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Henrike O. Heyne
Henrike O. Heyne
Hasso Plattner Institute Potsdam/Mount Sinai, FIMM, University of Helsinki, Broad Institute of MIT
Verified email at broadinstitute.org - Homepage
Title
Cited by
Cited by
Year
STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
2462016
De novo variants in neurodevelopmental disorders with epilepsy
HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ...
Nature genetics 50 (7), 1048-1053, 2018
2002018
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ...
Journal of medical genetics 54 (7), 460-470, 2017
1762017
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
1522019
Delineating the GRIN1 phenotypic spectrum: a distinct genetic NMDA receptor encephalopathy
JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ...
Neurology 86 (23), 2171-2178, 2016
1522016
GRIN2A-related disorders: genotype and functional consequence predict phenotype
V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ...
Brain 142 (1), 80-92, 2019
1052019
Neolithic and medieval virus genomes reveal complex evolution of hepatitis B
B Krause-Kyora, J Susat, FM Key, D Kühnert, E Bosse, A Immel, C Rinne, ...
Elife 7, e36666, 2018
962018
Rare coding variants in ten genes confer substantial risk for schizophrenia
T Singh, T Poterba, D Curtis, H Akil, M Al Eissa, JD Barchas, N Bass, ...
Nature 604 (7906), 509-516, 2022
942022
Widely used commercial ELISA does not detect precursor of haptoglobin2, but recognizes properdin as a potential second member of the zonulin family
L Scheffler, A Crane, H Heyne, A Tönjes, D Schleinitz, CH Ihling, ...
Frontiers in endocrinology 9, 22, 2018
87*2018
Adipose tissue derived bacteria are associated with inflammation in obesity and type 2 diabetes
L Massier, R Chakaroun, S Tabei, A Crane, KD Didt, J Fallmann, ...
Gut 69 (10), 1796-1806, 2020
862020
Genetic influences on brain gene expression in rats selected for tameness and aggression
HO Heyne, S Lautenschläger, R Nelson, F Besnier, M Rotival, A Cagan, ...
Genetics 198 (3), 1277-1290, 2014
662014
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
S Syrbe, FL Harms, E Parrini, M Montomoli, U Mütze, KL Helbig, T Polster, ...
Brain 140 (9), 2322-2336, 2017
612017
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
HO Heyne, D Baez-Nieto, S Iqbal, DS Palmer, A Brunklaus, P May, ...
Science translational medicine 12 (556), eaay6848, 2020
572020
Paternal-age-related de novo mutations and risk for five disorders
JL Taylor, JCPG Debost, SU Morton, EM Wigdor, HO Heyne, D Lal, ...
Nature communications 10 (1), 1-9, 2019
562019
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
A Brunklaus, J Du, F Steckler, II Ghanty, KM Johannesen, CD Fenger, ...
Epilepsia 61 (3), 387-399, 2020
502020
FinnGen: Unique genetic insights from combining isolated population and national health register data
MI Kurki, J Karjalainen, P Palta, TP Sipilä, K Kristiansson, K Donner, ...
medRxiv, 2022
422022
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants
S Iqbal, E Pérez-Palma, JB Jespersen, P May, D Hoksza, HO Heyne, ...
Proceedings of the National Academy of Sciences 117 (45), 28201-28211, 2020
39*2020
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
HO Heyne, M Artomov, F Battke, C Bianchini, DR Smith, N Liebmann, ...
Genetics in Medicine 21 (11), 2496-2503, 2019
342019
Identification of pathogenic variant enriched regions across genes and gene families
E Pérez-Palma, P May, S Iqbal, LM Niestroj, J Du, HO Heyne, ...
Genome research 30 (1), 62-71, 2020
302020
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ...
Brain 145 (9), 2991-3009, 2022
262022
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