List of works - Jimmy Holder

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

scientific article published in February 2018

A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome

scientific article published on 9 April 2012

Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.

scientific article published in October 2017

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

scientific article

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

scientific article

Exonic deletion of SLC9A9 in autism with epilepsy

scientific article published on 25 February 2016

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency

scientific article published in June 2014

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

scientific article published on 08 August 2019

Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome

scientific article published on 2 July 2015

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

scientific article

SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.

scientific article

Sensory Processing Phenotypes in Phelan-McDermid Syndrome and SYNGAP1-Related Intellectual Disability

scientific article published on 21 January 2022

Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice

scientific article

Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons

scientific article

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

scientific article

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators

scientific article published on 5 February 2018

The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations

scientific article

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

scientific article published on 9 February 2018

Zonisamide in the treatment of epilepsy

scientific article published on 04 October 2011

List of works by Jimmy Holder

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome

Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.

Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

Exonic deletion of SLC9A9 in autism with epilepsy

Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake.

Sensory Processing Phenotypes in Phelan-McDermid Syndrome and SYNGAP1-Related Intellectual Disability

Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice

Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators

The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

Zonisamide in the treatment of epilepsy