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Barbara Oehl‐Jaschkowitz

Observed names: B Oehl-Jaschkowitz, B. Oehl-Jaschkowitz, B. Oehl‐Jaschkowitz, Barbara Oehl-Jaschkowitz, Oehl-Jaschkowitz Barbara, Oehl-Jaschkowitz, B., Oehl-Jaschkowitz, Barbara
OpenAlex ID: A5014532360
Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly
2010 · Maila Giannandrea, Veronica Bianchi, et al. · The American Journal of Human Genetics · 249
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Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
2018 · Matthias Begemann, Faisal I Rezwan, et al. · Journal of Medical Genetics · 172
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Next-generation sequencing in X-linked intellectual disability
2015 · Andreas Tzschach, Ute Grasshoff, et al. · European Journal of Human Genetics · 154
Phenotypic spectrum associated with CASK loss-of-function mutations
2011 · Ute Moog, Kerstin Kutsche, et al. · Journal of Medical Genetics · 138
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
2018 · Pleuntje J. van der Sluijs, Sandra Jansen, et al. · Genetics in Medicine · 137
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47 patients with FLNA associated periventricular nodular heterotopia
2015 · Max Lange, Burkhard Kasper, et al. · Orphanet Journal of Rare Diseases · 107
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Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease
2007 · Ute Hehr, Goekhan Uyanik, et al. · Neurogenetics · 65
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
2020 · Andreea Manole, Stephanie Efthymiou, et al. · The American Journal of Human Genetics · 64
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Noncoding copy-number variations are associated with congenital limb malformation
2017 · Ricarda Flöttmann, Bjørt K. Kragesteen, et al. · Genetics in Medicine · 56
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Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
2014 · Naeimeh Tayebi, Aleksander Jamsheer, et al. · Orphanet Journal of Rare Diseases · 46
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Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
2017 · Romina Romaniello, Filippo Arrigoni, et al. · European Radiology · 45
Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features
2012 · Sabrina Spengler, Matthias Begemann, et al. · The Journal of Pediatrics · 41
Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel–Giedion syndrome
2006 · Rudi Beschorner, Manfred Wehrmann, et al. · Acta Neuropathologica · 38
The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders
2018 · A. Charzewska, R. Maiwald, et al. · Clinical Genetics · 29
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The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?
2017 · Thomas Eggermann, Barbara Oehl‐Jaschkowitz, et al. · Molecular Genetics & Genomic Medicine · 27
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Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals
2023 · Ariane Schmetz, Hermann-Josef Lüdecke, et al. · Human Genetics · 26
Behavioral and psychological features in girls and women with triple‐X syndrome
2018 · Petra Freilinger, David Kliegel, et al. · American Journal of Medical Genetics Part A · 26
DNA methylation studies on imprinted loci in a male monozygotic twin pair discordant for Beckwith-Wiedemann syndrome
2010 · S Tierling, NY Souren, et al. · Clinical Genetics · 26
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
2013 · Barbara Oehl‐Jaschkowitz, Olivier M. Vanakker, et al. · American Journal of Medical Genetics Part A · 24
Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome
2013 · S. Spengler, B. Oehl-Jaschkowitz, et al. · Molecular Syndromology · 17
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Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins
2008 · Bettina Blaumeiser, Barbara Oehl‐Jaschkowitz, et al. · American Journal of Medical Genetics Part A · 16
Congenital CLN disease in two siblings
2015 · Sascha Meyer, Umut Yilmaz, et al. · Wiener Medizinische Wochenschrift · 15
Christianson syndrome in a patient with an interstitial Xq26.3 deletion
2011 · Andreas Tzschach, Reinhard Ullmann, et al. · American Journal of Medical Genetics Part A · 14
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
2024 · Emily Banks, Vincent Francis, et al. · Nature Communications · 13
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A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children
2023 · Giovanna Scorrano, Gianluca D'Onofrio, et al. · Pediatric Neurology · 13
Works count: 46
Citation count: 1,598
H-index: 19
I10-index: 26
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