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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
Manuela Morleo, Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A. High, Jiahai Shi, Maria T. Acosta, Margaret P Adam, David R. Adams, Raquel L. Alvarez, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pinar Bayrak‐Toydemir, Anita E. Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, Rosario I. Corona, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Esteban C. Dell’Angelica, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng, Marni J. Falk, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, Ian A. Glass, Bernadette R. Gochuico, Pagé C. Goddard, Rena A. Godfrey, Katie Golden‐Grant, Alana Grajewski, Don Hadley, Sihoun Hahn, Meghan C. Halley, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike‐Pyne, Alden Huang, Sarah Hutchison, Wendy J. Introne, Rosario Isasi, Kosuke Izumi, Fariha Jamal, Gail P. Jarvik, Jeffrey G. Jarvik, Suman Jayadev, Orpa Jean-Marie, Vaidehi Jobanputra, Lefkothea Karaviti, Shamika Ketkar, Dana Kiley, Gonench Kilich, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Susan Korrick, Mary Kozuira, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Seema R. Lalani, Byron Lam, Christina Lam, Brendan C. Lanpher, Ian R. Lanza, Kimberly LeBlanc, Brendan Lee, Roy C. Levitt, Richard A. Lewis, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, AudreyStephannie Maghiro, Rachel Mahoney, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth R. Maravilla, Ronit Marom, Gábor Marth, Beth A. Martin, Martín G. Martín, Julián A. Martínez-Agosto, Shruti Marwaha, Jacob L. McCauley, Allyn McConkie‐Rosell, Alexa T. McCray, Elisabeth McGee, Heather C. Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Éva Morava, Paolo Moretti, John J. Mulvihill, Mariko Nakano‐Okuno, Stanley F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah A. Nickerson, Shirley Nieves‐Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen C. Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Jennifer E. Posey, Lorraine Potocki, Barbara N. Pusey Swerdzewski, Aaron R. Quinlan, Anna Raper, Wendy H. Raskind, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph L. Sacco, Jacinda B. Sampson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, C. Ron Scott, Vandana Shashi, Jimann Shin, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Lilianna Solnica‐Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Kathleen E. Sullivan, Jennifer A. Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia P. Sybert, Holly K. 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Kroes, Koen L.I. van Gassen, Muhammad Bilal, Muhammad Umair, Tania Attié‐Bitach, Jeannine Amiel, Resham Ejaz, Pankaj B. Agrawal, Filippo Del Bene, Brunella Franco
Bibliographic record
VenueThe American Journal of Human Genetics · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCellular transport and secretion
Canadian institutionsMcMaster Children's Hospital
FundersCommon FundHorizon 2020Horizon 2020 Framework ProgrammeNational Institutes of HealthFondazione Cassa di Risparmio di FirenzeFondation pour la Recherche MédicaleRegione ToscanaNational Institute of Neurological Disorders and StrokeFondazione TelethonLigue Contre le CancerCenter for Clinical and Translational ResearchEuropean CommissionSeventh Framework ProgrammeEnte Cassa di Risparmio di FirenzeAssociazione Italiana per la Ricerca sul CancroNational Center for Advancing Translational SciencesNational Human Genome Research InstituteAgence Nationale de la Recherche
KeywordsBiologyMissense mutationLissencephalyJoubert syndromePhosphatidylinositolMicrocephalyPhosphatidylinositol 4,5-bisphosphateGeneticsCell biologyPhenotypeKinaseGene
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.018
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.004 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.003 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.013
GPT teacher head0.240
Teacher spread0.227 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations7
Published2023
Admission routes1
Has abstractno