List of works - Lilian Bomme Ousager

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

scientific article published on 26 December 2015

Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia

scientific article published on 9 October 2012

Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment

Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).

scientific article

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

scientific article

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

scientific article published on 15 October 2020

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

scientific article published in December 2017

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

scientific article published on 26 July 2018

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

scientific article

Disease pattern in Danish patients with Peutz-Jeghers syndrome.

scientific article

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

scientific article published on 06 June 2012

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.

scientific article

Early-onset epileptic encephalopathy caused by CDKL5 mutation ⬇️

scientific article published in December 2014

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

scientific article published on 26 August 2019

Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia

scientific article

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

scientific article published on 13 October 2016

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps

scientific article published on 5 May 2016

Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia

scientific article published on 16 April 2015

Hamartomatous polyposis syndromes: a review

scientific article

Heart defects and other features of the 22q11 distal deletion syndrome

scientific article

Histiocytic disorders of the gastrointestinal tract.

scientific article published on 11 October 2012

JP-HHT phenotype in Danish patients with SMAD4 mutations.

scientific article published on 17 November 2015

Juvenile Polyps in Denmark From 1995 to 2014.

scientific article published on August 2016

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia

scientific article

Mutation update for the PORCN gene.

scientific article published on 21 June 2011

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

scientific article

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.

scientific article published on 3 October 2013

Noonan syndrome can be diagnosed clinically and through molecular genetic analyses ⬇️

scientific article

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm

scientific article

On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO.

scientific article

Patients with basal cell naevus syndrome should be offered an early multidisciplinary follow-up and treatment ⬇️

scientific article published in July 2015

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

scientific article published on 16 March 2015

Pigmentary mosaicism: a review of original literature and recommendations for future handling.

scientific article

Research participants in NGS studies want to know about incidental findings

scientific article

Skin manifestations in a case of trisomy 16 mosaicism.

scientific article published in January 2006

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

scientific article published on 27 April 2021

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

scientific article

Two siblings with microcephaly, growth retardation, cataract, hearing loss, and unusual appearance

scientific article published on July 2009

Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition

scientific article published on December 2013

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

scientific journal article

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

scientific article published on 6 May 2013

[Dravet syndrome diagnostics]

scientific article published on 01 February 2010

[Dravet syndrome]

scientific article published on 01 February 2010

[Genetic causes of infantile spasms--a systematic review]

scientific article published on 01 April 2012

[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects] ⬇️

scientific article published on 01 February 2014

[Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome in a patient a with SMAD4 mutation] ⬇️

scientific article published on 01 October 2014

[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer] ⬇️

scientific article published on 01 October 2014

[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer].

scientific article

[Selenoprotein-related muscular dystrophy]

scientific article published on 01 November 2011

List of works by Lilian Bomme Ousager

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia

Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment

Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

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

Disease pattern in Danish patients with Peutz-Jeghers syndrome.

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.

Early-onset epileptic encephalopathy caused by CDKL5 mutation ⬇️

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps

Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia

Hamartomatous polyposis syndromes: a review

Heart defects and other features of the 22q11 distal deletion syndrome

Histiocytic disorders of the gastrointestinal tract.

JP-HHT phenotype in Danish patients with SMAD4 mutations.

Juvenile Polyps in Denmark From 1995 to 2014.

Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia

Mutation update for the PORCN gene.

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.

Noonan syndrome can be diagnosed clinically and through molecular genetic analyses ⬇️

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm

On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO.

Patients with basal cell naevus syndrome should be offered an early multidisciplinary follow-up and treatment ⬇️

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Pigmentary mosaicism: a review of original literature and recommendations for future handling.

Research participants in NGS studies want to know about incidental findings

Skin manifestations in a case of trisomy 16 mosaicism.

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

Two siblings with microcephaly, growth retardation, cataract, hearing loss, and unusual appearance

Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

[Dravet syndrome diagnostics]

[Dravet syndrome]

[Genetic causes of infantile spasms--a systematic review]

[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects] ⬇️

[Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome in a patient a with SMAD4 mutation] ⬇️

[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer] ⬇️

[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer].

[Selenoprotein-related muscular dystrophy]