The pleiotropic spectrum of proximal 16p11. 2 CNVs
Recurrent genomic rearrangements at 16p11. 2 BP4-5 represent one of the most common
causes of genomic disorders. Originally associated with increased risk for autism spectrum …
causes of genomic disorders. Originally associated with increased risk for autism spectrum …
Clinical genomics and contextualizing genome variation in the diagnostic laboratory
Introduction The human genome contains the instructions for the development and
biological homeostasis of the human organism and the genetic transmission of traits …
biological homeostasis of the human organism and the genetic transmission of traits …
Clan genomics: From OMIM phenotypic traits to genes and biology
JR Lupski - American Journal of Medical Genetics Part A, 2021 - Wiley Online Library
Clinical characterization of a patient phenotype has been the quintessential approach for
elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis …
elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis …
[HTML][HTML] Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11. 2 microdeletion …
Congenital anomalies of the kidney and urinary tract (CAKUTs) are the most common cause
of chronic kidney disease in children. Human 16p11. 2 deletions have been associated with …
of chronic kidney disease in children. Human 16p11. 2 deletions have been associated with …
TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome
G Li, A Strong, H Wang, JS Kim… - American Journal of …, 2022 - Wiley Online Library
TBX6 encodes transcription‐factor box 6, a transcription factor critical to paraxial mesoderm
segmentation and somitogenesis during embryonic development. TBX6 haploinsufficiency …
segmentation and somitogenesis during embryonic development. TBX6 haploinsufficiency …
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung‐specific enhancer in trans to the frameshifting TBX4 …
E Yıldız Bölükbaşı, JA Karolak… - American Journal of …, 2022 - Wiley Online Library
Variants involving TBX4 are associated with a wide variety of disorders, including pulmonary
arterial hypertension, ischiocoxopodopatellar syndrome (ICPPS)/small patella syndrome …
arterial hypertension, ischiocoxopodopatellar syndrome (ICPPS)/small patella syndrome …
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
A Provenzano, A La Barbera, M Scagnet, A Pagliazzi… - Human genetics, 2021 - Springer
Abstract Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation
of 3–5 mm or more, the frequency of which is presumably much higher than one in 1000 …
of 3–5 mm or more, the frequency of which is presumably much higher than one in 1000 …
Cooperation between ETS transcription factor ETV1 and histone demethylase JMJD1A in colorectal cancer
Abstract ETS variant 1 (ETV1) is an oncogenic transcription factor. However, its role in
colorectal cancer has remained understudied. The present study demonstrated that ETV1 …
colorectal cancer has remained understudied. The present study demonstrated that ETV1 …
Understanding copy number variations through their genes: a molecular view on 16p11. 2 deletion and duplication syndromes
Neurodevelopmental disorders (NDDs) include a broad spectrum of pathological conditions
that affect> 4% of children worldwide, share common features and present a variegated …
that affect> 4% of children worldwide, share common features and present a variegated …
Clinical characterization of individuals with the distal 1q21. 1 microdeletion
SD Edwards, KV Schulze, JA Rosenfeld… - American Journal of …, 2021 - Wiley Online Library
Abstract Distal 1q21. 1 microdeletions have shown highly variable clinical expressivity and
incomplete penetrance, with affected individuals manifesting a broad spectrum of …
incomplete penetrance, with affected individuals manifesting a broad spectrum of …