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U. Hehr · SciRah

Researcher profile · Semantic Scholar

U. Hehr

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U. Hehr — researcher profile on SciRah

h-index: 42
Works: 141
Citations: 5,451

Most-cited papers

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
J. Dauwerse, Jill Dixon, S. Seland, C. Ruivenkamp +16 more
2011Nature Genetics347 citations
Semantic Scholar
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
A. Bohring, T. Stamm, C. Spaich, C. Haase +7 more
2009American Journal of Human Genetics235 citations Open access
Semantic Scholar
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Matthew A. Lines, Li-Jia Huang, J. Schwartzentruber, Stuart Douglas +23 more
2012American Journal of Human Genetics212 citations Open access
Semantic Scholar
Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19
B. Krämer, Rainer Knoll, L. Bonaguro, Michael ToVinh +156 more
2021Immunity206 citations Open access
Semantic Scholar
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
T. Cushion, W. Dobyns, J. Mullins, N. Stoodley +10 more
2013Brain : a journal of neurology149 citations
Semantic Scholar
Prevalence and non-random distribution of exonic mutations in Interferon Regulatory Factor 6 (IRF6) in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
R. F. D. de Lima, S. A. Hoper, M. Ghassibé, M. Cooper +18 more
2009Genetics in Medicine133 citations Open access
Semantic Scholar
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons
Steven Havlicek, Z. Kohl, H. Mishra, I. Prots +15 more
2013Human Molecular Genetics123 citations Open access
Semantic Scholar
International consensus recommendations on the diagnostic work-up for malformations of cortical development
R. Oegema, T. S. Barakat, M. Wilke, K. Stouffs +23 more
2020Nature Reviews Neurology114 citations Open access
Semantic Scholar
A second update on mapping the human genetic architecture of COVID-19
Masahiro Shea J. Mattia Christine Benjamin M. Mark Andrea G Kanai Andrews Cordioli Stevens Neale Daly Ganna Pa, Masahiro Shea J. Mattia Christine Benjamin M. Mark Andrea Kanai Andrews Cordioli Stevens Neale Daly Ganna, Masahiro Kanai, S. Andrews +496 more
2022Nature108 citations Open access
Semantic Scholar
47 patients with FLNA associated periventricular nodular heterotopia
M. Lange, B. Kasper, A. Bohring, F. Rutsch +20 more
2015Orphanet Journal of Rare Diseases94 citations Open access
Semantic Scholar
In-Depth Characterisation of Retinal Pigment Epithelium (RPE) Cells Derived from Human Induced Pluripotent Stem Cells (hiPSC)
Caroline Brandl, S. Zimmermann, V. Milenkovic, Sibylle M. G. Rosendahl +7 more
2014Neuromolecular medicine94 citations Open access
Semantic Scholar
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum
A. Ekici, D. Hilfinger, M. Jatzwauk, C. Thiel +10 more
2010Molecular Syndromology93 citations Open access
Semantic Scholar
The Mutational Spectrum of Holoprosencephaly-Associated Changes within the SHH Gene in Humans Predicts Loss-of-Function Through Either Key Structural Alterations of the Ligand or Its Altered Synthesis
E. Roessler, K. El-Jaick, C. Dubourg, J. I. Vélez +13 more
2009Human Mutation91 citations Open access
Semantic Scholar
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
B. Solomon, F. Lacbawan, S. Mercier, N. Clegg +37 more
2009Journal of Medical Genetics82 citations Open access
Semantic Scholar
Fertility Preservation for Patients with Malignant Disease. Guideline of the DGGG, DGU and DGRM (S2k-Level, AWMF Registry No. 015/082, November 2017) – Recommendations and Statements for Girls and Women
R. Dittrich, S. Kliesch, A. Schüring, M. Balcerek +53 more
2018Geburtshilfe und Frauenheilkunde79 citations Open access
Semantic Scholar
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
K. Weaver, Kristin E. Noack Watt, R. Hufnagel, Joaquin Navajas Acedo +11 more
2015American Journal of Human Genetics78 citations Open access
Semantic Scholar
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
J. Czeschik, C. Voigt, Y. Alanay, B. Albrecht +18 more
2013Human Genetics77 citations
Semantic Scholar
Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy
T. Geis, K. Marquard, T. Rödl, C. Reihle +5 more
2013Neurogenetics75 citations
Semantic Scholar
Detailed stratified GWAS analysis for severe COVID-19 in four European populations
F. Degenhardt, D. Ellinghaus, S. Juzėnas, J. Lerga-Jaso +325 more
2022Human Molecular Genetics73 citations Open access
Semantic Scholar
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
B. Solomon, K. Bear, Adrian Wyllie, Amelia A. Keaton +41 more
2012Journal of Medical Genetics72 citations Open access
Semantic Scholar
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
D. Wieczorek, W. Newman, T. Wieland, Tea Berulava +38 more
2014American Journal of Human Genetics67 citations Open access
Semantic Scholar
Generation of Highly Purified Human Cardiomyocytes from Peripheral Blood Mononuclear Cell-Derived Induced Pluripotent Stem Cells
M. Fuerstenau-Sharp, M. Zimmermann, Klaus J. Stark, N. Jentsch +8 more
2015PLoS ONE60 citations Open access
Semantic Scholar
The Full Spectrum of Holoprosencephaly-Associated Mutations within the ZIC2 Gene in Humans Predicts Loss-of-Function as the Predominant Disease Mechanism
E. Roessler, F. Lacbawan, C. Dubourg, A. Paulussen +9 more
2009Human Mutation60 citations Open access
Semantic Scholar
Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI.
P. Dammann, K. Wrede, Yuan Zhu, T. Matsushige +8 more
2017Journal of Neurosurgery57 citations Open access
Semantic Scholar
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly
U. Hehr, D. Pineda-Alvarez, G. Uyanik, P. Hu +10 more
2010Human Genetics57 citations Open access
Semantic Scholar
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation
Ulf Edener, Janine Wöllner, U. Hehr, Z. Kohl +6 more
2010European Journal of Human Genetics56 citations Open access
Semantic Scholar
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
C. Voigt, A. Mégarbané, K. Neveling, J. Czeschik +20 more
2013Orphanet Journal of Rare Diseases53 citations Open access
Semantic Scholar
An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons
F. Krach, Judith Stemick, Tom Boerstler, Alexander Weiss +9 more
2022Nature Communications52 citations Open access
Semantic Scholar
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
A. Kuechler, J. Czeschik, E. Graf, U. Grasshoff +18 more
2017European Journal of Human Genetics52 citations Open access
Semantic Scholar
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.
S. M. Herbst, Christiane R. Proepper, T. Geis, I. Borggraefe +19 more
2016Brain & development (Tokyo. 1979)38 citations
Semantic Scholar
Familial cardiac valvulopathy due to filamin A mutation
J. A. Bernstein, D. Bernstein, U. Hehr, L. Hudgins
2011American Journal of Medical Genetics. Part A38 citations
Semantic Scholar
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
R. Romaniello, F. Arrigoni, E. Panzeri, A. Poretti +21 more
2017European Radiology35 citations
Semantic Scholar
Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies
M. Lommel, S. Çırak, T. Willer, R. Hermann +7 more
2010Neurology35 citations Open access
Semantic Scholar
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome
D. Wieczorek, B. Gener, M. González, S. Seland +7 more
2009American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.
Katharina Sell, K. Storch, G. Hahn, Ae Lee-Kirsch Min +6 more
2016Brain & development (Tokyo. 1979)33 citations Open access
Semantic Scholar
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
U. Yiş, G. Uyanik, P. Heck, M. Smitka +14 more
2011Neuromuscular Disorders33 citations
Semantic Scholar
Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients
K. Girisha, Abdul Mueed Bidchol, L. Graul-Neumann, Ashish Gupta +6 more
2016BMC Medical Genetics30 citations Open access
Semantic Scholar
New susceptibility loci for severe COVID-19 by detailed GWAS analysis in European populations
F. Degenhardt, D. Ellinghaus, S. Juzėnas, J. Lerga-Jaso +286 more
2021medRxiv28 citations Open access
Semantic Scholar
Defining the phenotypical spectrum associated with variants in TUBB2A
Stefanie Brock, T. Vanderhasselt, Sietske Vermaning, K. Keymolen +21 more
2020Journal of Medical Genetics26 citations Open access
Semantic Scholar
Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature
J. Schlump, A. Stein, U. Hehr, T. Karen +8 more
2012European Journal of Pediatrics26 citations Open access
Semantic Scholar
DCX-Related Disorders
U. Hehr, G. Uyanik, L. Aigner, S. Couillard-Després +1 more
201126 citations
Semantic Scholar
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6
A. Busche, U. Hehr, P. Sieg, G. Gillessen-kaesbach
2016American Journal of Medical Genetics. Part A25 citations
Semantic Scholar
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization
P. Bauer, B. Winner, R. Schüle, C. Bauer +9 more
2009Neurogenetics25 citations
Semantic Scholar
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
J. Czeschik, U. Hehr, B. Hartmann, H. Lüdecke +3 more
2013European Journal of Medical Genetics24 citations
Semantic Scholar
First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
Jasmin Beygo, Karin Buiting, Saskia Seland, H. Lüdecke +5 more
2012Molecular Syndromology24 citations Open access
Semantic Scholar
Andermann Syndrome can be a Phenocopy of Hereditary Motor and Sensory Neuropathy – Report of a Discordant Sibship with a Compound Heterozygous Mutation of the KCC3 Gene
S. Rudnik-Schöneborn, U. Hehr, T. von Kalle, A. Bornemann +2 more
2009Neuropediatrics24 citations
Semantic Scholar
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
T. Geis, T. Rödl, H. Topaloğlu, Burcu Balci-Hayta +13 more
2019Orphanet Journal of Rare Diseases22 citations Open access
Semantic Scholar
Varying Patterns of CNS Imaging in Influenza A Encephalopathy in Childhood
M. Dadak, R. Pul, H. Lanfermann, H. Hartmann +4 more
2019Clinical Neuroradiology19 citations
Semantic Scholar
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles
Sven Günther, Ewelina Elert-Dobkowska, A. Soehn, Sophie Hinreiner +9 more
2016Human Mutation18 citations Open access
Semantic Scholar
Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression
M. Lubnow, B. Schmidt, M. Fleck, B. Salzberger +29 more
2021International Journal of Infectious Diseases17 citations Open access
Semantic Scholar

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