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List of works by Deborah J Morris-Rosendahl

A dimensional impulsive-aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: a pilot study in well-characterized impulsive inpatients.

scientific article

A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia

scientific article

A novel allelic variant of the human serotonin transporter gene regulatory polymorphism.

scientific article published in January 1997

Analysis of the CAG repeats in the SCA1 and B37 genes in schizophrenic and bipolar I disorder patients: tentative association between B37 and schizophrenia

scientific article published on 01 May 1997

Association between hSKCa3 and schizophrenia not confirmed by transmission disequilibrium test in 193 offspring/parents trios

scientific article published on 01 May 1999

Autosomal Recessive Primary Microcephaly (MCPH): An Update

scientific article published on 11 April 2017

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

scientific article

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

scientific article published on 25 January 2018

Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.

scientific article published on 14 May 2013

Dilatative uropathy as a manifestation of neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin-II gene.

scientific article published on 24 October 2013

Filamin A mutation is one cause of FG syndrome.

scientific article published in August 2007

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype ⬇️

scientific article published on October 18, 2010

Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder? ⬇️

scientific article published on January 1, 1998

Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr).

scientific article

Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary ⬇️

scientific article published on March 8, 2012

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.

scientific article published in July 2007

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

scientific article

Microdeletion 5q14.3 and anomalies of brain development

scientific article published on 04 July 2013

Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

scientific article published on July 2015

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

scientific article published on May 2013

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

scientific article

No association between the tyrosine hydroxylase microsatellite marker HUMTH01 and schizophrenia or bipolar I disorder ⬇️

scientific article published on January 1, 1998

Serotonin transporter (5-HTT) gene polymorphisms are not associated with susceptibility to mood disorders

scientific article published on 01 February 1998

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

scientific article published on 19 May 2014

Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations

scientific article published on 28 January 2014

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.

scientific article published in January 2003

Stable methylation patterns in interspecific antelope hybrids and the characterization and localization of a satellite fraction in the Alcelaphini and Hippotragini

article

The human genome: chromosome 22q11 deletion syndrome

scientific article published on 01 April 2002

The human genome: detecting chromosomal deletions: Angelman and Prader-Willi syndromes

scientific article published on 01 March 2002

The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia.

scientific article published in August 1998

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency

scientific article published on 23 January 2016

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.

scientific article

Warburg Micro syndrome ⬇️

scientific article published on January 1, 2012

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).

scientific article published on 04 June 2015

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