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Ingo Helbig

children's hospital of philadelphia

73H-index
384Paper Count
2.0WCitation Count
Published Papers 190
Publication Date
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
err2026-05-22
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errOAAI
errAmanda G. Sandoval Karamian; Tianjia Zhu; Hao Huang; Shavonne L. Massey; Mark P. Fitzgerald; Darshana Parikh; Arastoo Vossough; Ingo Helbig; Nicholas S. Abend
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Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
err2026-05-18
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errOAAI
errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinet; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
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Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
err2026-04-15
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errOAAI
errRobert Wang; Feng Wang; Nicole DeBruyne; Xinjun Ji; Nicole M. Engelhardt; Joseph Jee-Hwan Park; Amber Notaro; Samantha Gaerlan; Ryan Park; Matthew J. Schultz; Sheila Clever; Elizabeth M. McCormick; Kelsey Keith; Bobby G. Ng; Kathryn E. Kadash-Edmondson; Hudson H. Freeze; Christina T. Lam; Eva Morava; Ingo Helbig; Marni J. Falk; Rebecca D. Ganetzky; Andrew C. Edmondson; Lan Lin; Yi Xing
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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
err2026-04-08
err0
errOAAI
errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
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Paediatric cerebrospinal fluid immune profiling distinguishes paediatric-onset multiple sclerosis from other paediatric-onset acute neurological disorders
err2026-01-05
err0
errOAAI
errDiego A. Espinoza; Tobias Zrzavy; Gautier Breville; Simon Thebault; Amaar Marefi; Ina Mexhitaj; Luana D. Yamashita; Mengyuan Kan; Micky Bacchus; Jessica Legaspi; Samantha Fernandez; Anna Melamed; Mallory Stubblebine; Angela Winters; Alister Virkler; Ingo Helbig; Yeseul Kim; Zachary Martinez; Caroline Diorio; Andreas Schulte-Mecklenbeck
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Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders
err2025-12-10
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PREAI
errKurganov, Erkin; Cui, Lei; Budnik, Nikita; Chen, Siwei; Olivares, Erick; Baez-Nieto, David; Asan, Ahmet S.; Lusk, Laina; Smith, Lacey; Jo, Sooyeon; Marques, Diogo; Nehme, Ralda; Mullegama, Sureni V.; Lindy, Amanda; George, Alfred L.; Poduri, Annapurna; Helbig, Ingo; Daly, Mark; Pan, Jen Q.
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Clinical trajectories and medication response in TBC1D24-related epilepsies
err2025-11-01
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errOAAI
errMondragon, Ealing; Magielski, Jan H.; Bane, Bintou; Nolan, JoeyLynn; Ruggiero, Sarah M.; Armstrong, Dallas; Arnold, Susan; Sirsi, Deepa; Helbig, Ingo; McKee, Jillian L.
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USP25 in genetic generalized epilepsy: a gene under scrutiny
errBrain
IF11.7
err2025-10-27
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PREAI
errMaryam Erfanian Omidvar; Jill R Murrell; Anna J Prentice; Ingo Helbig; Holger Lerche; Patrick May; Epi25 Collaborative
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
err2025-10-22
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errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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A clinical and genotype-phenotype analysis of MACF1 variants
err2025-09-08
err0
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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Cross-species analysis of adult hippocampal neurogenesis reveals human-specific gene expression but convergent biological processes
err2025-08-11
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PREAI
errYi Zhou; Yijing Su; Qian Yang; Jiaqi Li; Yan Hong; Taosha Gao; Yanqing Zhong; Xueting Ma; Mengmeng Jin; Xinglan Liu; Nini Yuan; Benjamin C. Kennedy; Lizhou Wang; Longying Yan; Angela N. Viaene; Ingo Helbig; Sudha K. Kessler; Joel E. Kleinman; Thomas M. Hyde; David W. Nauen; Cirong Liu; Zhen Liu; Zhiming Shen; Chao Li; Shengjin Xu; Jie He; Daniel R. Weinberger; Guo-li Ming; Hongjun Song
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The genetic and phenotypic spectrum of GABRB1-related disorders
errBrain
IF11.7
err2025-06-05
err0
errOAAI
errCharissa Millevert; Anthony Sze Hon Kan; Moritz Hanke; Mahmoud Koko; Maryam Erfanian Omidvar; Ulrike B S Hedrich; Thomas V Wuttke; Nina Barišić; Lieven Lagae; Ángel Aledo-Serrano; Eva-Maria Niehoff; Konrad Platzer; Pia Zacher; Tilman Polster; Robertino Dilena; Edoardo Monfrini; David Geneviève; Agathe Roubertie; Ange-Line Bruel; Frederic Tran Mau-Them; Majed Dasouki; Stacey Cohen; Ingo Helbig; Alicia G Harrison; Collin Ellis; Holly A Dubbs; Eric D Marsh; Sébastien Lebon; Na He; Heng Meng; Mary Chebib; Rikke S Møller; Carla Marini; Philip K Ahring; Holger Lerche; Sarah Weckhuysen
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Clinical signatures of SYNGAP1-related disorders through data integration
err2025-06-01
err0
PREAI
errMcKee, Jillian L.; Magielski, Jan H.; Xian, Julie; Cohen, Stacey; Toib, Jonathan; Harrison, Alicia; Chen, Chen; Kim, Dan; Rathod, Aakash; Brimble, Elise; Fitter, Nasha; Graglia, J. Michael; Helde, Kathryn A.; Ruggiero, Sarah McKeown; Boland, Michael J.; Prosser, Benjamin L.; Sederman, Rob; Helbig, Ingo
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A Longitudinal Exploration of CACNA1A-Related Hemiplegic Migraine in Children Using Electronic Medical Records
err2025-02-01
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PREAI
errSchaare, Donna; Lusk, Laina; Karlin, Alexis; Kaufman, Michael C.; Magielski, Jan; Sarasua, Sara M.; Allison, Kendra; Boccuto, Luigi; Helbig, Ingo
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Phenotype Spectrum of TRPM3-Associated Disorders
err2025-01-03
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errOAAI
errJolitz, Laura; Helbig, Ingo; Fitzgerald, Mark P.; McKeown Ruggiero, Sarah; Cohen, Stacey; Angelini, Chloe; Vallespin, Elena; Michaud, Vincent; Gerasimenko, Anna; Cogne, Benjamin; Isidor, Bertrand; Keren, Boris; Dyment, David; Heron, Delphine; Karstensen, Helena Gasdal; Cuppen, Inge; Christodoulou, John; Wilson, Meredith; Lake, Nicole J.; Biskup, Saskia; Syrbe, Steffen; Mori, Takayasu; Becker, Lena-Luise; Kaindl, Angela M.
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Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
err2025-01-01
err0
PREAI
errScala, Marcello; Bradley, Clarrisa A.; Howe, Jennifer L.; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S.; Anagnostou, Evdokia; Macdonald, Jeffrey R.; Ko, Sangyoon Y.; Frankland, Paul W.; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F.; Lusk, Laina; Mcdonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni, V; Undiagnosed Dis Network, Undiagnosed Diseases; Douine, Emilie D.; Corona, Rosario Ivetth; Russell, Bianca E.; Nelson, Stanley F.; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W.
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Rare dysfunctional SCN2A variants are associated with malformation of cortical development
err2024-12-21
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errOAAI
errClatot, Jerome; Thompson, Christopher H.; Sotardi, Susan; Jiang, Jinan; Trivisano, Marina; Balestrini, Simona; Ward, D. Isum; Ginn, Natalie; Guaragni, Brunetta; Malerba, Laura; Vakrinou, Angeliki; Sherer, Mia; Helbig, Ingo; Somarowthu, Ala; Sisodiya, Sanjay M.; Ben-Shalom, Roy; Guerrini, Renzo; Specchio, Nicola; George Jr, Alfred L.; Goldberg, Ethan M.
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NORSE, FIRES, and a Polygenic Trickle of Autoimmunity
err2024-12-07
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PREAI
errHelbig, Ingo; Ganesan, Shiva
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Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals
err2024-11-01
err1
PREAI
errGaler, Peter D.; Parthasarathy, Shridhar; Xian, Julie; McKee, Jillian L.; Ruggiero, Sarah M.; Ganesan, Shiva; Kaufman, Michael C.; Cohen, Stacey R.; Haag, Scott; Chen, Chen; Ojemann, William K. S.; Kim, Dan; Wilmarth, Olivia; Vaidiswaran, Priya; Sederman, Casey; Ellis, Colin A.; Gonzalez, Alexander K.; Bosselmann, Christian M.; Lal, Dennis; Sederman, Rob; Lewis-Smith, David; Litt, Brian; Helbig, Ingo
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