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Michael C. Kruer

Phoenix Children's Hospital

44H-index
218Paper Count
1.3WCitation Count
Published Papers 102
Publication Date
Clinical, genetic, neuroimaging, and severity spectrum of peroxisomal disorders in Iran: a multicenter cohort study
err2026-08-12
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errOAAI
errGolazin Shahbodagh Khan; Narges Mashayekhi; Shiva Bayat; Mehran Beiraghi Toosi; Sareh Hosseinpour; Neda Pak; Danielle Dircks; Zahra Rezaei; Reza Shervin Badv; Gholam Reza Zamani; Mahmoud Mohammadi; Mojtaba Movahednia; Parvaneh Karimzadeh; Reza Maroofian; Michael C. Kruer; Ehsan Ghayoor Karimiani; Masoud Garshasbi; Mahmoud Reza Ashrafi; Morteza Heidari; Ali Reza Tavasoli
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Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome)
err2026-03-01
err0
PREAI
errGalaz-montoya, Carolina I.; Lewis, Sara A.; Galindo, Maureen K.; Cornejo, Patricia; Skidmore, Peter T.; Bisarad, Pritha; Magee, Helen; Bontempo, Kelly; Keren, Boris; Afenjar, Alexandra; Skorvanek, Matej; Zech, Michael; Wentzensen, Ingrid M.; Gurnett, Christina A.; Chung, Wendy K.; Bakhtiari, Somayeh; Kruer, Michael C.
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De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders
err2026-01-23
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errOAAI
errKevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. Bernard
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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive
err2026-01-16
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PREAI
errJohannesen, Katrine M.; Aung, Khaing Phyu; Liao, Vivian W. Y.; Absalom, Nathan; Chua, Han C.; Gan, Xue N.; Mao, Miaomiao; McKenzie, Chaseley E.; Lee, Hian M.; Ortiz, Sebastian; Spillmann, Rebecca C.; Shashi, Vandana; Radtke, Rodney A.; Mirzaa, Ghayda M.; Weisner, P. Anne; Daboub, Josue Flores; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid M. B. H.; van Slegtenhorst, Marjon A.; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K.; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M.; Kruer, Michael C.; Bisarad, Pritha; Galaz-Montoya, Carolina I.; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C.; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F.; Scheffer, Ingrid E.; Chebib, Mary; Rubboli, Guido; Moller, Rikke S.; Reid, Christopher A.; Ahring, Philip K.
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A transposase-derived gene required for human brain development
err2026-01-14
err1
PREAI
errZapater, Luz Jubierre; Lewis, Sara A.; Gutierrez, Rodrigo Lopez; Yamada, Makiko; Rodriguez-Fos, Elias; Planas-Felix, Merce; Cameron, Daniel; Demarest, Phillip; Nabila, Anika; Mueller, Helen S.; Zhao, Junfei; Bergin, Paul; Reed, Casie; Chwat-Edelstein, Tzippora; Pagnozzi, Alex; Nava, Caroline; Bourel-Ponchel, Emilie; Cornejo, Patricia; Dursun, Ali; Ozgul, R. Koksal; Akar, Halil Tuna; Houlden, Henry; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Zifarelli, Giovanni; Bauer, Peter; Essid, Miriam; Benrhouma, Hanene; Hafsa, Meriem Ben; Kraoua, Ichraf; Galaz-Montoya, Carolina I.; Proekt, Alex; Zhao, Xiaolan; Socci, Nicholas D.; Hayes, Matthew; Bigot, Yves; Rabadan, Raul; Maroofian, Reza; Torrents, David; Kleinmann, Claudia L.; Kruer, Michael C.; Toth, Miklos; Kentsis, Alex
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Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
errBRAIN
IF11.7
err2025-12-01
err0
PREAI
errMaroni, Marissa J.; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R.; Campbell, Philip D.; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Victor; Repetto, Gabriela M.; McKenna, Caoimhe; Shillington, Amelle L.; Phornphutkul, Chanika; Hove, Hanne B.; Mancini, Grazia M. S.; Schot, Rachel; Barakat, Tahsin Stefan; Richmond, Christopher M.; Lauzon, Julie; Ibrahim, Ahmed Ibrahim Elsayed; Nava, Caroline; Heron, Delphine; van Aalst, Minke M. A.; Atemin, Slavena; Sleptsova, Mila; Aleksandrova, Iliyana; Todorova, Albena; Watkins, Debra L.; Kozenko, Mariya A.; Natera-de Benito, Daniel; Ortez, Carlos; Estevez-Arias, Berta; Lecoquierre, Francois; Cassinari, Kevin; Guerrot, Anne-Marie; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Innes, A. Micheil; Yang, Xiao-Ru; Banka, Siddharth; Vill, Katharina; Jacob, Maureen; Kruer, Michael; Skidmore, Peter; Galaz-Montoya, Carolina, I; Bakhtiari, Somayeh; Mester, Jessica L.; Granato, Michael; Armache, Karim-Jean; Costain, Gregory; Korb, Erica
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Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral Palsy
err2025-11-21
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errOAAI
errYiran Xu; Chi Ma; Yanyan Sun; Jiajun Zhu; Shiman He; Hui Gao; Subei Tan; Lingling Zhang; Jinwen Feng; Yangong Wang; Sha Tian; Qinghe Xing; Jiamei Zhang; Yanan Wu; Xiaoli Zhang; Lirong Zhang; Dengna Zhu; Michael Kruer; Xiaoyang Wang; Jozef Gecz; Changlian Zhu; Chen Ding
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
err2025-11-10
err0
errOAAI
errGhayda M. Mirzaa; Keqin Yan; Raissa Relator; Mathieu Levesque; Pranisha Jayasinghe; Sara Timpano; Binnaz Yalcin; Stephan Collins; Alban Ziegler; Emily Pao; Nora Oyama; Elise Brischoux-Boucher; Juliette Piard; Kristin G. Monaghan; Maria. J. Guillen Sacoto; William B. Dobyns; Kristen L. Park; Daniel Martin Fernández-Mayoralas; Alberto Fernández-Jaén; Parul Jayakar; María Palomares-Bralo; Fernando Santos-Simarro; Alfredo Brusco; Vincenzo Antona; Elisa Giorgio; Malin Kvarnung; Bertrand Isidor; Solène Conrad; Benjamin Cogné; Wallid Deb; Kyra E. Stuurman; Katalin Štěrbová; Noor Smal; Sarah Weckhuysen; Renske Oegema; A. Micheil Innes; Daniel. C. Koboldt; Tawfeg Ben-Omran; Rebecca C. Yeh; Michael C. Kruer; Somayeh Bakhtiari; Antigone Papavasiliou; Sébastien Moutton; Sophie Nambot; Sirisak Chanprasert; Sarah A. Paolucci; Kait Miller; Barbara Burton; Katherine Kim; Emily O’Heir; Zandre Bruwer; Kirsten. A. Donald; Tjitske Kleefstra; Amy Goldstein; Brad Angle; Kelly Bontempo; Peter Miny; Pascal Joset; Florence Demurger; Emma Hobson; Lewis Pang; Lori Carpenter; Dong Li; Dominique Bonneau; Bekim Sadikovic; David J. Picketts
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Combined Dietary Restriction and Chelation Therapy Reduces Manganese Burden in SLC39A14-Associated Manganism
err2025-10-24
err0
PREAI
errMichael C. Kruer MD; Peter T. Skidmore BS; Brielle Edwards BS; Jennifer Heim MD; James Kelbert BS; Nathan Evans Pharm D; Alex King MS; Patricia Cornejo MD; Francisco Ponce MD; Lisa Vanatta MS; Alex M. Pagnozzi PhD; Ningning Zhao PhD
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LONP1 Variants Are Associated With Clinically Diverse Phenotypes
err2025-09-10
err0
PREAI
errRandee E. Young; Lu Qiao; Rebecca Hernan; David A. Sweetser; Jessica L. Waxler; Daryl A. Scott; Tiana M. Scott; Seema R. Lalani; Mahshid S. Azamian; Jill A. Rosenfeld; Bret Bostwick; Lindsay C. Burrage; Undiagnosed Diseases Network; Lance H. Rodan; Bianca E. Russell; Marina Dutra-Clarke; Michael Kruer; Somayeh Bakhtiarim; Hossein Darvish; David J. Amor; Shamima Rahman; Karen Stals; Lisa Bradley; Susan Byrne; Leandra K. Tolusso; Beatrix Wong; Laura Benedict; Kimberly Wallis; Kestutis Micke; Cindy Colson; Thomas Smol; Sabrina V. Southwick; Kristen A. Miller; Michelle L. Kush; Odelia Chorin; Annick Rothschild; Wei Wang; Yufeng Shen; Wendy K. Chung
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Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients
errBrain
IF11.7
err2025-08-14
err0
PREAI
errVicente Quiroz; Julian E Alecu; Umar Zubair; Katerina Bernardi; Zainab Zaman; Joshua Rong; Amy Tam; Avaneesh Kunta; Habibah A P Agianda; Nicole Battaglia; Henri J D Schmidt; Dario Resch; Noah Wyman; Lindsey M Vogt; Wafa Bani Uraba; Leonie F Becker; Kavitha Kothur; Deepak Gill; Bernardita Suarez; Javiera I Jofre; Carolina Arias; Claudia Castiglioni; Patricia Dumke da Silva Möller; Andre Felipe Pinto Duarte; Alexander Eggers-Lisboa; Loreto Ríos-Pohl; Magdalena Gonzalez-Ubilla; Chinmay Chaudhari; Ainara Salazar-Villacorta; Xiaojuan Tian; Lifang Dai; Changhong Ding; Mina Zamani; Pardis Nourbakhsh; Gholamreza Shariati; Tamara Pringsheim; Wei Kang Lim; Emanuele Bartolini; Maria Stamelou; Poonam Bhatia; Michael C Kruer; Soaham Desai; Mary Iype; Ján Necpál; David Crosiers; Hannah F Jones; Javier Ricardo Perez-Sanchez; Esra Demir Unal; Nuria Lopez-Ariztegui; Sruthi Kola; Wei-Sheng Lin; Alia Hassan Mansour; Chahnez Charfi Triki; Emilio Fernandez-Alvarez; Emmanuel Roze; Jitendra Kumar Sahu; Asif Doja; Nardo Nardocci; Davide Caputo; Anne Koy; Sanjay Bhate; Marios Kaliakatsos; Robert Robinson; Jane Hassell; Roser Pons; Alexander Munchau; Luca Soliani; Alonso Zea-Vera; Laura Tochen; Hugo Morales-Briceño; Russell C Dale; Alissa D’Gama; Tobias Loddenkemper; Phillip L Pearl; Shekeeb S Mohammad; Manju A Kurian; Carolina Gorodetsky; Juan Darío Ortigoza-Escobar; Luca Schierbaum; Kathryn Yang; Darius Ebrahimi-Fakhari
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A programmed decline in ribosome levels governs human early neurodevelopment
err2025-08-04
err0
errOAAI
errChunyang Ni; Yudong Wei; Barbara Vona; Dayea Park; Yulei Wei; Daniel A. Schmitz; Yi Ding; Masahiro Sakurai; Emily Ballard; Leijie Li; Yan Liu; Ashwani Kumar; Chao Xing; Shenlu Qin; Sangin Kim; Martina Foglizzo; Jianchao Zhao; Hyung-Goo Kim; Cumhur Ekmekci; Ehsan Ghayoor Karimiani; Shima Imannezhad; Fatemeh Eghbal; Reza Shervin Badv; Eva Maria Christina Schwaibold; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi; Zahra Metanat; Hosein Eslamiyeh; Ebtissal Khouj; Saleh Mohammed Nasser Alhajj; Aziza Chedrawi; Khushnooda Ramzan; Jamil A. Hashmi; Majed M. Alluqmani; Sulman Basit; Danai Veltra; Nikolaos M. Marinakis; Georgios Niotakis; Pelagia Vorgia; Christalena Sofocleous; Hane Lee; Won Chan Jeong; Muhammad Umair; Muhammad Bilal; César Augusto Pinheiro Ferreira Alves; Matthew Sieber; Michael Kruer; Henry Houlden; Fowzan S. Alkuraya; Elton Zeqiraj; Roger A. Greenberg; Can Cenik; Leqian Yu; Reza Maroofian; Jun Wu; Michael Buszczak
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Chronic Striatal Cholinergic Interneuron Excitation Causes Cerebral Palsy-Related Dystonic Behavior in Mice
err2025-07-03
err0
PREAI
errKat Gemperli BA; Xinguo Lu PhD; Keerthana Chintalapati BA; Alyssa Rust BS; Rishabh Bajpai PhD; Nathan Suh; Joanna Blackburn MD; Rose Gelineau-Morel MD; Michael C. Kruer MD; Dararat Mingbunjerdsuk MD; Jennifer O'Malley MD; Laura Tochen MD; Jeff L. Waugh MD; Steve Wu MD; Timothy Feyma MD; Joel Perlmutter MD; Steven Mennerick PhD; Jordan G. McCall PhD, MPH; Bhooma R. Aravamuthan MD, DPhil
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A description and a diagnostic framework: Synergy for practical cerebral palsy diagnosis and care
err2025-07-01
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PREAI
errAravamuthan, Bhooma; Fehlings, Darcy; Novak, Iona; Fahey, Michael; Fowler, Eileen; Kruer, Michael; Chambers, Henry
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Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis
err2025-02-01
err0
errOAAI
errLewis, Sara A.; Chopra, Maya; Cohen, Julie S.; Bain, Jennifer M.; Aravamuthan, Bhooma; Carmel, Jason B.; Fahey, Michael C.; Segel, Reeval; Wintle, Richard F.; Zech, Michael; May, Halie; Haque, Nahla; Fehlings, Darcy; Srivastava, Siddharth; Kruer, Michael C.
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Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases
err2024-11-01
err0
PREAI
errAlstrup, Morten; Cesca, Fabrizia; Krawczun-Rygmaczewska, Alicja; Lopez-Menendez, Celia; Pose-Utrilla, Julia; Castberg, Filip Christian; Bjerager, Mia Ortved; Finnila, Candice; Kruer, Michael C.; Bakhtiari, Somayeh; Padilla-Lopez, Sergio; Manwaring, Linda; Keren, Boris; Afenjar, Alexandra; Galatolo, Daniele; Scalise, Roberta; Santorelli, Fillippo M.; Shillington, Amelle; Vezain, Myriam; Martinovic, Jelena; Stevens, Cathy; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Thiffault, Isabelle; Pastinen, Tomi; Baranano, Kristin; Lee, Angela; Granadillo, Jorge; Glassford, Megan R.; Keegan, Catherine E.; Matthews, Nicole; Saugier-Veber, Pascale; Iglesias, Teresa; Ostergaard, Elsebet
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Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome
err2024-10-01
err1
errOAAI
errSmits, Daphne J.; Dekker, Jordy; Douben, Hannie; Schot, Rachel; Magee, Helen; Bakhtiari, Somayeh; Koehler, Katrin; Huebner, Angela; Schuelke, Markus; Darvish, Hossein; Vosoogh, Shohreh; Tafakhori, Abbas; Jameie, Melika; Taghiabadi, Ehsan; Wilson, Yana; Shah, Margit; van Slegtenhorst, Marjon A.; Medici-van den Herik, Evita G.; van Ham, Tjakko J.; Kruer, Michael C.; Mancini, Grazia M. S.
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Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome
err2024-09-01
err3
errOAAI
errSerafim, Ana Beatriz; Olive-Cirera, Gemma; Ortega-Gonzalez, Angel; Kruer, Michael C.; Weese-Mayer, Debra; Rand, Casey M.; Fons, Carmen; Fernandez-Ramos, Joaquin Alejandro; Clemente, Maria; Simabukuro, Mateus Mistieri; Embirucu, Emilia Katiane; Ibanez-Mico, Salvador; Dalmau, Josep O.; Graus, Francesc; Armangue, Thais; Sabater, Lidia
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Potential clinical applications of advanced genomic analysis in cerebral palsy
err2024-08-01
err0
errOAAI
errLewis, Sara A.; Ruttenberg, Andrew; Iyiyol, Tugce; Kong, Nahyun; Jin, Sheng Chih; Kruer, Michael C.
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