Michael S. Hildebrand

Also affiliated with Murdoch Children's Research Institute, Austin Health

MedicineBiochemistry, Genetics and Molecular Biology

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 22 papers. Top paper: “Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype”.

Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype

Epilepsia Open(2021)10.1002/epi4.12553

N/A

0.680DataRank · unranked

12 citations

Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green +7 more

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

Brain(2021)10.1093/brain/awab260

N/A

0.626DataRank · unranked

64 citations

João Fadista, Jonas Bybjerg‐Grauholm, Vivek Appadurai, Michael S. Hildebrand, Thomas Folkmann Hansen +34 more

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0.568DataRank · unranked

43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

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

Brain(2023)10.1093/brain/awad314

N/A

0.406DataRank · unranked

14 citations

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

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

Proceedings of the National Academy of Sciences(2025)10.1073/pnas.2509622122

N/A

0.396DataRank · unranked

13 citations

Maya Talukdar, Edward Stronge, Rosita B. Ramirez, Yingxi Yang, August Yue Huang +20 more

PIGNencephalopathy: Characterizing the epileptology

Epilepsia(2022)10.1111/epi.17173

N/A

0.330DataRank · unranked

8 citations

Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino +64 more

Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

medRxiv(2022)10.1101/2022.12.23.22283854

N/A

0.269DataRank · unranked

5 citations

Yilan Wang, Yasmine Chahine, E. Zeynep Erson‐Omay, Stephanie M. Robert, Emre Kiziltug +36 more

Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes

medRxiv(2020)10.1101/2020.11.18.20233916

N/A

0.208DataRank · unranked

3 citations

João Fadista, Jonas Bybjerg‐Grauholm, Vivek Appadurai, Michael S. Hildebrand, Thomas Folkmann Hansen +34 more

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report

Epilepsia Open(2023)10.1002/epi4.12887

N/A

0.165DataRank · unranked

2 citations

Michael S. Hildebrand, Guillem de Valles‐Ibáñez, Ngaire Keenan, Zimeng Ye, Christy W. LaFlamme +5 more

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Neuron(2020)10.1016/j.neuron.2020.01.027

N/A

0DataRank · unranked

35 citations

Alison M. Muir, Won‐Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao +26 more

Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies

medRxiv(2021)10.1101/2021.04.20.21255696

N/A

0DataRank · unranked

3 citations

Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway +17 more

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.09.005

N/A

0DataRank · unranked

54 citations

Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti +37 more

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Neurology(2022)10.1212/wnl.0000000000201492

N/A

0DataRank · unranked

24 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +50 more

Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy

Brain(2022)10.1093/brain/awac082

N/A

0DataRank · unranked

23 citations

Gaga Kochlamazashvili, Sara Baldassari, Albert Ian Mackintosh, Laura Licchetta, Emanuela Iovino +27 more

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

EBioMedicine(2022)10.1016/j.ebiom.2022.104244

N/A

0DataRank · unranked

21 citations

Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway +17 more

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

medRxiv(2022)10.1101/2022.04.26.22274147

N/A

0DataRank · unranked

0 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +49 more

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Genetics in Medicine(2020)10.1038/s41436-020-00988-9

N/A

0DataRank · unranked

56 citations

Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam +80 more

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE‐SWAS)

Annals of Neurology(2024)10.1002/ana.27041

N/A

0DataRank · unranked

18 citations

Karen Oliver, Brigid M. Regan, Amy Schneider, Candace T. Myers, Michele G. Mehaffey +22 more

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

Nature Communications(2020)10.1038/s41467-020-16819-z

N/A

0DataRank · unranked

95 citations

Maria Kauppi, Ian J. Majewski, Zikou Liu, Allison Cox, Sanae Miyake +65 more

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Epilepsia(2020)10.1111/epi.16475

N/A

0DataRank · unranked

24 citations

Guillem de Valles‐Ibáñez, Chontelle King, Matthew Coleman, Stuart Mossman, Sarah Paterson +8 more

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions

Human Molecular Genetics(2021)10.1093/hmg/ddab366

N/A

0DataRank · unranked

20 citations

Joshua E. Motelow, Mark F. Bennett, Zimeng Ye, Caitlin A. Bennett, Nicole G. Griffin +17 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