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List of works by Heather C. Mefford

15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria ⬇️

scientific article published on January 23, 2013

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

scientific article

15q24 Microdeletion Syndrome

scientific article published on 25 February 2012

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

scientific article published on 16 June 2014

2014 Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions

scientific article published on May 2016

A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient

article

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

scientific article published on 5 December 2017

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

scientific article

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

scientific article published on 08 June 2009

A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies

scientific journal article

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

scientific article published on 11 May 2018

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

scientific article published on 17 February 2008

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

scientific article

A recurrent, pathogenic variant in disrupts actin filament formation and causes microcephaly and speech delay

scientific article

A targeted resequencing gene panel for focal epilepsy.

scientific article published on 30 March 2016

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

scientific article published on 01 December 2018

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome ⬇️

scientific article published on November 2, 2011

Advancing epilepsy genetics in the genomic era

scientific article (publication date: 2015)

Autism and developmental disability caused by KCNQ3 gain-of-function variants

scientific article published on 26 June 2019

BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures

scientific article published on 23 December 2019

Beyond the single nucleotide variant in epilepsy genetics

article

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

scientific article published on 04 April 2020

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

scientific article published on 01 October 2021

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

scientific article

CHD2 variants are a risk factor for photosensitivity in epilepsy

scientific article published on 17 March 2015

CHD2-Related Neurodevelopmental Disorders

CNVs in Epilepsy

scientific article published on 28 June 2014

Clarifying the role of the 22q11.2 microdeletion in juvenile myoclonic epilepsy

scientific article published in October 2013

Clinical Genetic Testing in Epilepsy

scientific article published on July 2015

Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes

scientific article published on 30 July 2019

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

scientific article published on 5 October 2017

Clinical phenotype of the recurrent 1q21.1 copy-number variant

scientific article published on 11 June 2015

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

scientific article published on 25 January 2014

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

scientific article published on 10 January 2019

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

article

Copy Number Matters in Epilepsy

scientific article published on July 2015

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

scientific article published on 25 September 2013

Copy number variants in the population: unselected does not mean unaffected

scientific article published on March 2016

Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis

scientific article published in September 2010

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

scientific article published on 01 August 2019

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

scientific article published on 15 September 2017

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

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 and biallelic DEAF1 variants cause a phenotypic spectrum

scientific article published on 29 March 2019

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

scientific article

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

scientific article

De novo mutations in epileptic encephalopathies

scientific article

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

scientific article published on 29 June 2016

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.

scientific article published on 17 May 2013

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.

scientific article published on 12 October 2016

Detection of Copy Number Variation Using SNP Genotyping ⬇️

scientific article published on 01 January 2011

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

scientific article published on 21 September 2020

Diagnostic implications of genetic copy number variation in epilepsy plus

scientific article published on 13 March 2019

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

scientific article

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

scientific article published on 12 October 2016

Double somatic mosaicism in a child with Dravet syndrome

scientific article published on 19 April 2019

Dravet syndrome in South African infants: Tools for an early diagnosis

scientific article published on 14 September 2018

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy

scientific article

Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects

scientific article published on 22 January 2020

Epilepsy and the new cytogenetics ⬇️

scientific article published on January 26, 2011

Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine‐dependent epilepsy ⬇️

scientific article published on November 19, 2012

Epileptic spasms are a feature of DEPDC5 mTORopathy.

scientific article published on 23 July 2015

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

scientific article

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

scientific article

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

scientific article published on 7 January 2013

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy

scientific article published on 04 December 2018

Expanding role of GABAA receptors in generalised epilepsies

scientific article published on 17 July 2018

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

scientific article published on 04 October 2019

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

scientific article published on 06 December 2020

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

scientific article

Finding the Missing Pieces: The Microdeletion Burden in GGE.

scientific article

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities

scientific article published on 28 August 2015

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

scientific article (publication date: February 2012)

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

scientific article

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

scientific article published on 12 March 2014

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

scientific article published on 13 December 2018

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

scientific article published on 11 August 2013

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

scientific article published on 4 April 2017

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

scientific article published on 17 March 2016

Genetic contribution to common epilepsies

scientific article published on April 2011

Genetic heterogeneity in infantile spasms

scientific article published on 29 July 2019

Genetic literacy series: Primer part 2-Paradigm shifts in epilepsy genetics

scientific article published on 09 May 2018

Genetically complex epilepsies, copy number variants and syndrome constellations ⬇️

scientific article published on October 5, 2010

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

scientific article

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

scientific article published in February 2012

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

scientific article published on 20 April 2016

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

scientific article published on 12 March 2020

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

scientific article

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.

scientific article

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies

scientific article published on 26 October 2013

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

scientific article

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy

scientific article published on 03 January 2020

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

scientific article published on 29 June 2016

Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype

scientific article published on 22 December 2020

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

scientific article published on 22 January 2016

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

scientific article

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

scientific article published in May 2014

Mutations in ECEL1 cause distal arthrogryposis type 5D

scientific article

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

Mutations in KCNT1 cause a spectrum of focal epilepsies.

scientific article

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

scientific article

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

scientific article published on 31 August 2020

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

article

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

New developments in genetic diagnosis: implications for the craniofacial surgeon

scientific article published on January 2012

Next-Generation Sequencing in Intellectual Disability

scientific article

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

scientific article published on 9 August 2017

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders

scientific article

Parental Mosaicism in "De Novo" Epileptic Encephalopathies

scientific article

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

scientific article published on 10 February 2020

Phenotype to Genotype and Back Again

scientific article published on 17 February 2020

Pitfalls in genetic testing: the story of missed SCN1A mutations

scientific article published on 14 April 2016

Population analysis of large copy number variants and hotspots of human genetic disease

scientific article published on 22 January 2009

Primer Part 1-The building blocks of epilepsy genetics

scientific article published on 25 May 2016

Prospective investigation of FOXP1 syndrome.

scientific article published on 24 October 2017

Rare copy number variants are an important cause of epileptic encephalopathies

scientific article published on December 2011

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

scientific article published on 31 January 2019

Recent advances in epilepsy genomics and genetic testing

scientific article published on 12 March 2020

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

scientific article published in October 2010

Recurrent duplications of 17q12 associated with variable phenotypes.

scientific article published on 30 September 2015

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

scientific article

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

scientific article

Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article

Return of individual results in epilepsy genomic research: A view from the field

scientific article published on 10 August 2018

SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus

scientific article published on 01 April 2019

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

scientific article

SCN8A encephalopathy: Research progress and prospects

scientific article

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

scientific article (publication date: 3 October 2013)

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

scientific article (publication date: March 2015)

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

scientific article published on 24 November 2017

Severe neurocognitive and growth disorders due to variation in THOC2 , an essential component of nuclear mRNA export machinery

scientific article published on 14 June 2018

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

scientific journal article

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

scientific article published in December 2017

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies

scientific article published on 02 July 2019

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

scientific article

Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele).

scientific article published on 15 December 2010

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

scientific article published on 24 September 2018

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

scientific article published on 31 December 2015

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

scientific article

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

article

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

scientific article published on 01 December 2019

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

scientific article published on 15 June 2020

The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy

scientific article published on 02 September 2019

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

scientific article published on 6 April 2018

The epileptology of GNB5 encephalopathy

scientific article published on 20 October 2019

The genetic landscape of infantile spasms

article

The phenotypic spectrum of SCN8A encephalopathy

scientific article

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

scientific article published on 07 January 2021

The unexpected role of copy number variations in juvenile myoclonic epilepsy ⬇️

scientific article published on July 1, 2013

Thinking about cognition and epilepsy

scientific article published on 26 September 2014

Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene

scientific article published on 15 January 2020

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects

scientific article published on 02 October 2013

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

scientific article

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 10 January 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

scientific article published on 24 December 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

scientific article published on 12 December 2018

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