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Lara Kamal

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Articles 13
Citations 155
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Recent Articles
1.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, et al.
Genet Med . 2024 Sep; :101251. PMID: 39275948
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar...
2.
Canavati C, Sherill-Rofe D, Kamal L, Bloch I, Zahdeh F, Sharon E, et al.
Genome Med . 2024 Jan; 16(1):4. PMID: 38178268
Background: Next-generation sequencing (NGS) has significantly transformed the landscape of identifying disease-causing genes associated with genetic disorders. However, a substantial portion of sequenced patients remains undiagnosed. This may be attributed...
3.
Pater J, Penney C, ORielly D, Griffin A, Kamal L, Brownstein Z, et al.
Hum Genet . 2022 Mar; 141(3-4):431-444. PMID: 35278131
Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness genes (DFNA) remains challenging. We report a new DFNA gene, ATP11A, in a Newfoundland...
4.
Avraham K, Khalaily L, Noy Y, Kamal L, Koffler-Brill T, Taiber S
Hum Genet . 2021 Sep; 141(3-4):323-333. PMID: 34491412
The age of sequencing has provided unprecedented insights into the human genome. The coding region of the genome comprises nearly 20,000 genes, of which approximately 4000 are associated with human...
5.
Brownstein Z, Gulsuner S, Walsh T, Martins F, Taiber S, Isakov O, et al.
Clin Genet . 2020 Oct; 98(4):353-364. PMID: 33111345
Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities of...
6.
Kamal L, Pierce S, Canavati C, Rayyan A, Jaraysa T, Lobel O, et al.
Cold Spring Harb Mol Case Stud . 2020 Oct; 6(5). PMID: 33028645
Fanconi anemia is a genetically and phenotypically heterogeneous disorder characterized by congenital anomalies, bone marrow failure, cancer, and sensitivity of chromosomes to DNA cross-linking agents. One of the 22 genes...
7.
Rayyan A, Kamal L, Casadei S, Brownstein Z, Zahdeh F, Shahin H, et al.
Proc Natl Acad Sci U S A . 2020 Aug; 117(33):20070-20076. PMID: 32747562
The genetic characterization of a common phenotype for an entire population reveals both the causes of that phenotype for that place and the power of family-based, population-wide genomic analysis for...
8.
Canavati C, Klein K, Afawi Z, Pendziwiat M, Rayyan A, Kamal L, et al.
Epilepsia . 2019 May; 60(6):e67-e73. PMID: 31111464
Despite tremendous progress through next generation sequencing technologies, familial focal epilepsies are insufficiently understood. We sought to identify the genetic basis in multiplex Palestinian families with familial focal epilepsy with...
9.
Abu Diab A, AlTalbishi A, Rosin B, Kanaan M, Kamal L, Swaroop A, et al.
Acta Ophthalmol . 2019 Mar; 97(6):e877-e886. PMID: 30925032
Purpose: To identify the accurate clinical diagnosis of rare syndromic inherited retinal diseases (IRDs) based on the combination of clinical and genetic analyses. Methods: Four unrelated families with various autosomal...
10.
Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, et al.
Int J Cancer . 2017 May; 141(4):750-756. PMID: 28486781
Breast cancer among Palestinian women has lower incidence than in Europe or North America, yet is very frequently familial. We studied genetic causes of this familial clustering in a consecutive...