Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

Miriam S. Reuter, Hasan Tawamie, Rebecca Buchert, +26

JAMA Psychiatry

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

Rami Abou Jamra, Orianne Philippe, Annick Raas‐Rothschild, +11

The American Journal of Human Genetics

Down SyndromeIntellectual ImpairmentMendelian DisorderAutoimmune DiseaseShort Stature +12

A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

Rebecca Buchert, Hasan Tawamie, Christopher Smith, +10

The American Journal of Human Genetics

Metabolic SyndromeCataracts DueMetabolic DisorderOphthalmologyGenetic Disorder +7

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

Lars Hestbjerg Hansen, Hasan Tawamie, Yoshiko Murakami, +15

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsMolecular Genetics +5

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, +384

The American Journal of Human Genetics

Neurodevelopmental DisordersDevelopmental BiologyHeterozygous VariantsKmt2e CauseGenetics +6

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

Yoshiko Murakami, Hasan Tawamie, Yusuke Maeda, +9

PLoS Genetics

GeneticsMolecular BiologyGene CharacterizationMolecular GeneticsDisease Gene Identification +15

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Aline Bréchet, Rebecca Buchert, Jochen Schwenk, +17

Nature Communications

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Iltaf Ahmed, Rebecca Buchert, Mi Zhou, +20

Human Molecular Genetics

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, +45

The American Journal of Human Genetics

Neurodevelopmental DisordersDevelopmental BiologyF-box Protein Fbxo11Mendelian DisorderBrain Development +13

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Stefanie Beck‐Wödl, K. Harzer, Marc Sturm, +6

Acta Neuropathologica Communications