Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari, +90

Human Genetics

Pulmonary CirculationVascular MalformationPathologyPulmonary Alveolar ProteinosisPulmonary Physiology +2

Mammalian Target of Rapamycin Inhibitors for Intractable Epilepsy and Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex

Michael Cardamone, Danny Flanagan, David Mowat, +3

The Journal of Pediatrics

Tuberous Sclerosis ComplexGliomaRapamycin InhibitorsIntractable EpilepsyNeurology +5

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

Przemysław Szafrański, Avinash V. Dharmadhikari, Erwin Brosens, +26

Genome Research

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, +10

Orphanet Journal of Rare Diseases

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, +36

Annals of Clinical and Translational Neurology

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, +55

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderPsychiatric GeneticsZmiz1 Variants +3

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Jessica X. Chong, Viviana Caputo, Ian G. Phelps, +16

The American Journal of Human Genetics

Genetic DisorderGeneticsDegenerative DiseaseNeuroscienceNeurology +5

Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

Izak Johannes Bisschoff, Christine Zeschnigk, Denise Horn, +27

Human Mutation

Ofd1 GeneSuspected Ofd1Neurological DisorderCorticobasal DegenerationGenetics +19

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

Eric Lee, Trang T. Le, Ying Zhu, +36

Genetics in Medicine

Panel StudyNew Zealand PatientsCraniofacial AnomaliesCraniofacial Disorder

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

Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith, +79

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsDisease Gene Identification +5