H. Mefford

H. Mefford, Wei-Che Lin, T. Fu, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy

I. Scheffer, H. Mefford, S. Berkovic, 2022 .

Genetically complex epilepsies, copy number variants and syndrome constellations

H. Mefford, J. Mulley, 2010, Genome Medicine.

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

H. Mefford, I. Helbig, P. Dimova, 2013, Epilepsy Research.

Rare copy number variants are an important cause of epileptic encephalopathies

I. Scheffer, H. Mefford, E. Eichler, 2011, Annals of neurology.

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

H. Mefford, U. Stephani, A. Franke, 2014, Epilepsy Research.

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

Michael F. Wangler, J. Rosenfeld, H. Mefford, 2020, Molecular genetics & genomic medicine.

Finding the Missing Pieces: The Microdeletion Burden in GGE

H. Mefford, 2016, Epilepsy currents.

Microdeletion syndromes.

G. Carvill, H. Mefford, 2013, Current opinion in genetics & development.

Erratum: Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems (The American Journal of Human Genetics (2014) 94(5) (649–661) (S0002929714001153) (10.1016/j.ajhg.2014.03.013))

L. Vissers, A. Hoischen, G. Carvill, 2015 .

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

C. Baker, H. Mefford, E. Eichler, 2010, Brain : a journal of neurology.

Diagnostic Considerations in the Epilepsies—Testing Strategies, Test Type Advantages, and Limitations

H. Mefford, Wei-Liang Chen, 2021, Neurotherapeutics.

Expanding role of GABAA receptors in generalised epilepsies

H. Mefford, 2018, The Lancet Neurology.

A roadmap for precision medicine in the epilepsies

I. Scheffer, H. Mefford, S. Berkovic, 2015, The Lancet Neurology.

Erratum: Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Epilepsia (2013) 54 (256-264) DOI:10.1111/epi.12517)

H. Mefford, C. Elger, A. Scabar, 2013 .

Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

H. Mefford, K. Mackie, T. Bird, 2013, Human mutation.

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.

Marina T. DiStefano, H. Mefford, David T. Miller, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Amyotrophic Lateral Sclerosis Overview -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

X-Linked Hypophosphatemia -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

G. Carvill, I. Scheffer, H. Mefford, 2018, The New England journal of medicine.

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

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Mutations in KCNT1 cause a spectrum of focal epilepsies

G. Carvill, I. Scheffer, H. Mefford, 2015, Epilepsia.

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

H. Mefford, M. Rogawski, K. Staley, 2020, Epilepsy currents.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

I. Scheffer, H. Peeters, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Deafness and Hereditary Hearing Loss Overview -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

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

H. Mefford, J. N. Dines, Christina Lam, 2020, The Journal of pediatrics.

Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry

Heather C. Mefford, Kevin P. Lund, Peiwen Zhou, 2002, Nucleic Acids Res..

Diagnostic implications of genetic copy number variation in epilepsy plus

H. Mefford, L. Lagae, W. van Paesschen, 2019, Epilepsia.

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Michael R. Johnson, I. Scheffer, H. Mefford, 2017, The Lancet Neurology.

CHD2 variants are a risk factor for photosensitivity in epilepsy

I. Scheffer, H. Mefford, R. Krause, 2015, Brain : a journal of neurology.

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Christian E Elger, Holger Lerche, Ulrich Stephani, 2009, Nature Genetics.

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

I. Scheffer, H. Mefford, D. Goldstein, 2019, Annals of neurology.

KCNQ2-Related Disorders -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

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

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

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

G. Carvill, I. Scheffer, H. Mefford, 2015, American journal of human genetics.

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

Lisa T. Emrick, Michael F. Wangler, J. Rosenfeld, 2019, Nature Communications.

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

G. Carvill, I. Scheffer, H. Mefford, 2018, American journal of human genetics.

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

G. Carvill, I. Scheffer, H. Mefford, 2018, Epilepsia.

The Importance of Genome Architecture in Mental Retardation

H. Mefford, 2010 .

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

I. Scheffer, H. Mefford, E. Eichler, 2009, Human molecular genetics.

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

Deborah A Nickerson, Gregory M Cooper, Carl Baker, 2009, Genome research.

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

Yu Wang, Zhaoshi Jiang, Gregory M. Cooper, 2008, Nature Genetics.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

H. Mefford, E. Eichler, R. Regan, 2008, Journal of Medical Genetics.

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

Sharmila Banerjee-Basu, Heather C Mefford, Alan Packer, 2013, Molecular Autism.

Arylsulfatase A Deficiency -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Mucopolysaccharidosis Type I -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Gaucher Disease -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

The complex structure and dynamic evolution of human subtelomeres

Heather C. Mefford, Barbara J. Trask, B. Trask, 2002, Nature Reviews Genetics.

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

Kali T. Witherspoon, B. Coe, K. Witherspoon, 2017, European Journal of Human Genetics.

Advancing epilepsy genetics in the genomic era

H. Mefford, C. Myers, 2015, Genome Medicine.

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Jay Shendure, Serafino Buono, Hilde Peeters, 2014, Cell.

The unexpected role of copy number variations in juvenile myoclonic epilepsy

H. Mefford, I. Helbig, C. Hartmann, 2013, Epilepsy & Behavior.

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

J. Rosenfeld, H. Mefford, E. Eichler, 2010, Genetics in Medicine.

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

Deborah L. Levy, Gregory M. Cooper, Brian L. Browning, 2010, Nature Genetics.

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

Orrin Devinsky, Eric Marsh, Pasquale Striano, 2016, Journal of Medical Genetics.

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

H. Mefford, Y. Marie, S. Sisodiya, 2016, Journal of Medical Genetics.

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

Kali T. Witherspoon, Bradley P. Coe, R Bernier, 2016, Molecular Psychiatry.

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

H. Mefford, H. Maurey, V. Bouilleret, 2019, Clinical genetics.

The genetic landscape of infantile spasms.

H. Mefford, L. Carmant, E. Lemyre, 2014, Human molecular genetics.

CNVs in Epilepsy

H. Mefford, 2014, Current Genetic Medicine Reports.

Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy

H. Mefford, H. Wichmann, U. Stephani, 2013, Epilepsia.

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

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

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

Richard M Myers, Deborah A Nickerson, Jun Li, 2009, American journal of human genetics.

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

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

The genetics of microdeletion and microduplication syndromes: an update.

Andrew J Sharp, Heather C Mefford, H. Mefford, 2014, Annual review of genomics and human genetics.

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

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2014, American journal of human genetics.

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

Heather C. Mefford, Evan E. Eichler, Raphael A. Bernier, 2017, Molecular Autism.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

I. Scheffer, H. Mefford, D. Goldstein, 2017, American journal of human genetics.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

H. Mefford, A. Fry, D. Pilz, 2018, Brain : a journal of neurology.

Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis

Francesca Antonacci, Heather C Mefford, Evan E Eichler, 2010, American journal of medical genetics. Part A.

Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes.

B. Trask, G. van den Engh, H. Mefford, 2001, Human molecular genetics.

Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location.

B. Trask, G. van den Engh, H. Mefford, 2001, Human molecular genetics.

Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping

B. Trask, G. van den Engh, H. Mefford, 1997, Human Genetics.

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

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

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

Martin Kircher, George Anadiotis, Michael J Bamshad, 2019, American journal of human genetics.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, R. Møller, M. Shinawi, 2020, Genetics in Medicine.

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

L. Vissers, J. Schuurs-Hoeijmakers, A. Hoischen, 2016, Human molecular genetics.

Genotype to phenotype—discovery and characterization of novel genomic disorders in a “genotype-first” era

H. Mefford, 2009, Genetics in Medicine.

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

H. Mefford, U. Stephani, H. Muhle, 2015, Epilepsia.

Diagnostic exome sequencing--are we there yet?

H. Mefford, 2012, The New England journal of medicine.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

J. Rosenfeld, H. Mefford, E. Eichler, 2011, Journal of Medical Genetics.

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

H. Mefford, E. Eichler, D. Pinkel, 2007, American journal of human genetics.

Prospective investigation of FOXP1 syndrome

H. Mefford, E. Eichler, A. Kolevzon, 2017, Molecular Autism.

Targeted long-read sequencing identifies missing disease-causing variation.

William H. Majoros, Karynne E. Patterson, Timothy E. Reddy, 2021, American journal of human genetics.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

De novo SCN1A mutations in migrating partial seizures of infancy

I. Scheffer, H. Mefford, E. Wirrell, 2011, Neurology.

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

B. O’Roak, H. Mefford, E. Eichler, 2020, Biological Psychiatry.

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

J. Shendure, H. Mefford, E. Zackai, 2011, American journal of medical genetics. Part A.

Faculty Opinions recommendation of Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

H. Mefford, 2021, Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature.

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

G. Carvill, I. Scheffer, H. Mefford, 2021, Neurology: Genetics.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

L. Vissers, G. Carvill, I. Scheffer, 2021, Developmental medicine and child neurology.

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

G. Carvill, H. Mefford, R. Ramesar, 2018, Seizure.

SCN8A encephalopathy: Research progress and prospects

A. L. Goldin, Jacy L. Wagnon, M. Hammer, 2016, Epilepsia.

A targeted resequencing gene panel for focal epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, Neurology.

Primer Part 1—The building blocks of epilepsy genetics

H. Mefford, I. Helbig, E. Heinzen, 2016, Epilepsia.

Clinical Genetic Testing in Epilepsy

H. Mefford, 2015, Epilepsy currents.

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

I. Scheffer, H. Mefford, A. Poduri, 2019, Developmental medicine and child neurology.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

I. Scheffer, H. Mefford, N. Brunetti‐Pierri, 2020, Epilepsia.

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

I. Scheffer, H. Mefford, S. Berkovic, 2019, Epilepsy Research.

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

H. Mefford, E. Bacchelli, P. Striano, 2019, Annals of clinical and translational neurology.

17q12 Recurrent Duplication

H. Mefford, J. Hodge, E. Mitchell, 2016 .

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2021, bioRxiv.

Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

D. Hernandez, A. Singleton, H. Mefford, 2013, Human mutation.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

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

H. Mefford, A. Palotie, J. Meier, 2015, EMBO molecular medicine.

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

H. Mefford, E. Eichler, K. Buysse, 2009, Journal of Medical Genetics.

Genetic contribution to common epilepsies.

H. Mefford, S. Sisodiya, 2011, Current opinion in neurology.

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

J. Rosenfeld, H. Mefford, G. Mortier, 2015, European journal of medical genetics.

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

H. Mefford, D. Lowenstein, R. Ottman, 2018, Epilepsia.

Recurrent duplications of 17q12 associated with variable phenotypes

Tomas W. Fitzgerald, N. Carter, A. Alberti, 2015, American journal of medical genetics. Part A.

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

C. Gieger, M. Waldenberger, I. Scheffer, 2014, Human molecular genetics.

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

Kate M. Lawrence, I. Scheffer, H. Mefford, 2015, Epilepsy Research.

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

G. Carvill, I. Scheffer, H. Mefford, 2013, Neurology.

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

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Brent S. Pedersen, H. Mefford, A. Quinlan, 2021, bioRxiv.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

H. Mefford, J. Graham, T. Pierson, 2019, Genetics in Medicine.

Next-Generation Sequencing in Intellectual Disability

G. Carvill, H. Mefford, 2015, Journal of Pediatric Genetics.

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

G. Carvill, I. Scheffer, H. Mefford, 2020, Human mutation.

Diverse genetic causes of polymicrogyria with epilepsy

I. Scheffer, H. Mefford, E. Eichler, 2021, Epilepsia.

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

R. Pfundt, G. Carvill, I. Scheffer, 2018, Annals of neurology.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

R. Pfundt, H. Mefford, D. Goldstein, 2018, Annals of neurology.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

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

H. Mefford, E. Novotny, Q. Cong, 2018, American journal of medical genetics. Part A.

H. Mefford, T. Bird, R. Pagon, 2016 .

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

P. Lockhart, I. Scheffer, H. Mefford, 2020, Neuron.

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

I. Scheffer, H. Mefford, A. Bassuk, 2013, American journal of medical genetics. Part A.

Severe speech impairment is a distinguishing feature of FOXP1‐related disorder

I. Scheffer, H. Mefford, S. Fisher, 2021, Developmental medicine and child neurology.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Tuberous Sclerosis Complex -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Phenotype to Genotype and Back Again

H. Mefford, 2020, Epilepsy currents.

Jacy L. Wagnon, M. Hammer, H. Mefford, 2016 .

Mosaicism in clinical genetics.

H. Mefford, 2021, Cold Spring Harbor molecular case studies.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

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

Shashidhar Pai, Ian Glass, Louise Izatt, 2012, Journal of Medical Genetics.

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

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.

Diamond-Blackfan Anemia -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Beta-Thalassemia -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

New developments in genetic diagnosis: implications for the craniofacial surgeon.

H. Mefford, M. Cunningham, A. Hing, 2012, The Journal of craniofacial surgery.

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

H. Mefford, S. Spence, D. Ledbetter, 2015, Genetics in Medicine.

15q13.3 Microdeletion

H. Mefford, B. V. Bon, B. Vries, 2015 .

G. Carvill, H. Mefford, I. Helbig, 2015 .

Urea Cycle Disorders Overview -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

H. Mefford, I. Thiffault, T. Pastinen, 2021, Genetics in Medicine.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .

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

H. Mefford, I. Helbig, E. Heinzen, 2018, Epilepsia.

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

G. Carvill, I. Scheffer, H. Mefford, 2022, Neurology.

Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor

H. Mefford, J. Glover, R. Mani, 2022, Scientific Reports.

Detection of copy number variation using SNP genotyping.

H. Mefford, G. Cooper, 2011, Methods in molecular biology.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

15q24 microdeletion syndrome

J. Rosenfeld, H. Mefford, N. Shur, 2012 .

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

H. Mefford, J. Gécz, T. Strom, 2018, Human mutation.

Epilepsy: Beyond the single nucleotide variant in epilepsy genetics

I. Scheffer, H. Mefford, 2014, Nature Reviews Neurology.

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

H. Mefford, I. Helbig, C. Hartmann, 2013, Epilepsy & Behavior.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

H. Mefford, H. Rehm, M. Koenig, 2021, Brain : a journal of neurology.

H. Mefford, T. Bird, R. Pagon, 2016 .

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy

H. Mefford, H. Bellen, Shinya Yamamoto, 2021, medRxiv.

Neurofibromatosis 2 -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

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

H. Mefford, E. Eichler, U. Stephani, 2011, Epilepsia.

Riboflavin Transporter Deficiency Neuronopathy -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families

H. Mefford, L. Sadleir, Chontelle King, 2020, Epilepsia open.

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

Yonit A. Addissie, H. Mefford, W. Chung, 2017, Journal of Medical Genetics.

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

H. Mefford, P. Byers, M. Adam, 2015, American journal of medical genetics. Part A.

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

Alyssa A. Tran, Undiagnosed Diseases Network, J. Rosenfeld, 2023, medRxiv.

Multiple Endocrine Neoplasia Type 2 -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Classic Galactosemia and Clinical Variant Galactosemia -- GeneReviews(®)

Heather C. Mefford, Ardinger Hh, Wallace Se, 2016 .

Myotonic Dystrophy Type 2 -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

I. Scheffer, H. Mefford, M. Bahlo, 2023, Epilepsia.

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.

I. Scheffer, H. Mefford, J. Gécz, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, W. Chung, R. Møller, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Aicardi Syndrome -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, Neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Copy Number Matters in Epilepsy

Heather C Mefford, H. Mefford, 2015, Epilepsy currents.

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

H. Mefford, E. Zackai, D. Zeevi, 2020, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Marfan Syndrome -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Mitochondrial DNA Deletion Syndromes -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Mitochondrial DNA-Associated Leigh Syndrome and NARP -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Creatine Deficiency Syndromes -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Disorders of Intracellular Cobalamin Metabolism -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia

G. Carvill, H. Mefford, W. Chung, 2014, Journal of Medical Genetics.

H. Mefford, T. Bird, R. Pagon, 2016 .

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

H. Mefford, A. Palotie, J. Meier, 2015, EMBO molecular medicine.

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

H. Mefford, E. Eichler, K. Buysse, 2009, Human molecular genetics.

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

H. Mefford, F. Brancati, M. McDonald, 2021, HGG advances.

X-Linked Agammaglobulinemia -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

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

H. Mefford, G. Cantalupo, T. Pippucci, 2019, Epileptic disorders.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Primary Coenzyme Q10 Deficiency -- GeneReviews(®)

H. Mefford, R. Pagon, M. Adam, 2017 .

Charcot-Marie-Tooth Neuropathy Type 1 -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Evidence for a BRCA1 founder mutation in families of West African ancestry.

H. Mefford, M. King, C. Szabo, 1999, American journal of human genetics.

Urofacial Syndrome -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling

H. Mefford, R. Sparkes, S. Shetty, 2009, Prenatal diagnosis.

Friedreich Ataxia -- GeneReviews(®)

H. Mefford, T. Bird, M. Adam, 2016 .

Hyperkalemic Periodic Paralysis -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

I. Scheffer, H. Mefford, D. Goldstein, 2019, Epilepsia.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Whole exome sequencing identi fi es de novo mutations in GATA 6 associated with congenital diaphragmatic hernia

G. Carvill, H. Mefford, W. Chung, 2013 .

Thinking about cognition and epilepsy

H. Mefford, 2014, Epilepsy & Behavior.

Human Mutation

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Spinal Muscular Atrophy -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Neurofibromatosis 1 -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Wolf-Hirschhorn Syndrome -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.

Highlights From the Annual Meeting of the American Epilepsy Society 2022

Anup D. Patel, Alice D. Lam, Jasmine A. C. Kwasa, 2023, Epilepsy Currents.

Angelman Syndrome -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

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

H. Mefford, A. Palotie, J. Meier, 2017, EMBO molecular medicine.

Familial Hemiplegic Migraine -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

Spinocerebellar Ataxia Type 8 -- GeneReviews(®)

Heather C. Mefford, Ardinger Hh, Wallace Se, 2016 .

Glycogen Storage Disease Type III -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Campomelic Dysplasia -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

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

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

Hereditary Paraganglioma-Pheochromocytoma Syndromes -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Huntington Disease -- GeneReviews®

H. Mefford, T. Bird, R. Pagon, 2016 .

Duplication hotspots, rare genomic disorders, and common disease.

H. Mefford, E. Eichler, 2009, Current opinion in genetics & development.

The SIGLEC14 null allele is associated with Mycobacterium tuberculosis- and BCG-induced clinical and immunologic outcomes.

Richard D. Wells, H. Mefford, A. Varki, 2017, Tuberculosis.

Recurrent duplications of 17q12 associated with variable phenotypes

Tomas W. Fitzgerald, N. Carter, A. Alberti, 2015, American journal of medical genetics. Part A.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

H. Mefford, P. May, R. Krause, 2017, American journal of human genetics.

Genomics, intellectual disability, and autism.

H. Mefford, E. Hoffman, M. Batshaw, 2012, New England Journal of Medicine.

SYNGAP1 encephalopathy

H. Mefford, S. Berkovic, R. Kalnins, 2018, Neurology.

The genetic landscape of infantile spasms.

H. Mefford, L. Carmant, E. Lemyre, 2014, Human molecular genetics.

De novo mutations in the classic epileptic encephalopathies

Michael R. Johnson, I. Scheffer, H. Mefford, 2013, Nature.

Polycystic Kidney Disease, Autosomal Dominant -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

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

H. Mefford, E. Bacchelli, P. Striano, 2019, Annals of clinical and translational neurology.

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

G. Carvill, H. Mefford, S. Berkovic, 2023, medRxiv.

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

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

Mutations in ECEL1 cause distal arthrogryposis type 5D.

Gloria R. Gogola, J. Shendure, H. Mefford, 2013, American journal of human genetics.

Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.

Karynne E. Patterson, G. Carvill, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Loeys-Dietz Syndrome -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

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

H. Mefford, 2016, Epilepsy currents.

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

Daniel G. Miller, H. Mefford, D. Nickerson, 2019, American journal of human genetics.

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

H. Mefford, E. Eichler, K. Buysse, 2009, Human molecular genetics.

Genomics, intellectual disability, and autism.

H. Mefford, E. Hoffman, M. Batshaw, 2012, The New England journal of medicine.

Microphthalmia/Anophthalmia/Coloboma Spectrum -- GeneReviews(®)

H. Mefford, T. Bird, R. Pagon, 2016 .

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

G. Carvill, I. Scheffer, H. Mefford, 2019, American journal of human genetics.

H. Mefford, T. Bird, R. Pagon, 2016 .

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Michael R. Johnson, G. Carvill, I. Scheffer, 2016, American Journal of Human Genetics.