Batoul Baz

The evolution of health data ecosystems: An international survey

Jordan Lerner‐Ellis, E. Magda Price, Shehryar Subhani, Tiffany Boughtwood et autres

ca, au, gb, us, sg, nz, sa, ch, se, it, fr, Afrique du Sud, fi (code pays fourni par la source)

Germline Variants in Sporadic Pituitary Adenomas

Ali S. Alzahrani, Abdulghani Bin Nafisah, Meshael Alswailem, Balgees Alghamdi et autres

Abstract Context Data on germline genetics of pituitary adenomas (PAs) using whole-exome sequencing (WES) are limited. Objective This study investigated the germline genetic variants in patients with PAs using WES. Methods We studied 134 consecutive functioning (80.6%) and nonfunctioning (19.4%) PAs in …

sa (code pays fourni par la source)

Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes

Manal Alaamery, Jahad Alghamdi, Salam Massadeh, Mona Alsawaji et autres

Despite the enormous economic and societal burden of chronic kidney disease (CKD), its pathogenesis remains elusive, impeding specific diagnosis and targeted therapy. Herein, we sought to elucidate the genetic causes of end-stage renal disease (ESRD) and identify genetic variants associated with CKD …

sa, us (code pays fourni par la source)

Isolated Congenital Anosmia: Case Report and Literature Review

Naif H. Alotaibi, May Alrashed, Mohammed K. Drad, Leen Abu‐Safieh et autres

Isolated congenital anosmia (ICA) is a rare entity worldwide with poorly understood genetic variation. The diagnosis of ICA is made by exclusion of acquired causes of anosmia. Additionally, magnetic resonance imaging in ICA is essential for diagnosis, as it shows reduced or …

sa (code pays fourni par la source)

Molecular classification of blood and bleeding disorder genes

Batoul Baz, Mohamed Abouelhoda, Tarek Owaidah, Majed Dasouki et autres

The advances and development of sequencing techniques and data analysis resulted in a pool of informative genetic data, that can be analyzed for informing decision making in designing national screening, prevention programs, and molecular diagnostic tests. The accumulation of molecular data from …

sa, Égypte (code pays fourni par la source)

Determinants of Murine Skin Microbiota Composition in Homeostasis and Wound Healing

Jack Galbraith, Julien M. D. Legrand, N. Muller, Batoul Baz et autres

Abstract Animal microbiota have complex interactions with hosts and environment that determines its composition. Yet the ability of hosts to determine their microbiota composition is less well studied. In this study, to investigate the role host genetics in determining skin microbiota, we …

au, sa (code pays fourni par la source)

223 Murine cutaneous microbiota composition is largely mouse strain determined with microbiota changes during acute wound healing showing mouse strain specific responses

Jack Galbraith, Julien M. D. Legrand, Nicolai Müller, Katie Togher et autres

au (code pays fourni par la source)

Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission

Bashayer Al‐Mubarak, Aisha Omar, Batoul Baz, Basma Al-Abdulaziz et autres

Abstract Several types of genetic alterations occurring at numerous loci have been described in attention deficit hyperactivity disorder (ADHD). However, the role of rare single nucleotide variants (SNVs) remains under investigated. Here, we sought to identify rare SNVs with predicted deleterious effect …

sa, Égypte, us (code pays fourni par la source)

Murine dorsal hair type is genetically determined by polymorphisms in candidate genes that influence BMP and WNT signalling

Rehan M. Villani, Ayaka Johnson, Jack Galbraith, Batoul Baz et autres

Mouse dorsal coat hair types, guard, awl, auchene and zigzag, develop in three consecutive waves. To date, it is unclear if these hair types are determined genetically through expression of specific factors or can change based on their mesenchymal environment. We undertook …

au (code pays fourni par la source)

Informing Clinical Decision and Policy Making in Blood Related Disorders Using Targeted Next Generation Sequencing

Batoul Baz, Tarek Owaidah, Majed Dasouki, Mohammed Abouelhoda et autres

Decision making in the public healthcare system is heavily invested in screening and preventative medicine in addition to the translation of national initiatives that help in implementing precision medicine. Molecular testing for cancers and inherited disorders helps families, patients and healthcare providers …

sa (code pays fourni par la source)

626 Skin bacterial composition is driven largely by host genetic background and polymorphisms regulating innate immunity

Julien M. D. Legrand, N. Muller, Batoul Baz, Grant Morahan et autres

au (code pays fourni par la source)

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Disease

Eman A.A. Al Yemni, Dorota Monies, Thamer Alkhairallah, Saeed Bohlega et autres

Genetic studies of the familial forms of Parkinson's disease (PD) have identified a number of causative genes with an established role in its pathogenesis. These genes only explain a fraction of the diagnosed cases. The emergence of Next Generation Sequencing (NGS) expanded …

sa (code pays fourni par la source)