Search Results - "Meriki, Neama"
-
1
The morbid genome of ciliopathies: an update
Published in Genetics in medicine (01-06-2020)“…Purpose Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically…”
Get full text
Journal Article -
2
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Published in American journal of human genetics (06-06-2019)“…We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of…”
Get full text
Journal Article -
3
Characterizing the morbid genome of ciliopathies
Published in Genome Biology (28-11-2016)“…Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these…”
Get full text
Journal Article -
4
Use of the Foetal Myocardial Performance Index in monochorionic, diamniotic twin pregnancy: a prospective cohort and nested case-control study
Published in The journal of maternal-fetal & neonatal medicine (18-06-2019)“…Aims: Assess clinical utility of the foetal Myocardial Performance Index (MPI) in evaluation and management of monochorionic, diamniotic twin (MCDA)…”
Get full text
Journal Article -
5
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
Published in Nature communications (29-08-2023)“…Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease patients,…”
Get full text
Journal Article -
6
Fetal cardiac function: Feasibility in obtaining the right modified myocardial performance index in a single Doppler waveform
Published in Australasian journal of ultrasound in medicine (01-02-2017)“…Objective We aimed to assess the feasibility of assessing the fetal right Myocardial Performance Index (RMPI) using single waveform and to compare absolute…”
Get full text
Journal Article -
7
The (Pulsed-Wave) Doppler Fetal Myocardial Performance Index: Technical Challenges, Clinical Applications and Future Research
Published in Fetal diagnosis and therapy (01-01-2015)“…Functional cardiovascular assessment is becoming an increasingly important tool in the study of fetal pathology. The myocardial performance index (MPI) is a…”
Get more information
Journal Article -
8
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Published in American journal of human genetics (03-10-2019)Get full text
Journal Article -
9
Use of Four-Dimensional Analysis of Power Doppler Perfusion Indices to Demonstrate Cardiac Cycle Pulsatility in Fetoplacental Flow
Published in Ultrasound in medicine & biology (01-08-2012)“…Abstract The aim of this study is to quantify fetoplacental cardiac cycle variation in virtual organ computer-aided analysis (VOCAL) power Doppler (PD) indices…”
Get full text
Journal Article -
10
The morbid genome of ciliopathies: an update
Published in Genetics in medicine (01-04-2022)Get full text
Journal Article -
11
Audit of immediate outcomes for MCDA twins following laser therapy for twin-twin transfusion syndrome at the NSW Fetal Therapy Centre
Published in Australian & New Zealand journal of obstetrics & gynaecology (01-06-2016)“…Objective To audit immediate pregnancy and neonatal outcomes of selective laser photocoagulation of communicating vessels (SLPCV) for twin–twin transfusion…”
Get full text
Journal Article -
12
Is There a Measurable Difference between the Left and Right Modified Myocardial Performance Indices, and Does This Change to Reflect Unilateral Myocardial Dysfunction in Pathology?
Published in Fetal diagnosis and therapy (01-12-2015)“…Fetal cardiac dysfunction may manifest itself unilaterally as right and left ventricles differing in design, function and load, measurable as differing in…”
Get more information
Journal Article -
13
Selection of the Sub-noise Gain Level for Acquisition of VOCAL Data Sets: A Reliability Study
Published in Ultrasound in medicine & biology (01-03-2014)“…Abstract This study was aimed at assessing the intra-observer and inter-observer repeatability of selecting the sub-noise gain (SNG) level when acquiring…”
Get full text
Journal Article -
14
GWAS signals revisited using human knockouts
Published in Genetics in medicine (01-01-2018)“…Genome-wide association studies (GWAS) have been instrumental to our understanding of the genetic risk determinants of complex traits. A common challenge in…”
Get full text
Journal Article -
15
The morbid genome of ciliopathies: an update
Published in Genetics in medicine (01-06-2020)Get full text
Journal Article -
16
Development of normal gestational ranges for the right myocardial performance index in the Australian population with three alternative caliper placements
Published in Fetal diagnosis and therapy (01-01-2014)“…To construct gestational age-adjusted reference ranges for the right fetal modified myocardial performance index (RMPI) in an Australian population and to…”
Get more information
Journal Article -
17
Evaluation of neonatal regional cerebral perfusion using power Doppler and the index fractional moving blood volume
Published in Neonatology (Basel, Switzerland) (01-01-2012)“…The high cerebral morbidity of premature neonates is thought to be related to changes in tissue perfusion in vulnerable areas of the brain. Quantification of…”
Get more information
Journal Article -
18
Novel spatial–temporal image correlation derived indices of tissue vascular impedance: A variability study
Published in Australasian journal of ultrasound in medicine (01-08-2017)“…Objectives 4D (3D + time) indices of tissue impedance using power Doppler (PD) ultrasound (US) can be measured with spatial–temporal image correlation (STIC)…”
Get full text
Journal Article