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Tawfiq Jamal Froukh
Observed names:
Froukh, Tawfiq,
T. Froukh,
TAWFIQ FROUKH,
Tawfiq Froukh
Institution:
Philadelphia University
Observed institutions:
Vrije Universiteit Brussel,
Philadelphia University,
University of Bremen,
Al-Balqa Applied University,
Philadelphia University
ORCID:
0000-0002-2862-0733
Observed ORCID:
0000-0002-2862-0733
OpenAlex ID:
A5133707033
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
2017
·
Miriam S. Reuter
, Hasan Tawamie
, et al.
·
JAMA Psychiatry
·
248
Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
2016
·
Anide Johansen
, Rasim O. Rosti
, et al.
·
The American Journal of Human Genetics
·
83
PDF
Genetic population structure of the endemic fourline wrasse (Larabicus quadrilineatus) suggests limited larval dispersal distances in the Red Sea
2007
·
TAWFIQ FROUKH
, MARC KOCHZIUS
·
Molecular Ecology
·
71
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A
2016
·
Chanshuai Han
, Reem Alkhater
, et al.
·
The American Journal of Human Genetics
·
48
PDF
Genetic basis of neurodevelopmental disorders in 103 Jordanian families
2020
·
Tawfiq Froukh
, Omar Nafie
, et al.
·
Clinical Genetics
·
35
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
2023
·
Chiara Giovenino
, Slavica Trajkova
, et al.
·
European Journal of Human Genetics
·
32
PDF
Species boundaries and evolutionary lineages in the blue green damselfishes Chromis viridis and Chromis atripectoralis (Pomacentridae)
2008
·
T. Froukh
, M. Kochzius
·
Journal of Fish Biology
·
31
PDF
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
2021
·
Lucia Laugwitz
, Annette Seibt
, et al.
·
Journal of Medical Genetics
·
30
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
2021
·
Christina K. Rapp
, Ine Van Dijck
, et al.
·
Clinical Genetics
·
24
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
2021
·
Fuad Chowdhury
, Lei Wang
, et al.
·
Genetics in Medicine
·
24
PDF
Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan
2017
·
Tawfiq Jamal Froukh
·
The Tohoku Journal of Experimental Medicine
·
24
PDF
Association Between Gasdermin A and Gasdermin B Polymorphisms and Susceptibility to Adult and Childhood Asthma Among Jordanians
2016
·
Malek Zihlif
, Nathir M. Obeidat
, et al.
·
Genetic Testing and Molecular Biomarkers
·
17
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
2026
·
Francesca Magrinelli
, Christelle Tesson
, et al.
·
Nature Communications
·
13
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
2024
·
Emily Banks
, Vincent Francis
, et al.
·
Nature Communications
·
13
PDF
First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan
2019
·
Tawfiq Froukh
·
BioMed Research International
·
12
PDF
Frequency of genetic polymorphisms of ADAM33 and their association with allergic rhinitis among Jordanians
2013
·
Malek Zihlif
, Tareq Mahafza
, et al.
·
Gene
·
12
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
2022
·
Dana Marafi
, Nina Kozar
, et al.
·
The American Journal of Human Genetics
·
11
Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families
2020
·
Tawfiq Froukh
, Ammar Hawwari
, et al.
·
BMC Medical Genetics
·
11
PDF
Autosomal Recessive Non-syndromic Keratoconus: Homozygous Frameshift Variant in the Candidate Novel Gene GALNT14
2019
·
Tawfiq Froukh
, Ammar Hawwari
·
Current Molecular Medicine
·
10
Association between Gasdermin A, Gasdermin B Polymorphisms and Allergic Rhinitis Amongst Jordanians
2020
·
Malek Zihlif
, Tareq Mahafza
, et al.
·
Endocrine Metabolic & Immune Disorders - Drug Targets
·
9
Two cases of variant late infantile ceroid lipofuscinosis in Jordan
2019
·
Omar Nafi
, Bashar Ramadan
, et al.
·
World Journal of Clinical Cases
·
9
Association Between ADAM33 Polymorphisms and Susceptibility with Adult and Childhood Asthma Among Jordanians
2014
·
Malek Zihlif
, Nadwa Zihlif
, et al.
·
Genetic Testing and Molecular Biomarkers
·
9
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
2025
·
Rebecca Buchert
, Martin D. Burkhalter
, et al.
·
The American Journal of Human Genetics
·
7
Genetic study in a family with dopa-responsive dystonia revealed a novel mutation in sepiapterin reductase gene
2019
·
Tawfiq Froukh
·
Pakistan Journal of Medical Sciences
·
6
PDF
Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype
2020
·
Oula Knuutinen
, Angela Pyle
, et al.
·
Clinical Genetics
·
5
PDF
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Works count:
37
Citation count:
798
H-index:
13
I10-index:
19
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