Biallelic structural variations withinFGF12detected by long-read sequencing in epilepsy

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

(2022) Kohei Hamanaka et al.   HUMAN GENETICS

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

(2022) Shruti Marwaha et al.   Genome Medicine

Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing

(2022) Luca Marsili et al.   Frontiers in Neurology

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

(2022) Simone Seiffert et al.   EBioMedicine

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

(2022) Suzanne E. de Bruijn et al.   GENETICS IN MEDICINE

Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder

(2021) Sachiko Ohori et al.   JOURNAL OF HUMAN GENETICS

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

(2021) Xuefang Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis

(2021) Naomi Tsuchida et al.   ANNALS OF THE RHEUMATIC DISEASES

Optical genome mapping enables constitutional chromosomal aberration detection

(2021) Tuomo Mantere et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted long-read sequencing identifies missing disease-causing variation

(2021) Danny E. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2021) Katrine M Johannesen et al.   BRAIN

Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

(2021) Rie Seyama et al.   JOURNAL OF HUMAN GENETICS

SCN8A encephalopathy: Mechanisms and models

(2020) Miriam H. Meisler   EPILEPSIA

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4

(2020) Ming Lei et al.   JOURNAL OF HUMAN GENETICS

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

(2020) Marina Trivisano et al.   EPILEPSIA

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

(2020) Bo Yuan et al.   GENETICS IN MEDICINE

A pipeline for complete characterization of complex germline rearrangements from long DNA reads

(2020) Satomi Mitsuhashi et al.   Genome Medicine

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

(2019) Takeshi Mizuguchi et al.   JOURNAL OF HUMAN GENETICS

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

(2019) Yoichiro Oda et al.   JOURNAL OF HUMAN GENETICS

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation

(2018) Ryo Takeguchi et al.   BRAIN & DEVELOPMENT

Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies

(2018) Na He et al.   GENETICS IN MEDICINE

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

(2018) Hefan Miao et al.   HEREDITAS

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

De NovoFGF12(Fibroblast Growth Factor 12) Functional Variation Is Potentially Associated With Idiopathic Ventricular Tachycardia

(2017) Qianqian Li et al.   Journal of the American Heart Association

Droplet Digital PCR versus qPCR for gene expression analysis with low abundant targets: from variable nonsense to publication quality data

(2017) Sean C. Taylor et al.   Scientific Reports

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

(2016) Aleksandra Siekierska et al.   NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

(2015) Satoko Miyatake et al.   JOURNAL OF HUMAN GENETICS

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

(2015) Maxime G Blanchard et al.   JOURNAL OF MEDICAL GENETICS

Disruption of Fgf13 Causes Synaptic Excitatory-Inhibitory Imbalance and Genetic Epilepsy and Febrile Seizures Plus

(2015) R. S. Puranam et al.   JOURNAL OF NEUROSCIENCE

Quantitative Proteomics Reveals Protein–Protein Interactions with Fibroblast Growth Factor 12 as a Component of the Voltage-Gated Sodium Channel 1.2 (Nav1.2) Macromolecular Complex in Mammalian Brain

(2015) Norelle C. Wildburger et al.   MOLECULAR & CELLULAR PROTEOMICS

Fibroblast Growth Factor Homologous Factors

(2014) Juan L. Pablo et al.   NEUROSCIENTIST

Structural analyses of Ca2+/CaM interaction with NaV channel C-termini reveal mechanisms of calcium-dependent regulation

(2014) Chaojian Wang et al.   Nature Communications

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Investigation of the freely available easy-to-use software ‘EZR’ for medical statistics

(2012) Y Kanda   BONE MARROW TRANSPLANTATION

Droplet Digital™ PCR quantitation of HER2 expression in FFPE breast cancer samples

(2012) Nicholas J. Heredia et al.   METHODS

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Crystal Structure of the Ternary Complex of a NaV C-Terminal Domain, a Fibroblast Growth Factor Homologous Factor, and Calmodulin

(2012) Chaojian Wang et al.   STRUCTURE

Accurate and exact CNV identification from targeted high-throughput sequence data

(2011) Alex S Nord et al.   BMC GENOMICS

Voltage-gated sodium channel-associated proteins and alternative mechanisms of inactivation and block

(2011) Mitchell Goldfarb   CELLULAR AND MOLECULAR LIFE SCIENCES

Identification of Novel Interaction Sites that Determine Specificity between Fibroblast Growth Factor Homologous Factors and Voltage-gated Sodium Channels

(2011) Chaojian Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA

(2009) R. Asselta et al.   BLOOD

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols