The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss, Hayley P. Lazar, Alina Kurolap, +46

Genetics in Medicine

Mendelian DisorderGenetic DisorderGeneticsGenotype–phenotype CorrelationsGenetic Epidemiology +5

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne, +85

Brain

Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

Jamal Ghoumid, Morgane Stichelbout, Anne‐Sophie Jourdain, +14

Genetics in Medicine

Blepharocheilodontic SyndromePathologyMolecular MedicineMedicineNeurogenetics

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome

Jamal Ghoumid, Loïc Drévillon, Seyedeh Maryam Alavi-Naini, +13

Human Molecular Genetics

GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationEpigenetics +14

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid, +11

European Journal of Human Genetics

Translational MedicinePathologyTbx5 VariantsMolecular DescriptionHolt-oram Syndrome +3

Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Jamal Ghoumid, Florence Petit, Muriel Holder‐Espinasse, +7

European Journal of Human Genetics

Genetic TestingMendelian DisorderGenetic DisorderMedicineGenetics +11

Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp>

Thomas Wirth, Giacomo Garone, Manju A. Kurian, +41

Movement Disorders

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Henri Margot, Guilaine Boursier, Claire Duflos, +58

Genetics in Medicine

Primary ImmunodeficiencyRheumatologyRegistry StudyAllergyAutoimmune Disease +10

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

Chiara Klöckner, Heinrich Sticht, Pia Zacher, +55

Genetics in Medicine

Epileptic EncephalopathyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +7

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Thomas Smol, Florence Petit, Amélie Piton, +63

Neurogenetics

Intellectual ImpairmentGenetic DisorderMed13l-related Intellectual DisabilityGenetic EpidemiologyRehabilitation +4