[HTML][HTML] A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases
Background The diagnosis of rare genetic diseases is often challenging due to the
complexity of the genetic underpinnings of these conditions and the limited availability of …
complexity of the genetic underpinnings of these conditions and the limited availability of …
Overview of neural tube defects: gene–environment interactions, preventative approaches and future perspectives
Neural tube defects (NTDs) are the second most common congenital malformations of
humans, characterized by impaired development of the central nervous system. Even …
humans, characterized by impaired development of the central nervous system. Even …
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele
Z Crane-Smith, SCP De Castro… - Human Molecular …, 2023 - academic.oup.com
Orofacial clefts, including cleft lip and palate (CL/P) and neural tube defects (NTDs) are
among the most common congenital anomalies, but knowledge of the genetic basis of these …
among the most common congenital anomalies, but knowledge of the genetic basis of these …
A quest for genetic causes underlying signaling pathways associated with neural tube defects
Neural tube defects (NTDs) are serious congenital deformities of the nervous system that
occur owing to the failure of normal neural tube closures. Genetic and non-genetic factors …
occur owing to the failure of normal neural tube closures. Genetic and non-genetic factors …
[HTML][HTML] Togaram1 is expressed in the neural tube and its absence causes neural tube closure defects
Y Wang, N Kraemer, J Schneider, O Ninnemann… - Human Genetics and …, 2025 - cell.com
Neural tube closure defect pathomechanisms in human embryonic development are poorly
understood. Here we identified spina bifida patients expressing novel variants of the …
understood. Here we identified spina bifida patients expressing novel variants of the …
Identification of novel nutrient-sensitive gene regulatory networks in amniocytes from fetuses with spina bifida
M White, J Arif-Pardy, KL Connor - Reproductive Toxicology, 2023 - Elsevier
Neural tube defects (NTDs) remain among the most common congenital anomalies.
Contributing risk factors include genetics and nutrient deficiencies, however, a …
Contributing risk factors include genetics and nutrient deficiencies, however, a …
Temporal population structure, a genetic dating method for ancient Eurasian genomes from the past 10,000 years
S Behnamian, U Esposito, G Holland, G Alshehab… - Cell reports …, 2022 - cell.com
Radiocarbon dating is the gold standard in archeology to estimate the age of skeletons, a
key to studying their origins. Many published ancient genomes lack reliable and direct dates …
key to studying their origins. Many published ancient genomes lack reliable and direct dates …
Identification of novel nutrient-sensitive gene regulatory networks in amniotic fluid from fetuses with spina bifida using miRNA and transcription factor network analysis
M White, J Arif-Pardy, KL Connor - medRxiv, 2022 - medrxiv.org
Abstract Background Neural tube defects (NTDs) remain among the most common
congenital anomalies. Contributing risk factors include genetics and nutrient deficiencies …
congenital anomalies. Contributing risk factors include genetics and nutrient deficiencies …
A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases
PR Naranjo Varela, AM Parra Pérez… - 2023 - digibug.ugr.es
Background: The diagnosis of rare genetic diseases is often challenging due to the
complexity of the genetic underpinnings of these conditions and the limited availability of …
complexity of the genetic underpinnings of these conditions and the limited availability of …
RosetteArray Platform for Quantitative High-Throughput Screening of Human Neurodevelopmental Risk
BF Lundin, GT Knight, NJ Fedorchak, K Krucki, N Iyer… - bioRxiv, 2024 - biorxiv.org
Neural organoids have revolutionized how human neurodevelopmental disorders (NDDs)
are studied. Yet, their utility for screening complex NDD etiologies and in drug discovery is …
are studied. Yet, their utility for screening complex NDD etiologies and in drug discovery is …