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J. Denecke · SciRah

Researcher profile · Semantic Scholar

J. Denecke

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J. Denecke — researcher profile on SciRah

h-index: 41
Works: 143
Citations: 4,786

Most-cited papers

Lessons learned from additional research analyses of unsolved clinical exome cases
M. Eldomery, Z. Coban-Akdemir, T. Harel, J. Rosenfeld +35 more
2017Genome Medicine205 citations Open access
Semantic Scholar
Human Mutation
G. Rice, Sehoon Park, F. Gavazzi, L. Adang +61 more
2020134 citations Open access
Semantic Scholar
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
A. Pechmann, T. Langer, D. Schorling, S. Stein +11 more
2018Journal of Neuromuscular Diseases122 citations Open access
Semantic Scholar
Management Strategies for CLN2 Disease.
Ruth E. Williams, Heather R. Adams, M. Blohm, J. Cohen-Pfeffer +22 more
2017Pediatric Neurology106 citations Open access
Semantic Scholar
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
C. Weiss, A. Ziegler, L. Becker, J. Johannsen +26 more
2021The Lancet Child & Adolescent Health102 citations
Semantic Scholar
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
D. Lessel, C. Gehbauer, N. Bramswig, C. Schluth-Bolard +45 more
2018Brain : a journal of neurology99 citations Open access
Semantic Scholar
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
M. Hempel, K. Cremer, C. Ockeloen, K. Lichtenbelt +17 more
2015American Journal of Human Genetics89 citations Open access
Semantic Scholar
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
S. Syrbe, F. L. Harms, E. Parrini, Martino Montomoli +40 more
2017Brain : a journal of neurology78 citations Open access
Semantic Scholar
Germline AGO2 mutations impair RNA interference and human neurological development
D. Lessel, D. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev +63 more
2020Nature Communications77 citations Open access
Semantic Scholar
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
L. Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione +128 more
2020Science Advances76 citations Open access
Semantic Scholar
Phenotypic and molecular insights into CASK-related disorders in males
U. Moog, T. Bierhals, K. Brand, Jan Bautsch +16 more
2015Orphanet Journal of Rare Diseases75 citations Open access
Semantic Scholar
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus–Merzbacher disease
S. Stumpf, Stefan A Berghoff, Andrea Trevisiol, L. Spieth +16 more
2019Acta Neuropathologica71 citations Open access
Semantic Scholar
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.
F. L. Harms, K. Kloth, A. Bley, J. Denecke +4 more
2018American Journal of Human Genetics71 citations Open access
Semantic Scholar
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
D. Rots, Eric J Chater-Diehl, A. Dingemans, S. Goodman +84 more
2021American Journal of Human Genetics64 citations Open access
Semantic Scholar
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
D. Lessel, Claudia Schob, S. Küry, M. Reijnders +38 more
2017American Journal of Human Genetics64 citations Open access
Semantic Scholar
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
Sima Khazaei, Carol C. L. Chen, A. Andrade, Nisha Kabir +41 more
2023Cell60 citations Open access
Semantic Scholar
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
G. Rice, Sehoon Park, F. Gavazzi, L. Adang +59 more
2020Human Mutation58 citations Open access
Semantic Scholar
Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation
Johannes Boettcher, J. Denecke, C. Barkmann, S. Wiegand-Grefe
2020International Journal of Environmental Research and Public Health54 citations Open access
Semantic Scholar
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
Yousra El Ghaleb, Pauline E. Schneeberger, M. Fernández-Quintero, Stefanie M. Geisler +14 more
2021Brain : a journal of neurology49 citations Open access
Semantic Scholar
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G. Drivas, Dong Li, Divya R. Nair, J. Alaimo +61 more
2020European Journal of Human Genetics47 citations Open access
Semantic Scholar
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
C. Mak, D. Doherty, A. Lin, N. Vegas +78 more
2019Brain : a journal of neurology47 citations Open access
Semantic Scholar
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
A. Pechmann, M. Behrens, Katharina Dörnbrack, A. Tassoni +206 more
2022Orphanet Journal of Rare Diseases40 citations Open access
Semantic Scholar
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
D. Lessel, Claudia Schob, S. Küry, M. Reijnders +38 more
2018American Journal of Human Genetics38 citations Open access
Semantic Scholar
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
A. Bley, J. Denecke, A. Kohlschütter, G. Schön +6 more
2021Orphanet Journal of Rare Diseases34 citations Open access
Semantic Scholar
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
M. Chopra, Meriel E. Mcentagart, J. Clayton-Smith, K. Platzer +78 more
2021American Journal of Human Genetics33 citations Open access
Semantic Scholar
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Berardo Rinaldi, Allan Bayat, L. Zachariassen, Jiahui Sun +83 more
2023Brain : a journal of neurology32 citations Open access
Semantic Scholar
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Ilaria Mannucci, Nghi D. P. Dang, H. Huber, J. Murry +61 more
2020medRxiv29 citations Open access
Semantic Scholar
Exome Sequencing in Children.
E. Mahler, J. Johannsen, K. Tsiakas, K. Kloth +13 more
2019Deutsches Ärzteblatt International28 citations Open access
Semantic Scholar
First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.
K. Kloth, J. Denecke, M. Hempel, J. Johannsen +3 more
2017European Journal of Medical Genetics28 citations
Semantic Scholar
Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life.
Paula Steffens, D. Weiss, Anna Perez, M.J. Appel +14 more
2024European journal of paediatric neurology27 citations Open access
Semantic Scholar
Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design
Johannes Boettcher, B. Filter, J. Denecke, Amra Hot +9 more
2020BMC Family Practice27 citations Open access
Semantic Scholar
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
K. Kloth, B. Lozić, Julia Tagoe, M. Hoffer +8 more
2021Neurogenetics26 citations Open access
Semantic Scholar
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
K. Knapp, D. Jenkins, Rosie Sullivan, F. L. Harms +9 more
2021European Journal of Human Genetics26 citations Open access
Semantic Scholar
Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus
N. Himmelreich, Bianca Dimitrov, Virginia Geiger, M. Zielonka +20 more
2019Human Mutation26 citations Open access
Semantic Scholar
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
T. Scholz, M. Blohm, F. Kortüm, T. Bierhals +14 more
2021Neonatology24 citations
Semantic Scholar
Nine newly identified individuals refine the phenotype associated with MYT1L mutations
Isabelle C Windheuser, J. Becker, K. Cremer, H. Hundertmark +18 more
2020American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
H. Kreienkamp, M. Wagner, H. Weigand, Allyn McConkie-Rossell +15 more
2021Human Genetics22 citations Open access
Semantic Scholar
The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?
J. Johannsen, L. Fuhrmann, B. Grolle, L. Morgenstern +2 more
2020Health and Quality of Life Outcomes21 citations Open access
Semantic Scholar
Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients
C. Schwering, G. Kammler, E. Wibbeler, M. Christner +5 more
2020Neuropediatrics20 citations Open access
Semantic Scholar
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
J. Johannsen, F. Kortüm, G. Rosenberger, K. Bokelmann +3 more
2018Neurogenetics20 citations
Semantic Scholar
Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy.
T. Rolvien, S. Butscheidt, A. Jeschke, A. Neu +9 more
2017Bone20 citations
Semantic Scholar
Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy
J. Zang, J. Johannsen, J. Denecke, D. Weiss +6 more
2022European Archives of Oto-Rhino-Laryngology19 citations Open access
Semantic Scholar
Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen
J. Johannsen, D. Weiss, A. Daubmann, Leonie Schmitz +1 more
2021Journal of Cellular and Molecular Medicine19 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
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
Kathrine M. Johannesen, D. Mitter, R. Janowski, C. Roth +34 more
2019Neurology: Genetics16 citations Open access
Semantic Scholar
Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis
M. Nikolaus, Philip Rausch, K. Rostásy, A. Bertolini +18 more
2023Neurology: Neuroimmunology & Neuroinflammation15 citations Open access
Semantic Scholar
Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings
S. Wiegand-Grefe, A. Liedtke, L. Morgenstern, Antonia Hoff +8 more
2022BMC Pediatrics14 citations Open access
Semantic Scholar
A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia.
S. Tunc, J. Denecke, L. Olschewski, Tobias Bäumer +3 more
2019Journal of Neurological Sciences14 citations
Semantic Scholar
Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease
J. Johannsen, M. Nickel, A. Schulz, J. Denecke
2016Neuropediatrics13 citations
Semantic Scholar
Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia
Claudia Schob, M. Hempel, D. Brožková, Hua-Fang Jiang +13 more
2021Annals of Neurology12 citations Open access
Semantic Scholar

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