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Publications by Janine Altmüller

Mutations in DONSON Disrupt Replication Fork Stability and Cause Microcephalic Dwarfism

Nature Genetics

English

Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity

Molecular Biology

English

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

American Journal of Human Genetics

English

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

The Mutational Landscape of Burkitt-Like Lymphoma With 11q Aberration Is Distinct From That of Burkitt Lymphoma

English

Germline Loss-Of-Function Variants in the BARD1 Gene Are Associated With Early-Onset Familial Breast Cancer but Not Ovarian Cancer

Breast Cancer Research

Cancer Research

English

Late Diagnosis of a Truncating WISP3 Mutation Results in a Severe Phenotype of Progressive Pseudorheumatoid Dysplasia.

Cold Spring Harbor molecular case studies

Molecular Medicine

English

RNA-Seq Analysis of Human Trigeminal and Dorsal Root Ganglia With a Focus on Chemoreceptors

Multidisciplinary

English