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Kimberly A. Aldinger

department of pediatrics

43H-index
133Paper Count
8.2KCitation Count
Published Papers 54
Publication Date
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro
err2025-11-24
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errOAAI
errFlorence Desprez; Solène Remize; Liberty François-Moutal; Dévina C. Ung; Audrey Dangoumau; Sylviane Marouillat; Joanna Kennedy; Karen J. Low; Camille Kumps; Sheila Unger; Boris Keren; Jean-Madeleine de Sainte Agathe; Céline Poirsier; Ghayda M. Mirzaa; Kimberly A. Aldinger; Gaetan Lesca; Valentin Ruault; Candice R. Finnila; Whitley V. Kelley; Donald R. Latner; Sushma N. Guptha; Annabelle Tuttle; Ian Glass; Wendy K. Chung; Jennifer Cassady Hayek; Odile Boute; Aubin Moutal; Médéric Jeanne; Frédéric Laumonnier
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Differentiation latency and dormancy signatures define fetal liver hematopoietic stem cells at single-cell resolution
err2025-09-18
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PREAI
errTakashi Ishida; Juliane Mercoli; Adam M. Heck; Ian Phelps; Barbara Varnum-Finney; Stacey Dozono; Cynthia Nourigat-McKay; Katie Kraskouskas; Rachel Wellington; Olivia Waltner; Dana L. Jackson; Colleen Delaney; Shahin Rafii; Irwin D. Bernstein; Kimberly A. Aldinger; Cole Trapnell; Helong G. Zhao; Brandon Hadland
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A clinical and genotype-phenotype analysis of MACF1 variants
err2025-09-08
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PREAI
errJordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures
err2025-06-18
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PREAI
errSankalita Ray Das; Rosie Sullivan; Mischa S.G. Ruegg; Julia Horsfield; Jordan Doran; Gemma Poke; Nathalie de Vries; Sarah Duerinckx; Damien Lederer; Muzhirah Haniffa; Wee-Teik Keng; Gaik-Siew Ch’ng; David A. Parry; Andrew P. Jackson; Masamune Sakamoto; Naomichi Matsumoto; Noriko Miyake; Shin Nabatame; Hidetoshi Taniguchi; Emma Wakeling; Katrin Õunap; Pilvi Ilves; Ghayda Mirzaa; Andrew Timms; Emily Pao; Kimberly A. Aldinger; William Dobyns; Axel Bohring; Beate Behre; Daniel G. Calame; James R. Lupski; Juan M. Pascual; Marc Abramowicz; Gregory Gimenez; Louise S. Bicknell
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Mapping the developmental profile of ventricular zone-derived neurons in the human cerebellum
err2025-04-18
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errOAAI
errErickson, Anders W.; Tan, Henry; Hendrikse, Liam D.; Millman, Jake; Thomson, Zachary; Golser, Joseph; Khan, Omar; He, Guanyi; Bach, Kathleen; Mishra, Arpit Suresh; Kopic, Janja; Krsnik, Zeljka; Encha- Razavi, Ferechte; Petrilli, Giulia; Guimiot, Fabien; Silvestri, Evelina; Aldinger, Kimberly A.; Taylor, Michael D.; Millen, Kathleen J.; Haldipur, Parthiv
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A GROUP 3 MEDULLOBLASTOMA STEM CELL PROGRAM IS MAINTAINED BY OTX2-MEDIATED ALTERNATIVE SPLICING
err2024-11-11
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PREAI
errSaulnier, Olivier; Zagozewski, Jamie; Liang, Lisa; Hendrikse, Liam; Layug, Paul; Gordon, Victor; Aldinger, Kimberly; Haldipur, Parthiv; Borlase, Stephanie; Coudiere-Morrison, Ludivine; Cai, Ting; Martell, Emma; Gonzales, Naomi; Palidwor, Gareth; Porter, Christopher; Richard, Stephane; Sharif, Tanveer; Millen, Kathleen; Doble, Brad; Taylor, Michael; Werbowetski-Ogilvie, Tamra
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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
err2024-10-24
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errOAAI
errPeron, Angela; D'Arco, Felice; Aldinger, Kimberly A.; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A.; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F.; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M.; Bouman, Arjan; Bruel, Ange-Line; Busk, Oyvind Lovold; Campeau, Philippe M.; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J.; Earl, Dawn L.; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J.; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D.; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J.; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S.; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M.; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M.; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B. A.; Guillemot, Francois; Dobyns, William B.; Viskochil, David; Dias, Cristina
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A group 3 medulloblastoma stem cell program is maintained by OTX2-mediated alternative splicing
err2024-07-18
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errOAAI
errSaulnier, Olivier; Zagozewski, Jamie; Liang, Lisa; Hendrikse, Liam D.; Layug, Paul; Gordon, Victor; Aldinger, Kimberly A.; Haldipur, Parthiv; Borlase, Stephanie; Coudiere-Morrison, Ludivine; Cai, Ting; Martell, Emma; Gonzales, Naomi M.; Palidwor, Gareth; Porter, Christopher J.; Richard, Stephane; Sharif, Tanveer; Millen, Kathleen J.; Doble, Brad W.; Taylor, Michael D.; Werbowetski-Ogilvie, Tamra E.
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ALTERNATIVE SPLICING MEDIATED BY OTX2 DRIVES THE DEVELOPMENT OF GROUP 3 MEDULLOBLASTOMA
err2024-06-18
err0
errOAAI
errSaulnier, Olivier; Zagozewski, Jamie; Liang, Lisa; Hendrikse, Liam D.; Layug, Paul; Gordon, Victor; Aldinger, Kimberly A.; Haldipur, Parthiv; Borlase, Stephanie; Coudiere-Morrison, Ludivine; Cai, Ting; Martell, Emma; Palidwor, Gareth; Porter, Christopher J.; Richard, Stephane; Sharif, Tanveer; Doble, Brad W.; Millen, Kathleen J.; Taylor, Michael D.; Werbowetski-Ogilvie, Tamra E.
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Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis
err2023-08-17
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PREAI
errAlves, C. A. P. F.; Sidpra, J.; Manteghinejad, A.; Sudhakar, S.; Massey, F. V.; Aldinger, K. A.; Haldipur, P.; Lucato, L. T.; Ferraciolli, S. F.; Teixeira, S. R.; Oztekin, O.; Bhattacharya, D.; Taranath, A.; Prabhu, S. P.; Mirsky, D. M.; Andronikou, S.; Millen, K. J.; Barkovich, A. J.; Boltshauser, E.; Dobyns, W. B.; Barkovich, M. J.; Whitehead, M. T.; Mankad, K.
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Macrocephaly and developmental delay caused by missense variants in RAB5C
err2023-08-08
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errOAAI
errKoop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter
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Generation of advanced cerebellar organoids for neurogenesis and neuronal network development
err2023-06-30
err14
PREAI
errChen, Ya; Bury, Luke A.; Chen, Fu; Aldinger, Kimberly A.; Miranda, Helen C.; Wynshaw-Boris, Anthony
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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
err2022-10-01
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errHoltz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Sacoto, Maria J. Guillen; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, Andr Prime E.; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O'Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Del Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb; Raby, Benjamin A.
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Refining the Neuroimaging Definition of the Dandy-Walker Phenotype
err2022-09-22
err17
errOAAI
errWhitehead, M. T.; Barkovich, M. J.; Sidpra, J.; Alves, C. A.; Mirsky, D. M.; Oztekin, O.; Bhattacharya, D.; Lucato, L. T.; Sudhakar, S.; Taranath, A.; Andronikou, S.; Prabhu, S. P.; Aldinger, K. A.; Haldipur, P.; Millen, K. J.; Barkovich, A. J.; Boltshauser, E.; Dobyns, W. B.; Mankad, K.
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Human Cerebellar Development and Transcriptomics: Implications for Neurodevelopmental Disorders
err2022-07-08
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errOAAI
errHaldipur, Parthiv; Millen, Kathleen J.; Aldinger, Kimberly A.
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Exome sequencing of >500 individuals with brain malformation phenotypes reveals marked genetic heterogeneity
err2022-03-01
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errOAAI
errChen, Wei-Liang; Timms, Andrew; Pao, Emily; Chong, Jessica; Bamshad, Michael; Nickerson, Debbie; Doherty, Dan; Novotny, Edward; Saneto, Russell; Ellenbogen, Richard; Hauptman, Jason; Ojemann, Jeff; Dobyns, William; Aldinger, Kimberly; Mirzaa, Ghayda
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ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development
err2021-12-02
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errOAAI
errSubramanian, S.; Biswas, A.; Alves, C. A. P. F.; Sudhakar, S., V; Shekdar, K., V; Krishnan, P.; Shroff, M.; Taranath, A.; Arrigoni, F.; Aldinger, K. A.; Leventer, R. J.; Dobyns, W. B.; Mankad, K.
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NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
err2021-11-01
err26
errOAAI
errLiu, Sanxiong; Aldinger, Kimberly A.; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; McNamara, Hanna K.; Zhao, Wukui; Stafford, James M.; Descostes, Nicolas; Lee, Pedro; Caraffi, Stefano G.; Ivanovski, Ivan; Errichiello, Edoardo; Zweier, Christiane; Zuffardi, Orsetta; Schneider, Michael; Papavasiliou, Antigone S.; Perry, M. Scott; Humberson, Jennifer; Cho, Megan T.; Weber, Astrid; Swale, Andrew; Badea, Tudor C.; Mao, Chai-An; Garavelli, Livia; Dobyns, William B.; Reinberg, Danny
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