List of works - Elise Schaefer

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.

scientific article published on 28 May 2019

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

scientific article published on 6 July 2017

Anatomical and functional abnormalities on MRI in kabuki syndrome.

scientific article

Arterial tortuosity syndrome: 40 new families and literature review

scientific article

Authors' response to the letter to the editor "Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation"

scientific article published on 14 May 2014

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

scientific article published on 6 March 2014

Autosomal recessive primary microcephaly due to ASPM mutations: An update

scientific article

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

scientific article published on 01 March 2019

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome ⬇️

scientific article published on August 5, 2013

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

scientific article published on 08 September 2016

Correction: Arterial tortuosity syndrome: 40 new families and literature review

scientific article published on 01 August 2019

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalopathy

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

scientific article published on 19 February 2018

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

scientific article

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

scientific article published on 17 April 2012

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

scientific article published on 11 September 2013

Finger creases lend a hand in Kabuki syndrome.

scientific article

Highly active spore biocatalyst by self-assembly of co-expressed anchoring scaffoldin and multimeric enzyme

scientific article published on 13 November 2017

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

scientific article published on 17 August 2017

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

article

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

scientific article published on 14 January 2016

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

scientific article published on 15 July 2015

MSX2 Gene Duplication in a Patient with Eye Development Defects.

scientific article

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

scientific article published on 29 October 2010

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

scientific article

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

scientific article published on 7 December 2016

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

scientific article published on 9 November 2016

Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009.

scientific article

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene

scientific article published on 04 March 2014

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes

article

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

scientific article published on 15 August 2019

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

scientific article published on 11 August 2017

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

scientific article published on 14 June 2017

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

scientific article published on 31 May 2017

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

List of works by Elise Schaefer

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Anatomical and functional abnormalities on MRI in kabuki syndrome.

Arterial tortuosity syndrome: 40 new families and literature review

Authors' response to the letter to the editor "Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation"

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome ⬇️

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

Correction: Arterial tortuosity syndrome: 40 new families and literature review

Defining the phenotypic spectrum of SLC6A1 mutations

Delineating syndrome: From congenital microcephaly to hyperkinetic encephalopathy

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Finger creases lend a hand in Kabuki syndrome.

Highly active spore biocatalyst by self-assembly of co-expressed anchoring scaffoldin and multimeric enzyme

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

MSX2 Gene Duplication in a Patient with Eye Development Defects.

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009.

New insights into genotype-phenotype correlation for GLI3 mutations

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140