Language disorders are highly heritable and are influenced by complex interactions
between genetic and environmental factors. Despite more than twenty years of research, we …

Language is a defining characteristic of the human species, but its foundations remain
mysterious. Heritable disorders offer a gateway into biological underpinnings, as illustrated …

MDA5 is a cytosolic sensor of double-stranded RNA (ds) RNA including viral byproducts and
intermediates. We studied a child with life-threatening, recurrent respiratory tract infections …

The underlying genetic etiology of rhabdomyolysis remains elusive in a significant fraction of
individuals presenting with recurrent metabolic crises and muscle weakness. Using exome …

Intragenic copy-number variants (CNVs) contribute to the allelic spectrum of both Mendelian
and complex disorders. Although pathogenic deletions and duplications in SPAST …

Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of
isolated nephronophthisis (NPHP) in humans. A deletion of the same genomic interval has …

Structural anomalies of the central nervous system (CNS) are one of the most common fetal
anomalies found during prenatal imaging. However, the genomic architecture of prenatal …

In areas without newborn screening for severe combined immunodeficiency (SCID), disease-
defining infections may lead to diagnosis, and in some cases, may not be identified prior to …

Low vitamin D (vitD) levels have been consistently reported in schizophrenia (SCZ)
suggesting a role in the etiopathology. However, little is known about the role of underlying …

Reading and language abilities are critical for educational achievement and success in
adulthood. Variation in these traits is highly heritable, but the underlying genetic architecture …