K. Helbig

发表

Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies

I. Helbig, Stacey R Cohen, Michael C. Kaufman, 2022, Developmental medicine and child neurology.

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

Annapurna Poduri, Bekim Sadikovic, Erin Rooney Riggs, 2018, Human mutation.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Gene family information facilitates variant interpretation and identification of disease-associated genes

M. Daly, P. May, R. Krause, 2017, bioRxiv.

Ethan M. Goldberg, Christopher H. Thompson, C. H. Thompson, 2020, Annals of neurology.

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

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

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Genetic epilepsy with febrile seizures plus

I. Scheffer, S. Berkovic, A. Bleasel, 2017, Neurology.

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

Alex S. Felmeister, Colin A. Ellis, I. Helbig, 2020, Genetics in Medicine.

Colin A. Ellis, R. Krause, Manuela Pendziwiat, 2020, American journal of human genetics.

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

Phenotypic spectrum of GABRA1

P. Striano, H. Lerche, F. Rosenow, 2016, Neurology.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

J. Rosenfeld, L. Reinholdt, F. Scaglia, 2017, Human molecular genetics.

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

I. Scheffer, H. Mefford, G. Cioni, 2021, Brain : a journal of neurology.

Multiplex families with epilepsy

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

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

T. Strom, A. Fatemi, R. Abou Jamra, 2017, American journal of human genetics.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

Three cases of Troyer syndrome in two families of Filipino descent

K. Helbig, L. Seaver, W. Alcaraz, 2016, American journal of medical genetics. Part A.

Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

Alex S. Felmeister, Colin A. Ellis, I. Helbig, 2020, Genetics in Medicine.

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9

F. Kortüm, K. Girisha, A. Shukla, 2018, European Journal of Human Genetics.

Human KCNQ5 de novo Mutations Underlie Epilepsy and Intellectual Disability.

J. Ramirez, T. Zwingman, J. Verhoeven, 2022, Journal of neurophysiology.

Assessing the landscape of STXBP1-related disorders in 534 individuals

Colin A. Ellis, P. Striano, F. Zara, 2021, Brain : a journal of neurology.

P. Kind, J. Hentschel, D. Mitter, 2018, Brain : a journal of neurology.

Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications

L. G. Snyder, K. Helbig, J. Bain, 2022, Journal of Neurodevelopmental Disorders.

Genetic risk perception and reproductive decision making among people with epilepsy

M. Sperling, B. Bernhardt, I. Helbig, 2010, Epilepsia.

Neurologic phenotypes associated with COL4A1 / 2 mutations Expanding the spectrum of disease

D. Werring, P. Striano, S. Sisodiya, 2022 .

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

G. Carvill, I. Scheffer, H. Mefford, 2016, European Journal of Human Genetics.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

J. Rosenfeld, M. Reijnders, J. Lupski, 2017, American journal of human genetics.

Rare protein sequence variation in SV2A gene does not affect response to levetiracetam

I. Scheffer, S. Berkovic, J. Mulley, 2012, Epilepsy Research.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

Delineating the GRIN1 phenotypic spectrum A distinct genetic NMDA receptor encephalopathy

D. Misceo, J. Hentschel, V. Narayanan, 2022 .

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

Z. Niu, M. Shinawi, R. Schnur, 2015, Journal of Medical Genetics.

IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep

Ethan M. Goldberg, M. Fitzgerald, K. Helbig, 2021, Journal of Pediatric Epilepsy.

Male patients affected by mosaic PCDH19 mutations: five new cases

G. Mancini, P. Rump, D. Lindhout, 2017, neurogenetics.

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017, Genetics in Medicine.

FOXG 1 syndrome : genotype – phenotype association in 83 patients with FOXG 1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017 .

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

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

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

The role of genetic testing in epilepsy diagnosis and management

H. Lerche, Y. Weber, K. Helbig, 2017, Expert review of molecular diagnostics.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017, Brain : a journal of neurology.

Clinical spectrum of STX1B-related epileptic disorders

A. Pagnamenta, P. May, W. van Paesschen, 2019, Neurology.

STXBP1 encephalopathy

P. Striano, K. Sleegers, G. Cantalupo, 2016, Neurology.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

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

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

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

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.

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

I. Helbig, C. Mroske, K. Helbig, 2016, Genetics in Medicine.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

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.

Current knowledge of SLC6A1-related neurodevelopmental disorders

A. Scimemi, V. Crunelli, C. Brownstein, 2020, Brain communications.

Biallelic loss‐of‐function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability

S. Sajan, C. Mroske, K. Helbig, 2017, Clinical genetics.

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

S. Berkovic, S. Petrou, E. Marsh, 2020, International Journal of Molecular Sciences.

Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data

Alex S. Felmeister, R. Krause, I. Helbig, 2021, European Journal of Human Genetics.

University of Southern Denmark Clinical spectrum of STX 1 B-related epileptic disorders

P. May, S. Knight, D. Lowenstein, 2022 .

Delineating the GRIN1 phenotypic spectrum

D. Misceo, L. de Meirleir, J. Hentschel, 2016, Neurology.

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

J. Rivière, K. Boycott, J. Thevenon, 2017, Clinical genetics.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

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

Genetics of Epilepsy in the Era of Precision Medicine: Implications for Testing, Treatment, and Genetic Counseling

K. Helbig, Lacey Smith, B. Sheidley, 2018, Current Genetic Medicine Reports.

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

S. Sajan, K. Helbig, L. Immken, 2018, Clinical case reports.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

S. Traynelis, Hongjie Yuan, S. J. Myers, 2019, Brain : a journal of neurology.

Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

K. Helbig, D. Shinde, D. Grange, 2017, Human mutation.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2016, Genetics in Medicine.

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.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

E. van Binsbergen, W. Dobyns, N. Matsumoto, 2017, Brain : a journal of neurology.

DNM1 encephalopathy

I. Scheffer, H. Kirsch, S. Sisodiya, 2017, Neurology.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2018, Genetics in Medicine.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

S. Züchner, P. Bauer, R. Schüle, 2018, European Journal of Human Genetics.

Neurologic phenotypes associated with COL4A1/2 mutations

D. Werring, P. Striano, S. Sisodiya, 2018, Neurology.

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2019, Annals of clinical and translational neurology.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

D. Mitter, G. Rubboli, R. Møller, 2019, Neurology. Genetics.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

U. Stephani, Manuela Pendziwiat, H. Muhle, 2018, American journal of human genetics.

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Patrick May, Christel Depienne, Ingo Helbig, 2016, Brain : a journal of neurology.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

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

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Vinodh Narayanan, Christian Kubisch, Dominique Bonneau, 2018, American journal of human genetics.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

K. Hamacher, C. Mercer, P. Striano, 2018, Brain : a journal of neurology.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

H. Lerche, J. Benda, R. Møller, 2019, Brain : a journal of neurology.

Mutations in SCN3A cause early infantile epileptic encephalopathy

Ethan M. Goldberg, Borut Peterlin, Livija Medne, 2018, Annals of neurology.

Male patients affected by mosaic PCDH19 mutations: five new cases

P. Rump, D. Lindhout, M. Kriek, 2017, neurogenetics.

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

F. Zou, I. Helbig, E. Cooper, 2021, bioRxiv.

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Deanne M. Taylor, R. Krause, I. Helbig, 2021, Genetics in Medicine.

A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology

U. Nöthlings, J. Hampe, A. Franke, 2012, BMC Medical Genetics.

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome

Manuela Pendziwiat, I. Helbig, G. Kuhlenbäumer, 2020, Annals of clinical and translational neurology.

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Golder N Wilson, E. Roeder, D. Horn, 2020, Brain : a journal of neurology.

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

R. Schüle, L. Schöls, H. Lerche, 2016, Annals of neurology.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Child neurology telemedicine: Analyzing 14 820 patient encounters during the first year of the COVID‐19 pandemic

Ethan M. Goldberg, B. Banwell, I. Helbig, 2022, Developmental Medicine & Child Neurology.

One year of child neurology telemedicine: a data-driven analysis of 14,820 encounters

Ethan M. Goldberg, B. Banwell, I. Helbig, 2021, medRxiv.

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

I. Scheffer, J. Gécz, M. Sperling, 2021, Neurology.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

S. Züchner, P. Bauer, R. Schüle, 2018, European Journal of Human Genetics.

Neurologic phenotypes associated with COL4A1 / 2 mutations Expanding the spectrum of disease

D. Werring, P. Striano, S. Sisodiya, 2022 .

Expanding the spectrum of disease

D. Werring, E. Gardella, D. Mei, 2022 .

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017 .

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.

Genetic epilepsy with febrile seizures plus

I. Scheffer, S. Berkovic, A. Bleasel, 2022 .

The Spectrum of de novo Variants in Neurodevelopmental Disorders with Epilepsy

P. Striano, J. Kosmicki, Manuela Pendziwiat, 2017, bioRxiv.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

U. Stephani, Manuela Pendziwiat, H. Muhle, 2018, American journal of human genetics.

author-version of: De novo variants in neurodevelopmental disorders with epilepsy

J. Serratosa, J. Kosmicki, Manuela Pendziwiat, 2022 .

Clinical spectrum of STX1B-related epileptic disorders

A. Pagnamenta, P. May, W. van Paesschen, 2019, Neurology.