List of works - Almuth Caliebe

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

scientific article published on 18 April 2019

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

scientific article published in August 2013

A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1 ⬇️

scientific article published on April 29, 2011

A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation ⬇️

scientific article published on October 1, 2010

A familial disorder of altered DNA-methylation

scientific article published on 10 April 2014

CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort

scientific article published on 9 October 2017

CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.

scientific article published on 25 July 2012

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

scientific article published on 26 June 2019

Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome

scientific article published on 06 January 2012

Clinical and molecular genetic features of ARC syndrome

scientific article published on 01 August 2006

Congenital diaphragmatic hernia, etiology and management, a 10-year analysis of a single center

scientific article published on 07 August 2007

DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs.

scientific article published on 11 June 2019

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.

scientific article published on September 2010

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

scientific article

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

scientific article published on 13 June 2013

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

scientific article published on 9 April 2010

Gene symbol: JAG1. Disease: tetralogy of Fallot

scientific article published on 01 July 2006

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

article

Genome sequencing in families with congenital limb malformations

scientific article published on 22 June 2021

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

scientific article published on 17 September 2012

Hematopoietic stem cell involvement in BCR-ABL1-positive ALL as potential mechanism of resistance to blinatumomab therapy.

scientific article

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus

scientific article published on 01 December 2008

Microdeletion 5q14.3 and anomalies of brain development

scientific article published on 04 July 2013

Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient ⬇️

scientific article published on August 1, 1997

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

scientific article published on 01 August 2003

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

scientific article

Partial hydatidiform mole with extensive angiomatoid vessel configuration in a first trimester miscarriage.

scientific article published in May 2015

Preimplantation genetic diagnosis (polar body biopsy) and trisomy 21

scientific article published on 26 January 2010

Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism

scientific article published on 01 October 2019

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

scientific article published on 10 February 2016

Structural genomic variation in childhood epilepsies with complex phenotypes

scientific article

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

scientific article published on 24 September 2018

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

scientific article

The Co-Occurrence of Tricho-Rhino-Phalangeal Syndrome and Early-Onset Levodopa-Sensitive Parkinsonism

scientific article published on 24 September 2014

List of works by Almuth Caliebe

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1 ⬇️

A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation ⬇️

A familial disorder of altered DNA-methylation

CDH1 mutation screen in a BRCA1/2-negative familial breast-/ovarian cancer cohort

CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome

Clinical and molecular genetic features of ARC syndrome

Congenital diaphragmatic hernia, etiology and management, a 10-year analysis of a single center

DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs.

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

Gene symbol: JAG1. Disease: tetralogy of Fallot

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

Genome sequencing in families with congenital limb malformations

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Hematopoietic stem cell involvement in BCR-ABL1-positive ALL as potential mechanism of resistance to blinatumomab therapy.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus

Microdeletion 5q14.3 and anomalies of brain development

Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient ⬇️

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).

Partial hydatidiform mole with extensive angiomatoid vessel configuration in a first trimester miscarriage.

Preimplantation genetic diagnosis (polar body biopsy) and trisomy 21

Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Structural genomic variation in childhood epilepsies with complex phenotypes

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

The Co-Occurrence of Tricho-Rhino-Phalangeal Syndrome and Early-Onset Levodopa-Sensitive Parkinsonism