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Eva Wohlleber

Observed names: E. Wohlleber, Wohlleber, E, Wohlleber, E., Wohlleber, Eva
Institution: Synlab (Germany)
ORCID: 0009-0009-7513-7275
Observed ORCID: 0009-0009-7513-7275
OpenAlex ID: A5048537875
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
2012 · Anita Rauch, Dagmar Wieczorek, et al. · The Lancet · 1,043
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
2012 · Juliane Hoyer, Arif B. Ekici, et al. · The American Journal of Human Genetics · 263
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Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
2010 · Markus Zweier, Anne Gregor, et al. · Human Mutation · 180
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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
2010 · Denise Horn, Johannes Kapeller, et al. · Human Mutation · 140
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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
2014 · Alma Kuechler, Alexander M Zink, et al. · European Journal of Human Genetics · 136
Phenotypic spectrum associated with CASK loss-of-function mutations
2011 · Ute Moog, Kerstin Kutsche, et al. · Journal of Medical Genetics · 135
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
2011 · Anne Gregor, Beate Albrecht, et al. · BMC Medical Genetics · 121
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A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
2009 · Hartmut Engels, Eva Wohlleber, et al. · European Journal of Human Genetics · 109
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
2015 · Maja Hempel, Kirsten Cremer, et al. · The American Journal of Human Genetics · 99
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A phenotype map for 14q32.3 terminal deletions
2012 · Hartmut Engels, Herdit M. Schüler, et al. · American Journal of Medical Genetics Part A · 48
5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability
2012 · W. Kleffmann, A.M. Zink, et al. · Molecular Syndromology · 47
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Familial Translocation t(6;20)(p21;p13) Resulting in Partial Trisomy 6p and Partial Monosomy 20p: Report of a New Case and Review of the Literature
2012 · A.L. Berner, S. Bağci, et al. · Cytogenetic and Genome Research · 39
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
2016 · Nicola Dennert, Hartmut Engels, et al. · American Journal of Medical Genetics Part A · 27
Nine newly identified individuals refine the phenotype associated with MYT1L mutations
2020 · Isabelle C. Windheuser, Jessica Becker, et al. · American Journal of Medical Genetics Part A · 24
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Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
2015 · Julia K. Ehret, Hartmut Engels, et al. · Molecular Cytogenetics · 18
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Recurrent null mutation in SPG20 leads to Troyer syndrome
2015 · Hasan Tawamie, Eva Wohlleber, et al. · Molecular and Cellular Probes · 18
Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation
2010 · Eva Wohlleber, Maria Kirchhoff, et al. · European Journal of Medical Genetics · 14
Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies
2014 · A.M. Zink, E. Wohlleber, et al. · Molecular Syndromology · 7
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Genetische Diagnostik im klinischen Alltag der Kinder- und Jugendpsychiatrie – Indikationen, Rahmenbedingungen, Hürden und Lösungsvorschläge
2023 · Franziska Degenhardt, Eva Wohlleber, et al. · Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie · 4
RE(ACT)2014Rare Diseases. 2nd International Congress on Research of Rare and Orphan Diseases. 5th to 8th March 2014, Gehry Building, Novartis Campus, Basel: Abstracts
2014 · B.D. Solomon, F. Hadziselimovic, et al. · Molecular Syndromology · 3
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Genetische Diagnostik bei Kindern und Jugendlichen mit psychischen Störungen
2025 · Franziska Degenhardt, Eva Wohlleber, et al. · Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie · 1
Molekulargenetische Abklärung von Patienten mit ADTKD
2025 · S. Hurst, A. Wohlleber, et al. · Nieren- und Hochdruckkrankheiten
Nine newly identified individuals refine the phenotype associated with MYT1L mutations
2020 · Isabelle C. Windheuser, Jessica Becker, et al. · Newcastle University ePrints (Newcastle Univesity)
Additional file 1: Table S1. of Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
2015 · Ehret, Julia, Engels, Hartmut, et al. · Figshare
Front & Back Matter
2014 · B.D. Solomon, F. Hadziselimovic, et al. · Molecular Syndromology
Works count: 37
Citation count: 2,476
H-index: 16
I10-index: 17
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