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H. Prokisch · SciRah

Researcher profile · Semantic Scholar

H. Prokisch

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H. Prokisch — researcher profile on SciRah

h-index: 99
Works: 481
Citations: 40K

Most-cited papers

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
U. Võsa, A. Claringbould, H. Westra, M. Bonder +104 more
2021Nature Genetics2,043 citations Open access
Semantic Scholar
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
V. Yépez, Mirjana Gusic, R. Kopajtich, C. Mertes +49 more
2021Genome Medicine179 citations Open access
Semantic Scholar
Detection of aberrant splicing events in RNA-seq data using FRASER
C. Mertes, Ines F. Scheller, V. Yépez, M. H. Çelik +5 more
2021Nature Communications154 citations Open access
Semantic Scholar
Detection of aberrant gene expression events in RNA sequencing data
V. Yépez, C. Mertes, M. F. Mueller, Daniela Klaproth-Andrade +7 more
2021Nature Protocols132 citations Open access
Semantic Scholar
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function
Johann S. Hawe, R. Wilson, Katharina T. Schmid, Li Zhou +84 more
2022Nature Genetics131 citations Open access
Semantic Scholar
Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour
M. Mills, Felix C. Tropf, D. Brazel, N. V. van Zuydam +202 more
2021Nature Human Behaviour130 citations Open access
Semantic Scholar
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
S. L. Stenton, N. L. Sheremet, C. Catarino, N. Andreeva +50 more
2021Journal of Clinical Investigation130 citations Open access
Semantic Scholar
Aberrant splicing prediction across human tissues
N. Wagner, M. H. Çelik, Florian R. Hölzlwimmer, C. Mertes +3 more
2022bioRxiv84 citations
Semantic Scholar
DNA methylation and lipid metabolism: an EWAS of 226 metabolic measures
Monica del C. Gomez-Alonso, A. Kretschmer, R. Wilson, Liliane Pfeiffer +27 more
2021Clinical Epigenetics77 citations Open access
Semantic Scholar
ncRNAs: New Players in Mitochondrial Health and Disease?
Mirjana Gusic, H. Prokisch
2020Frontiers in Genetics69 citations Open access
Semantic Scholar
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
S. Wortmann, M. Oud, M. Alders, K. Coene +17 more
2022Journal of Inherited Metabolic Disease60 citations Open access
Semantic Scholar
Meta-analyses identify DNA methylation associated with kidney function and damage
P. Schlosser, A. Tin, P. Matías-García, C. Thio +109 more
2021Nature Communications59 citations Open access
Semantic Scholar
Genetic basis of mitochondrial diseases
Mirjana Gusic, H. Prokisch
2021FEBS Letters58 citations
Semantic Scholar
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation
A. Stavsky, O. Stoler, M. Kostic, Tomer Katoshevsky +10 more
2021Communications Biology51 citations Open access
Semantic Scholar
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases
Jing Tan, M. Wagner, S. L. Stenton, T. Strom +5 more
2020EBioMedicine50 citations Open access
Semantic Scholar
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines
C. Alston, S. L. Stenton, G. Hudson, H. Prokisch +1 more
2021Journal of Pathology47 citations Open access
Semantic Scholar
Smoking-related changes in DNA methylation and gene expression are associated with cardio-metabolic traits
Silvana C. E. Maas, Michelle M. J. Mens, Brigitte Kühnel, J. V. van Meurs +10 more
2020Clinical Epigenetics45 citations Open access
Semantic Scholar
Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders
R. Kopajtich, Dmitrii Smirnov, S. L. Stenton, Stefan Loipfinger +38 more
2021medRxiv43 citations Open access
Semantic Scholar
Integrative omics approaches to advance rare disease diagnostics
Dmitrii Smirnov, Nikita Konstantinovskiy, H. Prokisch
2023Journal of Inherited Metabolic Disease38 citations Open access
Semantic Scholar
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
S. L. Stenton, Ying Zou, Hua Cheng, Zhi-Mei Liu +15 more
2022Annals of Neurology37 citations
Semantic Scholar
Variants in mitochondrial ATP synthase cause variable neurologic phenotypes
M. Zech, R. Kopajtich, K. Steinbrücker, C. Bris +30 more
2021Annals of Neurology36 citations Open access
Semantic Scholar
Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer.
C. Kratz, Dmitrii Smirnov, R. Autry, N. Jäger +9 more
2022Journal of the National Cancer Institute34 citations Open access
Semantic Scholar
RNA sequencing role and application in clinical diagnostic
F. Peymani, A. Farzeen, H. Prokisch
2022Pediatric Investigation30 citations Open access
Semantic Scholar
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
B. Bölsterli, E. Boltshauser, L. Palmieri, Johannes Spenger +28 more
2022Nutrients29 citations Open access
Semantic Scholar
Genetic landscape of pediatric acute liver failure of indeterminate origin
D. Lenz, L. D. Schlieben, Masaru Shimura, Alyssa Bianzano +91 more
2023Hepatology28 citations Open access
Semantic Scholar
Epigenome-wide association study of whole blood gene expression in Framingham Heart Study participants provides molecular insight into the potential role of CHRNA5 in cigarette smoking-related lung diseases
C. Yao, R. Joehanes, R. Wilson, Toshiko Tanaka +10 more
2021Clinical Epigenetics27 citations Open access
Semantic Scholar
Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus
A. Tin, P. Schlosser, P. Matías-García, C. Thio +99 more
2021Nature Communications26 citations Open access
Semantic Scholar
Delineating MT-ATP6-associated disease
C. Stendel, C. Neuhofer, E. Floride, Yuqing Shi +19 more
2020Neurology: Genetics26 citations Open access
Semantic Scholar
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes
Dmitrii Smirnov, L. Schlieben, F. Peymani, Riccardo Berutti +1 more
2022Human Mutation23 citations Open access
Semantic Scholar
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis.
L. Schlieben, H. Prokisch
2023Handbook of Clinical Neurology22 citations
Semantic Scholar
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation
A. Torraco, A. Nasca, D. Verrigni, Alessandra Pennisi +18 more
2021Human Mutation22 citations Open access
Semantic Scholar
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
D. Lenz, J. Pahl, F. Hauck, S. Alameer +21 more
2021Journal of Clinical Immunology21 citations Open access
Semantic Scholar
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
M. Scala, Saskia B. Wortmann, N. Kaya, M. Stellingwerff +71 more
2022Human Mutation20 citations Open access
Semantic Scholar
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
G. Vogel, Y. Mozer-Glassberg, Y. Landau, L. Schlieben +57 more
2022Genetics in Medicine20 citations Open access
Semantic Scholar
Variants in ATP5F1B are associated with dominantly inherited dystonia
A. Nasca, N. Mencacci, F. Invernizzi, M. Zech +14 more
2023Brain : a journal of neurology19 citations Open access
Semantic Scholar
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
E. Poggio, L. Barazzuol, Andrea Salmaso, Celeste Milani +25 more
2023Genetics in Medicine18 citations Open access
Semantic Scholar
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes
Maike Werning, E. W. Müllner, G. Mlynek, Verena Dobretzberger +6 more
2020Annals of Clinical and Translational Neurology18 citations Open access
Semantic Scholar
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
P. Blackburn, F. Ebstein, Tzung-Chien Hsieh, M. Motta +75 more
2024Annals of Neurology17 citations Open access
Semantic Scholar
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
A. T. van der Ven, J. Johannsen, F. Kortüm, M. Wagner +14 more
2021Clinical Genetics17 citations Open access
Semantic Scholar
Pathogenic variants in MRPL44 causes infantile cardiomyopathy due to a mitochondrial translation defect
Marisa W. Friederich, G. Geddes, S. Wortmann, A. Punnoose +6 more
2021Molecular Genetics and Metabolism17 citations Open access
Semantic Scholar
Blood DNA methylation sites predict death risk in a longitudinal study of 12,300 individuals
E. Colicino, R. Marioni, Cavin K. Ward-Caviness, R. Gondalia +45 more
2020Aging17 citations Open access
Semantic Scholar
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
B. Garavaglia, Sadeq Vallian, L. Romito, Giulia Straccia +13 more
2022Parkinsonism & Related Disorders15 citations
Semantic Scholar
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study
V. Sanin, R. Schmieder, S. Ates, L. Schlieben +17 more
2022Medizinische Genetik14 citations Open access
Semantic Scholar
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency
Hua-Fang Jiang, Ahmad Alahmad, Song Fu, Xiaoling Fu +14 more
2021Journal of Inherited Metabolic Disease14 citations Open access
Semantic Scholar
How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data
L. Schlieben, H. Prokisch, V. Yépez
2021Frontiers in Molecular Biosciences14 citations Open access
Semantic Scholar
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
R. Kaiyrzhanov, Sami E M Mohammed, R. Maroofian, Ralf A. Husain +50 more
2022American Journal of Human Genetics13 citations Open access
Semantic Scholar
Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions
P. Harrer, Audrey Schalk, Masaru Shimura, S. Baer +19 more
2022Annals of Neurology13 citations Open access
Semantic Scholar
Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes
Silvia Vidali, R. Gerlini, K. Thompson, J. Urquhart +40 more
2021EMBO Molecular Medicine13 citations Open access
Semantic Scholar
Protonation-Dependent Sequencing of 5-Formylcytidine in RNA
Courtney N. Link, Supuni Thalalla Gamage, Diamond Gallimore, R. Kopajtich +8 more
2022Biochemistry12 citations Open access
Semantic Scholar
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR
F. Kortüm, Sinja Kieninger, P. Mazzola, S. Kohl +4 more
2021International Journal of Molecular Sciences12 citations Open access
Semantic Scholar

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