Rasim Özgür Rosti

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Analysis of <i>BRCA1</i> , <i>BRCA2</i> and <i>PALB2</i> related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer

Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Loss of <i>Protocadherin‐12</i><scp>L</scp>eads to <scp>D</scp>iencephalic‐<scp>M</scp>esencephalic <scp>J</scp>unction <scp>D</scp>ysplasia <scp>S</scp>yndrome

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

Mutations in <i>CEP120</i> cause Joubert syndrome as well as complex ciliopathy phenotypes

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

Uner Tan syndrome caused by a homozygous<i>TUBB2B</i>mutation affecting microtubule stability

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Novel <i>STAMBP</i> mutation and additional findings in an Arabic family

Dandy–Walker malformation, genitourinary abnormalities, and intellectual disability in two families

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

Primary cilia in neurodevelopmental disorders