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Amir Peleg
Observed names:
A. Peleg,
Peleg, Amir
Institution:
Carmel Medical Center
Observed institutions:
Technion – Israel Institute of Technology,
Emek Medical Center,
Rambam Health Care Campus,
Bnai Zion Medical Center,
Carmel Medical Center,
Clalit Health Services
show all 6
ORCID:
0000-0002-9563-7914
Observed ORCID:
0000-0002-9563-7914
OpenAlex ID:
A5006928636
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
2018
·
Jennifer J. Johnston
, Jasper J. van der Smagt
, et al.
·
Genetics in Medicine
·
226
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
2011
·
Olivier Gribouval
, Vincent Morinière
, et al.
·
Human Mutation
·
125
Power Spectral Analysis of Heart Rate Variability During the 100-g Oral Glucose Tolerance Test in Pregnant Women
2006
·
Amir Weissman
, Lior Lowenstein
, et al.
·
Diabetes Care
·
57
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy
2019
·
Marialetizia Motta
, Lena Sagi-Dain
, et al.
·
Human Molecular Genetics
·
50
National Rapid Genome Sequencing in Neonatal Intensive Care
2024
·
Daphna Marom
, Adi Mory
, et al.
·
JAMA Network Open
·
36
PDF
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
2022
·
Marieke M van der Knoop
, Reza Maroofian
, et al.
·
Brain
·
35
PDF
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1
2020
·
Zippora Brownstein
, Suleyman Gulsuner
, et al.
·
Clinical Genetics
·
31
PDF
Risk for chromosomal aberrations in apparently isolated intrauterine growth restriction: A systematic review
2017
·
Lena Sagi‐Dain
, Amir Peleg
, et al.
·
Prenatal Diagnosis
·
28
Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review
2018
·
L. Sagi‐Dain
, A. Singer
, et al.
·
Ultrasound in Obstetrics and Gynecology
·
24
PDF
First-Trimester Crown-Rump Length and Risk of Chromosomal Aberrations—A Systematic Review and Meta-analysis
2017
·
Lena Sagi-Dain
, Amir Peleg
, et al.
·
Obstetrical & Gynecological Survey
·
22
The rare 13q33–q34 microdeletions: eight new patients and review of the literature
2019
·
Lena Sagi-Dain
, Yael Goldberg
, et al.
·
Human Genetics
·
17
A novel heterozygous loss‐of‐function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature
2019
·
Lena Sagi‐Dain
, Alina Kurolap
, et al.
·
American Journal of Medical Genetics Part A
·
16
Whole‐exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot‐Marie‐Tooth neuropathy type 2U
2018
·
Lena Sagi‐Dain
, Lilach Shemer
, et al.
·
Journal of the Peripheral Nervous System
·
16
Microarray analysis in pregnancies with isolated unilateral kidney agenesis
2018
·
Lena Sagi-Dain
, Idit Maya
, et al.
·
Pediatric Research
·
16
The yield and complications of amniocentesis performed after 24 weeks of gestation
2017
·
Keren Tzadikevitch Geffen
, Ohad Ben-Zvi
, et al.
·
Archives of Gynecology and Obstetrics
·
15
The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies
2021
·
Lena Sagi-Dain
, Amihood Singer
, et al.
·
Archives of Gynecology and Obstetrics
·
9
Diagnostic yield and recognized barriers of an adult neurogenetics clinic
2021
·
Amir Peleg
, Lena Sagi-Dain
, et al.
·
Journal of Community Genetics
·
7
Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1
2017
·
Tameemi Abdalla-Moady
, Amir Peleg
, et al.
·
Molecular Neurobiology
·
6
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1
2020
·
Amir Peleg
, Alina Kurolap
, et al.
·
Clinical Dysmorphology
·
4
Familial bilateral congenital absence of the flexor pollicis longus
2018
·
A. Kramer
, A. Peleg
, et al.
·
Journal of Hand Surgery (European Volume)
·
3
[Is there an association between PUPPP and preeclampsia, abruptio placentae and fetal death?].
2004
·
Lior Lowenstein
, Ido Solt
, et al.
·
PubMed
·
3
The effect of opting‐in versus opting‐out forming on the rate of reported variants of questionable significance in prenatal microarray
2024
·
Jumana Haddad‐Halloun
, Ava Wexler
, et al.
·
International Journal of Gynecology & Obstetrics
·
2
PDF
A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly
2021
·
Irena Kessel
, Alina German
, et al.
·
American Journal of Medical Genetics Part A
·
2
Autosomal dominant thrombocytopenia associated with the CYCS p.Arg92Gly variant: clinical characterization of an additional family and observation of antiplatelet tolerance
2026
·
Emad Muhammad
, Eveline Shabbad
, et al.
·
Platelets
·
1
PDF
National Rapid Genome Sequencing in Neonatal Intensive Care
2024
·
Daphna Marom
, Adi Mory
, et al.
·
Obstetrical & Gynecological Survey
·
1
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Works count:
35
Citation count:
755
H-index:
15
I10-index:
15
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