List of works - Emma Baple

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

scientific article published on 10 November 2015

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

scientific article published on 03 January 2017

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

scientific article published on 25 May 2015

An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway

scientific article published on 18 July 2017

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

scientific article published on 08 January 2019

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

scientific article published in 2022

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency

scientific article published on 20 May 2021

Delineating the expanding phenotype associated with SCAPER gene mutation

scientific article published on 13 June 2019

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

scientific article published on 29 June 2016

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

scientific article published on 03 June 2019

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

scientific article

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

article

Loss of PCLO function underlies pontocerebellar hypoplasia type III

scientific article

MNS1 variant associated with situs inversus and male infertility

scientific article published on 18 September 2019

Models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

scientific article published in 2023

Mutation of HERC2 causes developmental delay with Angelman-like features.

scientific article

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

scientific article

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures

scientific journal article

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

scientific article

No association between SCN9A and monogenic human epilepsy disorders

scientific article published on 20 November 2020

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

scientific article published on 5 August 2016

PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions

scientific article published on 31 December 2016

PCNA mutation affects DNA repair not replication.

scientific article published in January 2014

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

scientific article

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

scientific article published on 11 June 2015

Single-base substitutions in the CHM promoter as a cause of choroideremia.

scientific article published on 8 March 2017

The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination.

scientific article published on 12 August 2016

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

scientific article

List of works by Emma Baple

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency

Delineating the expanding phenotype associated with SCAPER gene mutation

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

Loss of PCLO function underlies pontocerebellar hypoplasia type III

MNS1 variant associated with situs inversus and male infertility

Models of <i>KPTN</i>-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Mutation of HERC2 causes developmental delay with Angelman-like features.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

No association between SCN9A and monogenic human epilepsy disorders

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions

PCNA mutation affects DNA repair not replication.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Single-base substitutions in the CHM promoter as a cause of choroideremia.

The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination.

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