Nina Bögershausen

Universitätsmedizin Göttingen — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index1.5kcitations26works2.52yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(9), Genomics and Rare Diseases(7), Genetics and Neurodevelopmental Disorders(5), Chromatin Remodeling and Cancer(4), Epigenetics and DNA Methylation(3)

Publications24 total

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis
JCI Insight·2025· 2 citedOpen Access
<i>WARS1</i> and <i>SARS1</i> : Two tRNA synthetases implicated in autosomal recessive microcephaly
Human Mutation·2022· 15 citedOpen Access
Genomic basis of syndromic short stature in an Algerian patient cohort
American Journal of Medical Genetics Part A·2021
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo <scp><i>MEIS2</i></scp> mutation: A clinical longitudinal study
American Journal of Medical Genetics Part A·2021· 20 citedOpen Access
Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
Frontiers in Molecular Neuroscience·2018· 143 citedOpen Access
Floating-Harbor syndrome: Presentation of the first Romanian patient with a <i>SRCAP</i> mutation and review of the literature
Balkan Journal of Medical Genetics·2018· 6 citedOpen Access
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity
American Journal of Medical Genetics Part A·2016· 22 cited
Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2
Human Mutation·2016· 183 citedOpen Access
Cenani-Lenz Syndrome
Oxford University Press eBooks·2016
Update on the <i>ACTG1</i>‐associated Baraitser–Winter cerebrofrontofacial syndrome
American Journal of Medical Genetics Part A·2016· 39 cited
Specific mosaic <i><scp>KRAS</scp></i> mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
Clinical Genetics·2016· 70 cited
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous <i>KATNB1</i> mutation
American Journal of Medical Genetics Part A·2015· 15 cited
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
Journal of Clinical Investigation·2015· 86 citedOpen Access
Mutations in <i> <scp>CDK</scp> 5 <scp>RAP</scp> 2 </i> cause Seckel syndrome
Molecular Genetics & Genomic Medicine·2015· 63 citedOpen Access
CHARGE and Kabuki syndromes: a phenotypic and molecular link
Human Molecular Genetics·2014· 68 citedOpen Access
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Human Molecular Genetics·2013· 227 citedOpen Access
Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability
The American Journal of Human Genetics·2013· 118 citedOpen Access
Severe Cenani–Lenz syndrome caused by loss of LRP4 function
American Journal of Medical Genetics Part A·2013· 31 cited
Response to Diaz
Clinical Genetics·2013
Unmasking Kabuki syndrome
Clinical Genetics·2012· 164 cited
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Frequent Co-authors

Bernd Wollnik(23), Janine Altmüller(10), Peter Nürnberg(10), Yun Li(9), Gökhan Yigit(9), Dagmar Wieczorek(8), Hülya Kayserili(7), Esther Pohl(5), Esther Milz(5), Filippo Beleggia(4), Yasemin Alanay(4), Koray Boduroğlu(4), Nursel Elçioğlu(4), Pelin Özlem Şimşek‐Kiper(4), Stanislas Lyonnet(4), Gudrun Nürnberg(4), Beate Albrecht(3), Alma Kuechler(3), Sigrid Tinschert(3), Michaela Thoenes(3)