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L. Bazak · SciRah

Researcher profile · Semantic Scholar

L. Bazak

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L. Bazak — researcher profile on SciRah

h-index: 12
Works: 44
Citations: 552

Most-cited papers

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested
L. Basel-Salmon, N. Orenstein, Keren Markus-Bustani, N. Ruhrman-Shahar +4 more
2018Genetics in Medicine81 citations Open access
Semantic Scholar
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
P. Magini, Daphne J. Smits, Laura V. Vandervore, R. Schot +48 more
2019American Journal of Human Genetics63 citations Open access
Semantic Scholar
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature
P. Hemati, Anya Revah-Politi, H. Bassan, S. Petrovski +48 more
2018American Journal of Medical Genetics. Part A59 citations Open access
Semantic Scholar
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Lin Li, Mohammad Ghorbani, M. Weisz-Hubshman, J. Rousseau +30 more
2019Journal of Clinical Investigation58 citations Open access
Semantic Scholar
Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation
Adi Shohet, L. Cohen, Danielle Haguel, Y. Mozer +5 more
2018European Journal of Human Genetics29 citations Open access
Semantic Scholar
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.
N. Orenstein, H. Goldberg-Stern, R. Straussberg, L. Bazak +11 more
2017European journal of paediatric neurology29 citations
Semantic Scholar
Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo‐Optic Dysplasia
E. Reinstein, K. Orvin, E. Tayeb-Fligelman, H. Stiebel-Kalish +11 more
2015Human Mutation27 citations Open access
Semantic Scholar
A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia
R. Solomon-Zemler, L. Basel-Vanagaite, D. Steier, S. Yakar +6 more
2017Endocrine Connections26 citations Open access
Semantic Scholar
The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations
I. Barnes-Kedar, R. Bernstein-Molho, Nava Ginzach, Shulamit Hartmajer +9 more
2018Breast Cancer Research and Treatment21 citations
Semantic Scholar
When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation
L. Basel-Salmon, N. Ruhrman-Shahar, N. Orenstein, Y. Goldberg +9 more
2020Genetics in Medicine20 citations Open access
Semantic Scholar
The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study
R. Sukenik-Halevy, S. Perlman, N. Ruhrman-Shahar, O. Engel +9 more
2022Prenatal Diagnosis16 citations Open access
Semantic Scholar
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay
A. Eliyahu, O. Barel, L. Greenbaum, Gal Zaks-Hoffer +14 more
2022Frontiers in Pediatrics15 citations Open access
Semantic Scholar
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies
Aasem Abu Shtaya, I. Kedar, L. Bazak, L. Basel-Salmon +15 more
2024Genes10 citations Open access
Semantic Scholar
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.
L. Basel-Vanagaite, N. Pillar, O. Isakov, P. Smirin-Yosef +12 more
2017Gene10 citations
Semantic Scholar
Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort
D. Brabbing-Goldstein, L. Bazak, N. Ruhrman-Shahar, G. Lidzbarsky +5 more
2024Prenatal Diagnosis9 citations
Semantic Scholar
Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant
Y. Goldberg, Y. Laitman, M. Ben-David, L. Bazak +13 more
2021Human Mutation8 citations Open access
Semantic Scholar
The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients
R. Bernstein-Molho, I. Barnes-Kedar, M. Ludman, G. Reznik +17 more
2019Breast Cancer Research and Treatment7 citations
Semantic Scholar
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
F. Ramond, Caroline Dalgliesh, M. Grimmel, Oded Wechsberg +27 more
2022Genetics in Medicine6 citations Open access
Semantic Scholar
DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition
N. Orenstein, Yoel Gofin, N. Shomron, N. Ruhrman-Shahar +6 more
2021Clinical Genetics6 citations
Semantic Scholar
Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly.
L. Basel-Salmon, N. Ruhrman-Shahar, O. Barel, Ofir Hagari +7 more
2020European Journal of Medical Genetics6 citations
Semantic Scholar
The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders
Avi Fellner, N. Ruhrman-Shahar, N. Orenstein, G. Lidzbarsky +6 more
2021Genetics in Medicine5 citations Open access
Semantic Scholar
The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting
R. Sukenik-Halevy, N. Ruhrman-Shahar, N. Orenstein, C. Gonzaga-Jauregui +7 more
2021Prenatal Diagnosis5 citations
Semantic Scholar
Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
R. Michaelson-Cohen, L. Salzer-Sheelo, R. Sukenik-Halevy, A. Koifman +19 more
2020Genetics in Medicine5 citations Open access
Semantic Scholar
Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy.
Noa Ruhrman Shahar, Dina Yagel, Rotem Greenberg, Ofer Isakov +15 more
2025Circulation Genomic and Precision Medicine4 citations
Semantic Scholar
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
Yaron Einhorn, M. Einhorn, Alina Kurolap, Dror Steinberg +9 more
2023Human Genomics4 citations Open access
Semantic Scholar
Two intronic cis‐acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia
Avi Fellner, A. Lossos, E. Kogan, Z. Argov +8 more
2021Clinical Genetics4 citations
Semantic Scholar
From phenotyping to genotyping - bioinformatics for the busy clinician.
A. Reches, K. Weiss, L. Bazak, H. Feldman +1 more
2019European Journal of Medical Genetics4 citations
Semantic Scholar
Severe Early-Onset Wilson Disease Caused by a Common Pathogenic Variant in the Bukharan Jewish Population in Israel.
N. Orenstein, Yael Mozer Glassberg, Vered Shkalim-Zemer, L. Basel-Salmon +7 more
2023Gene3 citations
Semantic Scholar
Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas
L. Basel-Salmon, N. Ruhrman-Shahar, N. Orenstein, Michal Levy +9 more
2023Genetics in medicine open3 citations Open access
Semantic Scholar
Biallelic truncating variants in the muscular A‐type lamin‐interacting protein (MLIP) gene cause myopathy with hyperCKemia
L. Salzer-Sheelo, Avi Fellner, N. Orenstein, L. Bazak +14 more
2021European Journal of Neurology3 citations
Semantic Scholar
The genetic landscape of Lynch syndrome in the Israeli population
Aasem Abu Shtaya, Sofia Naftaly Nathan, I. Kedar, Eitan Friedman +28 more
2024Familial Cancer2 citations Open access
Semantic Scholar
High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease
Aasem Abu Shtaya, N. Orenstein, L. Bazak, G. Lidzbarsky +7 more
2024Pediatric Research2 citations
Semantic Scholar
A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome
N. Ruhrman-Shahar, Nurit Assia Batzir, G. Lidzbarsky, L. Bazak +2 more
2021American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia
Aasem Abu Shtaya, R. Sukenik-Halevy, L. Bazak, G. Lidzbarsky +4 more
2023Clinical Genetics1 citations Open access
Semantic Scholar
Blue Cone Monochromacy Causes Deterioration in Visual Acuity and Color Vision in a Boy
Shirel Weiss, L. Bazak, Miriam Ehrenberg, R. Straussberg +1 more
20161 citations Open access
Semantic Scholar
Germline POT1 variants are associated with long telomeres and an unexpected broad spectrum of malignancies
Aasem Abu Shtaya, Shahar Aloni, M. Eskin-Schwartz, N. Asher +28 more
2026Genetics in medicine open0 citations Open access
Semantic Scholar
Correction: The genetic landscape of Lynch syndrome in the Israeli population
A. A. Shtaya, Sofia Naftaly Nathan, I. Kedar, Eitan Friedman +28 more
2025Familial Cancer0 citations Open access
Semantic Scholar
A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent
Nurit Assia Batzir, N. Orenstein, Y. Yaron, Alla Kuzminsky +6 more
2024Journal of Neuromuscular Diseases0 citations Open access
Semantic Scholar
A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrum.
Miriam Regev, A. Dori, G. Altarescu, O. Barel +8 more
2024Gene0 citations
Semantic Scholar
P079: A recurrent POT1 germline variant associated with early onset malignant melanoma, desmoid tumor and other malignancies
A. A. Shtaya, I. Kedar, L. Bazak, L. Basel-Salmon +10 more
2024Genetics in Medicine Open0 citations Open access
Semantic Scholar
Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome
Michal Levy, L. Bazak, Noa Lev-El, Rotem Greenberg +3 more
2023Genes0 citations Open access
Semantic Scholar
eP345: Community data-driven approach for generating cross-ethnic population carrier screening panel
Yaron Einhorn, M. Einhorn, Y. Yaron, Dror Steinberg +10 more
2022Genetics in Medicine0 citations Open access
Semantic Scholar
Corrigendum to "X-linked elliptocytosis with impaired growth is related to mutated AMMECR1" [Gene 606C (2017) 47-52].
L. Basel-Vanagaite, N. Pillar, O. Isakov, P. Smirin-Yosef +12 more
2018Gene0 citations
Semantic Scholar
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].
L. Cohen, N. Orenstein, Monica Weisz-Hubshman, L. Bazak +9 more
2017Harefuah0 citations
Semantic Scholar

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N. Orenstein×17
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N. Ruhrman-Shahar×12
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Y. Goldberg×10

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C. Gonzaga-Jauregui — researcher profile on SciRah

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