List of works - Reinhard Ullmann

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

scientific article

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

scientific article

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

scientific article

CGHPRO -- a comprehensive data analysis tool for array CGH.

scientific article

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

scientific article published in February 2007

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay

scientific article published in January 2007

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

scientific article

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

scientific article

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

scientific article

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

scientific article

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

scientific article

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

scientific article published on 6 October 2015

Mapping translocation breakpoints by next-generation sequencing

scientific article published on 7 March 2008

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

scientific article

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

scientific article published on 10 April 2008

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

scientific article

List of works by Reinhard Ullmann

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

CGHPRO -- a comprehensive data analysis tool for array CGH.

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Mapping translocation breakpoints by next-generation sequencing

Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome