley, Terra R. |b 107 |e Contributor |
700 | 1 | _ | |a Cobban, Laurel A. |b 108 |e Contributor |
700 | 1 | _ | |a Cogan, Joy D. |b 109 |e Contributor |
700 | 1 | _ | |a Coggins, Matthew |b 110 |e Contributor |
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700 | 1 | _ | |a Cope, Heidi |b 113 |e Contributor |
700 | 1 | _ | |a Corona, Rosario |b 114 |e Contributor |
700 | 1 | _ | |a Craigen, William J. |b 115 |e Contributor |
700 | 1 | _ | |a Crouse, Andrew B. |b 116 |e Contributor |
700 | 1 | _ | |a Cunningham, Michael |b 117 |e Contributor |
700 | 1 | _ | |a D'Souza, Precilla |b 118 |e Contributor |
700 | 1 | _ | |a Dai, Hongzheng |b 119 |e Contributor |
700 | 1 | _ | |a Dasari, Surendra |b 120 |e Contributor |
700 | 1 | _ | |a Davis, Joie |b 121 |e Contributor |
700 | 1 | _ | |a Dayal, Jyoti G. |b 122 |e Contributor |
700 | 1 | _ | |a Dell'Angelica, Esteban C. |b 123 |e Contributor |
700 | 1 | _ | |a Dipple, Katrina |b 124 |e Contributor |
700 | 1 | _ | |a Doherty, Daniel |b 125 |e Contributor |
700 | 1 | _ | |a Dorrani, Naghmeh |b 126 |e Contributor |
700 | 1 | _ | |a Doss, Argenia L. |b 127 |e Contributor |
700 | 1 | _ | |a Douine, Emilie D. |b 128 |e Contributor |
700 | 1 | _ | |a Earl, Dawn |b 129 |e Contributor |
700 | 1 | _ | |a Eckstein, David J. |b 130 |e Contributor |
700 | 1 | _ | |a Emrick, Lisa T. |b 131 |e Contributor |
700 | 1 | _ | |a Eng, Christine M. |b 132 |e Contributor |
700 | 1 | _ | |a Falk, Marni |b 133 |e Contributor |
700 | 1 | _ | |a Fieg, Elizabeth L. |b 134 |e Contributor |
700 | 1 | _ | |a Fisher, Paul G. |b 135 |e Contributor |
700 | 1 | _ | |a Fogel, Brent L. |b 136 |e Contributor |
700 | 1 | _ | |a Forghani, Irman |b 137 |e Contributor |
700 | 1 | _ | |a Gahl, William A. |b 138 |e Contributor |
700 | 1 | _ | |a Glass, Ian |b 139 |e Contributor |
700 | 1 | _ | |a Gochuico, Bernadette |b 140 |e Contributor |
700 | 1 | _ | |a Goddard, Page C. |b 141 |e Contributor |
700 | 1 | _ | |a Godfrey, Rena A. |b 142 |e Contributor |
700 | 1 | _ | |a Golden-Grant, Katie |b 143 |e Contributor |
700 | 1 | _ | |a Grajewski, Alana |b 144 |e Contributor |
700 | 1 | _ | |a Hadley, Don |b 145 |e Contributor |
700 | 1 | _ | |a Hahn, Sihoun |b 146 |e Contributor |
700 | 1 | _ | |a Halley, Meghan C. |b 147 |e Contributor |
700 | 1 | _ | |a Hamid, Rizwan |b 148 |e Contributor |
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700 | 1 | _ | |a Hing, Anne |b 152 |e Contributor |
700 | 1 | _ | |a Hisama, Fuki M. |b 153 |e Contributor |
700 | 1 | _ | |a Holm, Ingrid A. |b 154 |e Contributor |
700 | 1 | _ | |a Hom, Jason |b 155 |e Contributor |
700 | 1 | _ | |a Horike-Pyne, Martha |b 156 |e Contributor |
700 | 1 | _ | |a Huang, Alden |b 157 |e Contributor |
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700 | 1 | _ | |a Izumi, Kosuke |b 161 |e Contributor |
700 | 1 | _ | |a Jamal, Fariha |b 162 |e Contributor |
700 | 1 | _ | |a Jarvik, Gail P. |b 163 |e Contributor |
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700 | 1 | _ | |a Jayadev, Suman |b 165 |e Contributor |
700 | 1 | _ | |a Jean-Marie, Orpa |b 166 |e Contributor |
700 | 1 | _ | |a Jobanputra, Vaidehi |b 167 |e Contributor |
700 | 1 | _ | |a Karaviti, Lefkothea |b 168 |e Contributor |
700 | 1 | _ | |a Ketkar, Shamika |b 169 |e Contributor |
700 | 1 | _ | |a Kiley, Dana |b 170 |e Contributor |
700 | 1 | _ | |a Kilich, Gonench |b 171 |e Contributor |
700 | 1 | _ | |a Kobren, Shilpa N. |b 172 |e Contributor |
700 | 1 | _ | |a Kohane, Isaac S. |b 173 |e Contributor |
700 | 1 | _ | |a Kohler, Jennefer N. |b 174 |e Contributor |
700 | 1 | _ | |a Korrick, Susan |b 175 |e Contributor |
700 | 1 | _ | |a Kozuira, Mary |b 176 |e Contributor |
700 | 1 | _ | |a Krakow, Deborah |b 177 |e Contributor |
700 | 1 | _ | |a Krasnewich, Donna M. |b 178 |e Contributor |
700 | 1 | _ | |a Kravets, Elijah |b 179 |e Contributor |
700 | 1 | _ | |a Lalani, Seema R. |b 180 |e Contributor |
700 | 1 | _ | |a Lam, Byron |b 181 |e Contributor |
700 | 1 | _ | |a Lam, Christina |b 182 |e Contributor |
700 | 1 | _ | |a Lanpher, Brendan C. |b 183 |e Contributor |
700 | 1 | _ | |a Lanza, Ian R. |b 184 |e Contributor |
700 | 1 | _ | |a LeBlanc, Kimberly |b 185 |e Contributor |
700 | 1 | _ | |a Lee, Brendan H. |b 186 |e Contributor |
700 | 1 | _ | |a Levitt, Roy |b 187 |e Contributor |
700 | 1 | _ | |a Lewis, Richard A. |b 188 |e Contributor |
700 | 1 | _ | |a Liu, Pengfei |b 189 |e Contributor |
700 | 1 | _ | |a Liu, Xue Zhong |b 190 |e Contributor |
700 | 1 | _ | |a Longo, Nicola |b 191 |e Contributor |
700 | 1 | _ | |a Loo, Sandra K. |b 192 |e Contributor |
700 | 1 | _ | |a Loscalzo, Joseph |b 193 |e Contributor |
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700 | 1 | _ | |a Macnamara, Ellen F. |b 195 |e Contributor |
700 | 1 | _ | |a MacRae, Calum A. |b 196 |e Contributor |
700 | 1 | _ | |a Maduro, Valerie V. |b 197 |e Contributor |
700 | 1 | _ | |a Maghiro, Audrey Stephannie |b 198 |e Contributor |
700 | 1 | _ | |a Mahoney, Rachel |b 199 |e Contributor |
700 | 1 | _ | |a Malicdan, May Christine V. |b 200 |e Contributor |
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700 | 1 | _ | |a Manolio, Teri A. |b 202 |e Contributor |
700 | 1 | _ | |a Mao, Rong |b 203 |e Contributor |
700 | 1 | _ | |a Maravilla, Kenneth |b 204 |e Contributor |
700 | 1 | _ | |a Marom, Ronit |b 205 |e Contributor |
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700 | 1 | _ | |a Martin, Martin G. |b 208 |e Contributor |
700 | 1 | _ | |a Martínez-Agosto, Julian A. |b 209 |e Contributor |
700 | 1 | _ | |a Marwaha, Shruti |b 210 |e Contributor |
700 | 1 | _ | |a McCauley, Jacob |b 211 |e Contributor |
700 | 1 | _ | |a McConkie-Rosell, Allyn |b 212 |e Contributor |
700 | 1 | _ | |a McCray, Alexa T. |b 213 |e Contributor |
700 | 1 | _ | |a McGee, Elisabeth |b 214 |e Contributor |
700 | 1 | _ | |a Mefford, Heather |b 215 |e Contributor |
700 | 1 | _ | |a Merritt, J. Lawrence |b 216 |e Contributor |
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700 | 1 | _ | |a Mirzaa, Ghayda |b 218 |e Contributor |
700 | 1 | _ | |a Morava, Eva |b 219 |e Contributor |
700 | 1 | _ | |a Moretti, Paolo |b 220 |e Contributor |
700 | 1 | _ | |a Mulvihill, John |b 221 |e Contributor |
700 | 1 | _ | |a Nakano-Okuno, Mariko |b 222 |e Contributor |
700 | 1 | _ | |a Nelson, Stanley F. |b 223 |e Contributor |
700 | 1 | _ | |a Newman, John H. |b 224 |e Contributor |
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700 | 1 | _ | |a Nickerson, Deborah |b 226 |e Contributor |
700 | 1 | _ | |a Nieves-Rodriguez, Shirley |b 227 |e Contributor |
700 | 1 | _ | |a Novacic, Donna |b 228 |e Contributor |
700 | 1 | _ | |a Oglesbee, Devin |b 229 |e Contributor |
700 | 1 | _ | |a Orengo, James P. |b 230 |e Contributor |
700 | 1 | _ | |a Pace, Laura |b 231 |e Contributor |
700 | 1 | _ | |a Pak, Stephen |b 232 |e Contributor |
700 | 1 | _ | |a Pallais, J. Carl |b 233 |e Contributor |
700 | 1 | _ | |a Palmer, Christina G. S. |b 234 |e Contributor |
700 | 1 | _ | |a Papp, Jeanette C. |b 235 |e Contributor |
700 | 1 | _ | |a Parker, Neil H. |b 236 |e Contributor |
700 | 1 | _ | |a Phillips Iii, John A. |b 237 |e Contributor |
700 | 1 | _ | |a Posey, Jennifer E. |b 238 |e Contributor |
700 | 1 | _ | |a Potocki, Lorraine |b 239 |e Contributor |
700 | 1 | _ | |a Pusey Swerdzewski, Barbara N. |b 240 |e Contributor |
700 | 1 | _ | |a Quinlan, Aaron |b 241 |e Contributor |
700 | 1 | _ | |a Rao, Deepak A. |b 242 |e Contributor |
700 | 1 | _ | |a Raper, Anna |b 243 |e Contributor |
700 | 1 | _ | |a Raskind, Wendy |b 244 |e Contributor |
700 | 1 | _ | |a Renteria, Genecee |b 245 |e Contributor |
700 | 1 | _ | |a Reuter, Chloe M. |b 246 |e Contributor |
700 | 1 | _ | |a Rives, Lynette |b 247 |e Contributor |
700 | 1 | _ | |a Robertson, Amy K. |b 248 |e Contributor |
700 | 1 | _ | |a Rodan, Lance H. |b 249 |e Contributor |
700 | 1 | _ | |a Rosenfeld, Jill A. |b 250 |e Contributor |
700 | 1 | _ | |a Rosenwasser, Natalie |b 251 |e Contributor |
700 | 1 | _ | |a Rossignol, Francis |b 252 |e Contributor |
700 | 1 | _ | |a Ruzhnikov, Maura |b 253 |e Contributor |
700 | 1 | _ | |a Sacco, Ralph |b 254 |e Contributor |
700 | 1 | _ | |a Sampson, Jacinda B. |b 255 |e Contributor |
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700 | 1 | _ | |a Schaechter, Judy |b 257 |e Contributor |
700 | 1 | _ | |a Schedl, Timothy |b 258 |e Contributor |
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700 | 1 | _ | |a Scott, Daryl A. |b 260 |e Contributor |
700 | 1 | _ | |a Scott, C. Ron |b 261 |e Contributor |
700 | 1 | _ | |a Seto, Elaine |b 262 |e Contributor |
700 | 1 | _ | |a Shashi, Vandana |b 263 |e Contributor |
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700 | 1 | _ | |a Silverman, Edwin K. |b 265 |e Contributor |
700 | 1 | _ | |a Sinsheimer, Janet S. |b 266 |e Contributor |
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700 | 1 | _ | |a Smith, Edward C. |b 268 |e Contributor |
700 | 1 | _ | |a Smith, Kevin S. |b 269 |e Contributor |
700 | 1 | _ | |a Solnica-Krezel, Lilianna |b 270 |e Contributor |
700 | 1 | _ | |a Solomon, Ben |b 271 |e Contributor |
700 | 1 | _ | |a Spillmann, Rebecca C. |b 272 |e Contributor |
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700 | 1 | _ | |a Sullivan, Jennifer A. |b 275 |e Contributor |
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700 | 1 | _ | |a Sutton, Shirley |b 277 |e Contributor |
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700 | 1 | _ | |a Tan, Queenie K.-G. |b 281 |e Contributor |
700 | 1 | _ | |a Tan, Amelia L. M. |b 282 |e Contributor |
700 | 1 | _ | |a Tarakad, Arjun |b 283 |e Contributor |
700 | 1 | _ | |a Tekin, Mustafa |b 284 |e Contributor |
700 | 1 | _ | |a Telischi, Fred |b 285 |e Contributor |
700 | 1 | _ | |a Thorson, Willa |b 286 |e Contributor |
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700 | 1 | _ | |a Yamamoto, Shinya |b 315 |e Contributor |
700 | 1 | _ | |a Yang, John |b 316 |e Contributor |
700 | 1 | _ | |a Zhang, Zhe |b 317 |e Contributor |
700 | 1 | _ | |a Zuchner, Stephan |b 318 |e Contributor |
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