Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include
heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic …

SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic
synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and …

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders
with a complex inheritance pattern. While many rare variants in synaptic proteins have …

Pitt–Hopkins syndrome (PTHS), characterized by severe intellectual disability and typical
facial gestalt, is part of the clinical spectrum of Rett‐like syndromes. TCF4, encoding a basic …

STUDY QUESTION Does DNAH1 status influence intracytoplasmic sperm injection (ICSI)
outcomes for patients with multiple morphological abnormalities of the sperm flagella (MMAF)? …

BACKGROUND: Macrocephalic or large headed sperm with multiflagella is a rare abnormality
often associated with infertility. Sperm chromosomal abnormalities could be associated …

Autism spectrum disorder (ASD) is a common neurodevelopmental condition characterized
by marked genetic heterogeneity. Recent studies of rare structural and sequence variants …

… The 2p16.3 deletion including the NRXN1 gene coexists in three patients with the 22q13
deletion, two with ID and speech delay (III-D and III-F) and one with only speech delay (III-B). …

… A–F. Cortical malformations observed in six novel BBSOAS patients (See Fig EV1A–F for
additional MRI panel and Table 1 for clinical features). Patient (P)1 shows abnormally …

… Françoise Devillard6, … (F) Expression of MEF2C in lymphoblastoid cell line for patient
MD/2203 compared with healthy controls. … Speleman F , …