[HTML][HTML] A systematic review on machine learning approaches in the diagnosis and prognosis of rare genetic diseases

P Roman-Naranjo, AM Parra-Perez… - Journal of biomedical …, 2023 - Elsevier
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 …

Overview of neural tube defects: gene–environment interactions, preventative approaches and future perspectives

J Isaković, I Šimunić, D Jagečić, V Hribljan, D Mitrečić - Biomedicines, 2022 - mdpi.com
Neural tube defects (NTDs) are the second most common congenital malformations of
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 …

A quest for genetic causes underlying signaling pathways associated with neural tube defects

S Rai, L Leydier, S Sharma, J Katwala… - Frontiers in Pediatrics, 2023 - frontiersin.org
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 …

[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 …

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 …

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 …

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 …

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 …

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 …