Ingo Helbig

Also affiliated with University of Pennsylvania

Biochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

19.9Author DataRank

Indexed papers

7in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 7 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

The Human Phenotype Ontology in 2021

Nucleic Acids Research(2020)10.1093/nar/gkaa1043

Top 3%

7.0DataRank

Top 3%1255 citations

Michael Gargano, Nicolas Matentzoglu, Leigh C Carmody, David Lewis‐Smith, Nicole A. Vasilevsky +46 more

Papers

Driven by 80 papers — median percentile 90. Top paper: “The Human Phenotype Ontology in 2021”.

The Human Phenotype Ontology in 2021

Nucleic Acids Research(2020)10.1093/nar/gkaa1043

Top 3%

7.0DataRank

Top 3%1255 citations

Michael Gargano, Nicolas Matentzoglu, Leigh C Carmody, David Lewis‐Smith, Nicole A. Vasilevsky +46 more

Consensus on diagnosis and management of JME: From founder's observations to current trends

Epilepsy & Behavior(2013)10.1016/j.yebeh.2012.11.051

N/A

5.6DataRank · unranked

166 citations

Bettina Schmitz, Dieter Janz, Antonio V. Delgado-Escueta, Pierre Thomas, Edouard Hirsch +40 more

The Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research(2023)10.1093/nar/gkad1005

Top 6%

3.9DataRank

Top 6%387 citations

Nicolas A Matentzoglu, Ben D Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton +95 more

Assessing the landscape of STXBP1-related disorders in 534 individuals

Brain(2021)10.1093/brain/awab327

Top 9%

2.3DataRank

Top 9%125 citations

Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig +48 more

The Human Cell Atlas White Paper

arXiv (Cornell University)(2018)10.17863/cam.40032

Top 10%

2.2DataRank

Top 10%41 citations

Sarah A. Teichmann, Orit Rozenblatt‐Rosen, Michael J. T. Stubbington, Kristin G. Ardlie, Ido Amit +76 more

Lessons learned from 40 novel PIGA patients and a review of the literature

Epilepsia(2020)10.1111/epi.16545

Top 10%

2.0DataRank

Top 10%58 citations

Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch +49 more

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Genetics in Medicine(2021)10.1038/s41436-021-01120-1

Top 12%

1.7DataRank

Top 12%69 citations

Julie Xian, Katherine L. Helbig, Peter D. Galer, Shridhar Parthasarathy, David Lewis‐Smith +11 more

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Nature Communications(2023)10.1038/s41467-023-39539-6

N/A

1.2DataRank · unranked

56 citations

David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian +94 more

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

Epilepsia(2021)10.1111/epi.16908

Top 25%

0.794DataRank

Top 25%25 citations

Peter D. Galer, Ganna Balagura, Hugh Kearney, Shiva Ganesan, Mahgenn Cosico +8 more

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Nature Genetics(2023)10.1038/s41588-022-01276-9

N/A

0.709DataRank · unranked

112 citations

Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels +76 more

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.009

N/A

0.617DataRank · unranked

60 citations

Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, Yen‐Chen Anne Feng +95 more

Phenotypic and Imaging Spectrum Associated With WDR45

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.03.005

N/A

0.571DataRank · unranked

44 citations

Amy Pizzino, Alka Malhotra, Holly Dubbs, Catherine Williams, Omar Sherbini +17 more

Common Variants Near ZIC1 and ZIC4 in Autopsy‐Confirmed Multiple System Atrophy

Movement Disorders(2022)10.1002/mds.29164

N/A

0.434DataRank · unranked

17 citations

Anja Tietz, Viktoria Ruf, Owen A. Ross, Shunsuke Koga, Dennis W. Dickson +67 more

Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria

medRxiv(2023)10.1101/2023.08.22.23294353

N/A

0.269DataRank · unranked

5 citations

Alina Ivaniuk, Eduardo Pérez‐Palma, Ludovica Montanucci, Stacey Cohen, Lacey Smith +6 more

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.04.011

N/A

0.241DataRank · unranked

4 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +32 more

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data

European Journal of Human Genetics(2021)10.1038/s41431-021-00908-8

N/A

0DataRank · unranked

18 citations

Shiva Ganesan, Peter D. Galer, Katherine L. Helbig, Sarah McKeown, Margaret O’Brien +8 more

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

Brain(2021)10.1093/brain/awab409

N/A

0DataRank · unranked

17 citations

Jolien Roovers, Noor Smal, Candace T. Myers, Dilşad Türkdoğan, Filip Roelens +29 more

Loss of Grin2a Causes a Transient Delay in the Electrophysiological Maturation of Hippocampal Parvalbumin Interneurons: A Possible Mechanism for Transient Seizure Burden in Patients with Null GRIN2A Variants

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.29.474447

N/A

0DataRank · unranked

3 citations

Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G. Banke, Nima Shariatzadeh +14 more

SvAnna: efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.14.452267

N/A

0DataRank · unranked

2 citations

Julius O.B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin T Reese +9 more

Modulating effects of FGF12 variants on Na V 1.2 and Na V 1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.12.03.471090

N/A

0DataRank · unranked

2 citations

Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven +6 more

Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

medRxiv(2021)10.1101/2021.06.01.21257500

N/A

0DataRank · unranked

0 citations

Mitra Forouhan, Maria Lieto, Ambre J. Sala, Ruth Ellerington, Janel O. Johnson +21 more

High-throughput Evaluation of Epilepsy-associated KCNQ2 Variants Reveals Functional and Pharmacological Heterogeneity

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.18.464842

N/A

0DataRank · unranked

0 citations

Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora F. Ghabra +10 more

Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

Epilepsia(2022)10.1111/epi.17332

N/A

0DataRank · unranked

144 citations

Ingo Helbig, Cameron S. Metcalf, Laura S. Lubbers, Lori L. Isom, Scott Demarest +8 more

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

JCI Insight(2022)10.1172/jci.insight.156314

N/A

0DataRank · unranked

66 citations

Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora F. Ghabra +10 more

Ketamine for Management of Neonatal and Pediatric Refractory Status Epilepticus

Neurology(2022)10.1212/wnl.0000000000200889

N/A

0DataRank · unranked

63 citations

Caitlyn Mulvihill, Michael C. Kaufman, Alexander K. Gonzalez, Karla Resendiz, Jennifer MacDonald +5 more

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Neurology(2022)10.1212/wnl.0000000000200715

N/A

0DataRank · unranked

58 citations

David Crosiers, Ganna Balagura, Claudia Bonardi, Anna Basu, Gaetano Cantalupo +36 more

Epilepsy Course and Developmental Trajectories in STXBP1 -DEE

Neurology Genetics(2022)10.1212/nxg.0000000000000676

N/A

0DataRank · unranked

49 citations

Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Loreto Ríos +53 more

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Genome Medicine(2022)10.1186/s13073-022-01046-6

N/A

0DataRank · unranked

42 citations

Julius O.B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin T Reese +9 more

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery

EBioMedicine(2022)10.1016/j.ebiom.2022.104079

N/A

0DataRank · unranked

41 citations

Colin A. Ellis, Ingrid E Scheffer, Shiva Ganesan, Costin Leu, Lynette G. Sadleir +12 more

SCN1A gain‐of‐function mutation causing an early onset epileptic encephalopathy

Epilepsia(2022)10.1111/epi.17444

N/A

0DataRank · unranked

38 citations

Shridhar Parthasarathy, Stacey Cohen, Jillian L. McKee, Shavonne L. Massey, Ala Somarowthu +3 more

Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies

Developmental Medicine & Child Neurology(2022)10.1111/dmcn.15187

N/A

0DataRank · unranked

34 citations

Ingo Helbig, Michael C. Kaufman, Leah Schust Myers, Laura Conway, Katherine L. Helbig +1 more

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.11.002

N/A

0DataRank · unranked

33 citations

Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires +21 more

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

EBioMedicine(2022)10.1016/j.ebiom.2022.104234

N/A

0DataRank · unranked

30 citations

Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven +8 more

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Neurology(2022)10.1212/wnl.0000000000200660

N/A

0DataRank · unranked

21 citations

Simone Seiffert, Manuela Pendziwiat, Annika Rademacher, Tobias Brünger, Ulrike B. S. Hedrich +43 more

PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care

BMC Medical Informatics and Decision Making(2022)10.1186/s12911-022-01927-1

N/A

0DataRank · unranked

18 citations

Anbumalar Singaravelu, Dennis M. Driscoll, Leonard Minkovsky, Ingo Helbig, Līvija Medne +4 more

Child neurology telemedicine: Analyzing 14 820 patient encounters during the first year of the COVID ‐19 pandemic

Developmental Medicine & Child Neurology(2022)10.1111/dmcn.15406

N/A

0DataRank · unranked

7 citations

Julie Xian, Peter D. Galer, Shridhar Parthasarathy, Alexander K. Gonzalez, Jillian L. McKee +4 more

Whole exome sequencing and co‐expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus

Epilepsia(2022)10.1111/epi.17296

N/A

0DataRank · unranked

8 citations

Yanling Pan, Medhane Cumbay, Manuela Pendziwiat, Zaid Afawi, Hadassah Goldberg‐Stern +4 more

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.06.02.492389

N/A

0DataRank · unranked

1 citations

Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires +20 more

The SCN1A Philadelphia variant – a gain-of-function mutation causing an early-onset epileptic encephalopathy

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.06.29.498154

N/A

0DataRank · unranked

1 citations

Shridhar Parthasarathy, Stacey Cohen, Jillian L. McKee, Shavonne L. Massey, Ala Somarowthu +3 more

A disease concept model for STXBP1 -related disorders

medRxiv(2022)10.1101/2022.08.05.22278197

N/A

0DataRank · unranked

1 citations

Sarah M. Ruggiero, Julie Xian, Kim Marie Thalwitzer, Sydni Stewart, Mahgenn Cosico +11 more

The current landscape of epilepsy genetics: where are we, and where are we going?

Current Opinion in Neurology(2023)10.1097/wco.0000000000001141

N/A

0DataRank · unranked

60 citations

Julie Xian, Ingo Helbig, Sarah M. Ruggiero

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Delineating clinical and developmental outcomes in STXBP1-related disorders

Brain(2023)10.1093/brain/awad287

N/A

0DataRank · unranked

42 citations

Kim Marie Thalwitzer, Jillian L. McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch +14 more

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons

Communications Biology(2023)10.1038/s42003-023-05298-9

N/A

0DataRank · unranked

38 citations

Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G. Banke, Nima Shariatzadeh +14 more

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis

Briefings in Bioinformatics(2023)10.1093/bib/bbad284

N/A

0DataRank · unranked

36 citations

Ingo Helbig, Andrew C. Edmondson, Lan Lin, Yi Xing, Robert Wang

A disease concept model for STXBP1 ‐related disorders

Epilepsia Open(2023)10.1002/epi4.12688

N/A

0DataRank · unranked

30 citations

Sarah M. Ruggiero, Julie Xian, Kim Marie Thalwitzer, Rahma Ali, Sydni Stewart +12 more

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding

Artificial Intelligence in Medicine(2023)10.1016/j.artmed.2023.102523

N/A

0DataRank · unranked

25 citations

Peter D. Galer, David Lewis‐Smith, Shridhar Parthasarathy, Edward Kim, Dario D. Salvucci +4 more

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40

Brain(2023)10.1093/brain/awad314

N/A

0DataRank · unranked

13 citations

Thomas Scerri, Adam P. Vogel, Christopher A. Reid, Mara Quach, Victoria E. Jackson +28 more

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

Neurology(2023)10.1212/wnl.0000000000207550

N/A

0DataRank · unranked

11 citations

Jan H. Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Bigna K. Bölsterli +49 more

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Genetics in Medicine(2023)10.1016/j.gim.2023.101023

N/A

0DataRank · unranked

11 citations

Emily K. Mis, Kirsty McWalter, Sandra Donkervoort, Nina N. Brodsky, Jean-Marie Carpier +95 more

Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100823

N/A

0DataRank · unranked

6 citations

Kathryn McCormick, Trisha Brock, Matthew L.B. Wood, Sarah Ruggiero, Kolt Mcbride +5 more

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

medRxiv(2023)10.1101/2023.12.21.23300383

N/A

0DataRank · unranked

4 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +22 more

Delineating clinical and developmental outcomes in STXBP1 -related disorders

medRxiv(2023)10.1101/2023.05.10.23289776

N/A

0DataRank · unranked

1 citations

Kim Marie Thalwitzer, Jillian L. McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch +14 more

Early life seizures and epileptic spasms in STXBP1 -related disorders

medRxiv(2023)10.1101/2023.06.26.23291892

N/A

0DataRank · unranked

1 citations

Julie Xian, Danielle deCampo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan +8 more

Early life seizures and epileptic spasms in STXBP1‐related disorders

Epilepsia(2024)10.1111/epi.17886

N/A

0DataRank · unranked

18 citations

Julie Xian, Danielle de Campo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan +8 more

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.003

N/A

0DataRank · unranked

10 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +29 more

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1 -disorder

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.08.22.609238

N/A

0DataRank · unranked

4 citations

Brandon L. Brown, Nicolas Marotta, Maximilian J. Gessner, Mika Houserova, Icnelia Huerta-Ocampo +12 more

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes

Research Square(2024)10.21203/rs.3.rs-5434140/v1

N/A

0DataRank · unranked

0 citations

Alina Ivanuk, Eduardo Pérez‐Palma, Ludovica Montanucci, Stacey Cohen, Lacey Smith +6 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5

N/A

0DataRank · unranked

3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

Science Translational Medicine(2025)10.1126/scitranslmed.adr0024

N/A

0DataRank · unranked

3 citations

Lei Cui, Nikita Budnik, Siwei Chen, Erick Olivares, David Báez-Nieto +14 more

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome

Proceedings of the National Academy of Sciences(2025)10.1073/pnas.2427085122

N/A

0DataRank · unranked

3 citations

Dechun Chen, Bumsik Cho, Rebecca S. Moore, Mohnish Suri, Hana Safraou +11 more

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 more

USP25 in genetic generalized epilepsy: a gene under scrutiny

Brain(2025)10.1093/brain/awaf406

N/A

0DataRank · unranked

1 citations

Jill R. Murrell, Anna J. Prentice, Ingo Helbig, Holger Lerche, Patrick May +90 more

Variants in BSN , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

medRxiv(2025)10.1101/2025.02.10.25321755

N/A

0DataRank · unranked

0 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +34 more

Comparative molecular landscapes of immature neurons in the mammalian dentate gyrus across species reveal special features in humans

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.02.16.638557

N/A

0DataRank · unranked

0 citations

Yijing Su, Qian Yang, Jiaqi Li, Hong Yan, Taosha Gao +24 more

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.04.23.650298

N/A

0DataRank · unranked

0 citations

Lei Cui, Nikita Budnik, Siwei Chen, Erick Olivares, David Báez-Nieto +11 more

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Brain(2020)10.1093/brain/awaa171

N/A

0DataRank · unranked

81 citations

Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus +86 more

Design and implementation of electronic health record common data elements for pediatric epilepsy: Foundations for a learning health care system

Epilepsia(2020)10.1111/epi.16733

N/A

0DataRank · unranked

64 citations

Anup D. Patel, Renée A. Shellhaas, Anne T. Berg, Erika Axeen, Jeffrey Bolton +20 more

Early-onset genetic epilepsies reaching adult clinics

Brain(2020)10.1093/brain/awaa029

N/A

0DataRank · unranked

19 citations

Colin A. Ellis, Ingo Helbig, Rhys H. Thomas, David Lewis‐Smith

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.08.003

N/A

0DataRank · unranked

46 citations

Shiva Ganesan, David Lewis‐Smith, Sarah McKeown, Manuela Pendziwiat, Katherine L. Helbig +13 more

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

Genetics in Medicine(2020)10.1038/s41436-020-0923-1

N/A

0DataRank · unranked

40 citations

Peter D. Galer, Katherine L. Helbig, Sarah McKeown, Margaret O’Brien, Alexander K. Gonzalez +5 more

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Brain(2020)10.1093/brain/awaa085

N/A

0DataRank · unranked

32 citations

Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tüysüz +40 more

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51062

N/A

0DataRank · unranked

28 citations

Giulia Barcia, Manuela Pendziwiat, Shiva Ganesan, Stefanie H. Mueller, Katherine L. Helbig +14 more

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

medRxiv(2020)10.1101/2020.08.31.20184481

N/A

0DataRank · unranked

3 citations

Keith A. Breau, Blake A. Creighton, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +63 more

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature Genetics(2021)10.1038/s41588-021-00886-z

N/A

0DataRank · unranked

108 citations

Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +70 more

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0DataRank · unranked

52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.11.003

N/A

0DataRank · unranked

34 citations

Stéphanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca +35 more

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Brain Communications(2021)10.1093/braincomms/fcab245

N/A

0DataRank · unranked

32 citations

Mitra Forouhan, Maria Lieto, Ambre J. Sala, Ruth Ellerington, Janel O. Johnson +53 more

Atypical development of Broca’s area in a large family with inherited stuttering

Brain(2021)10.1093/brain/awab364

N/A

0DataRank · unranked

20 citations

Thomas Scerri, Susan Block, Samantha J. Turner, Sheena Reilly, Elaina Kefalianos +8 more

Ingo Helbig

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