List of works - Gabriele Gillessen-Kaesbach

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

scientific article

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review

scientific article published on 21 March 2011

A family with autosomal dominant oculo-auriculo-vertebral spectrum

scientific article

A mutation screen in patients with Kabuki syndrome

scientific article

A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome

scientific article published on 7 October 2015

Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency

scientific article published on August 2012

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis ⬇️

scientific article published on February 2, 2011

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

scientific article

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

scientific article

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

scientific article published on 19 January 2012

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

scientific article

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

scientific article published on March 2014

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

scientific article published on 11 September 2009

Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation

scientific article

Frequency and characterization of DNA methylation defects in children born SGA.

scientific article published on 12 December 2012

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome

scientific article

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

scientific journal article

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

scientific article

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

scientific article

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

scientific article

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

scientific article

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

scientific article

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

scientific article

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

scientific article

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

scientific article

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

scientific article published on 26 January 2016

Identification of mutations in CUL7 in 3-M syndrome

scientific article

Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces

scientific article

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

scientific article

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

scientific article (publication date: July 2011)

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

scientific article

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

scientific article published on 25 March 2009

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features ⬇️

scientific article published on October 27, 2003

Missense exchanges in the TTBK2 gene mutated in SCA11.

scientific article

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

scientific article

Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature

scientific article published on July 2010

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

scientific article

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

scientific article

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

scientific article

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

scientific journal article

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

scientific article (publication date: 4 September 2014)

Nicolaides-Baraitser syndrome: Delineation of the phenotype

scientific article

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

scientific article published on 13 January 2017

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.

scientific article

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

scientific article

Plasmid-Based Generation of Induced Neural Stem Cells from Adult Human Fibroblasts

scientific article

Polar body biopsy in the diagnosis of monogenic diseases: the birth of three healthy children

scientific article published on 14 August 2009

Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases

scientific article

RAD21 mutations cause a human cohesinopathy

scientific article

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

scientific article

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

scientific article

Syndrome identification based on 2D analysis software

scientific article

The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications

scientific article

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome

scientific article published on 6 November 2015

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).

scientific article

List of works by Gabriele Gillessen-Kaesbach

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review

A family with autosomal dominant oculo-auriculo-vertebral spectrum

A mutation screen in patients with Kabuki syndrome

A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome

Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis ⬇️

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation

Frequency and characterization of DNA methylation defects in children born SGA.

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

Identification of mutations in CUL7 in 3-M syndrome

Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features ⬇️

Missense exchanges in the TTBK2 gene mutated in SCA11.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

Nicolaides-Baraitser syndrome: Delineation of the phenotype

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

Plasmid-Based Generation of Induced Neural Stem Cells from Adult Human Fibroblasts

Polar body biopsy in the diagnosis of monogenic diseases: the birth of three healthy children

Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases

RAD21 mutations cause a human cohesinopathy

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

Syndrome identification based on 2D analysis software

The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).