The challenges in the interpretation of genetic variants detected by genomics techniques in patients with congenital anomalies

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

(2022) François Boemer et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome

(2022) Reza Shervin Badv et al.   MOLECULAR BIOLOGY REPORTS

Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice

(2022) Mojdeh Mahdiannasser et al.   ACTA NEUROLOGICA BELGICA

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

(2021) R Mellis et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

(2021) Kandamurugu Manickam et al.   GENETICS IN MEDICINE

The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype

(2021) Miao He et al.   Frontiers in Genetics

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

(2021) Ram Singh et al.   Cold Spring Harbor Molecular Case Studies

The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant

(2021) Siren Berland et al.   Cold Spring Harbor Molecular Case Studies

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

(2019) Raphael Carapito et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases

(2019) Shoko Komatsuzaki et al.   GENETICS IN MEDICINE

De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure

(2019) Astrid Pechmann et al.   NEUROMUSCULAR DISORDERS

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

Genotype-phenotype correlations in individuals with pathogenic RERE variants

(2018) Valerie K. Jordan et al.   HUMAN MUTATION

Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes

(2018) George C. Gabriel et al.   Frontiers in Pediatrics

GRIN2A-related disorders: genotype and functional consequence predict phenotype

(2018) Vincent Strehlow et al.   BRAIN

Sibling recurrence of total anomalous pulmonary venous drainage

(2017) J.H. McDermott et al.   European Journal of Medical Genetics

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

(2017) Neeta L Vora et al.   GENETICS IN MEDICINE

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

(2017) John J Reynolds et al.   NATURE GENETICS

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

(2016) Hélène Cavé et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene

(2015) Carlo Fusco et al.   BRAIN & DEVELOPMENT

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family

(2015) Silvia Moncini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

47 patients with FLNA associated periventricular nodular heterotopia

(2015) Max Lange et al.   Orphanet Journal of Rare Diseases

Cux2 activity defines a subpopulation of perinatal neurogenic progenitors in the hippocampus

(2014) Makiko Yamada et al.   HIPPOCAMPUS

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

(2014) K. J. Carss et al.   HUMAN MOLECULAR GENETICS

Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

(2014) Angels García-Cazorla et al.   HUMAN MUTATION

Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry

(2013) Kathryn Cox et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

(2013) Claudia Voigt et al.   Orphanet Journal of Rare Diseases

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

(2013) Bum Jun Kim et al.   PLoS One

2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay

(2012) Ali Rashidi-Nezhad et al.   European Journal of Medical Genetics

Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: Phenotypic and genotypic findings

(2012) Azadeh Shojaei et al.   GENE

Points to consider in the clinical application of genomic sequencing

(2012)   GENETICS IN MEDICINE

Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects

(2012) Shobi Veleri et al.   PLoS One

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

(2010) Denise Horn et al.   HUMAN MUTATION

Oculo-dento-digital dysplasia: Lack of genotype–phenotype correlation for GJA1 mutations and usefulness of neuro-imaging

(2009) M.J. Alao et al.   European Journal of Medical Genetics