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H. Baris · SciRah

Researcher profile · Semantic Scholar

H. Baris

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H. Baris — researcher profile on SciRah

h-index: 27
Works: 75
Citations: 3,077

Most-cited papers

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Max A. Tischfield, H. Baris, Chen Wu, G. Rudolph +45 more
2010Cell594 citations Open access
Semantic Scholar
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management
W. Tan, H. Baris, P. Burrows, C. Robson +4 more
2007Journal of Medical Genetics290 citations Open access
Semantic Scholar
VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
Gil Stelzer, I. Plaschkes, D. Oz-Levi, A. Alkelai +17 more
2016BMC Genomics240 citations Open access
Semantic Scholar
Effect of Oral Eliglustat vs Placebo on Spleen Volume in Patients with Splenomegaly and Gaucher Disease Type 1: The ENGAGE Randomized Clinical Trial
Pramod K. Mistry, E. Lukina, H. Ben Turkia, D. Amato +17 more
2015Journal of the American Medical Association (JAMA)156 citations Open access
Semantic Scholar
Isolated Sulfite Oxidase Deficiency: A Case Report With a Novel Mutation and Review of the Literature
W. Tan, F. Eichler, S. Hoda, Melissa S. Lee +5 more
2005Pediatrics148 citations
Semantic Scholar
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.
H. Baris, I. Cohen, P. Mistry
2014Pediatric Endocrinology Reviews: diabetes, nutrition, metabolism128 citations
Semantic Scholar
Revised recommendations for the management of Gaucher disease in children
P. Kaplan, H. Baris, L. D. De Meirleir, M. Dirocco +7 more
2013European Journal of Pediatrics121 citations
Semantic Scholar
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
K. Yokote, S. Chanprasert, Lin Lee, K. Eirich +30 more
2016Human Mutation92 citations Open access
Semantic Scholar
Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial
Pramod K. Mistry, E. Lukina, H. Ben Turkia, S. Shankar +14 more
2017American journal of hematology/oncology88 citations Open access
Semantic Scholar
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
L. Haer-Wigman, Hadas Newman, R. Leibu, N. Bax +14 more
2015Human Molecular Genetics77 citations Open access
Semantic Scholar
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance
C. Durno, A. Ercan, V. Bianchi, M. Edwards +102 more
2021Journal of Clinical Oncology64 citations Open access
Semantic Scholar
PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation
F. Gulluni, Lorenzo Prever, Hua-Yi Li, P. Krafcikova +28 more
2021Science63 citations Open access
Semantic Scholar
Upper and Lower Gastrointestinal Findings in PTEN Mutation–Positive Cowden Syndrome Patients Participating in an Active Surveillance Program
Z. Levi, H. Baris, I. Kedar, Y. Niv +8 more
2011Clinical and Translational Gastroenterology61 citations Open access
Semantic Scholar
Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.
A. Kurolap, O. Eshach-Adiv, T. Hershkovitz, T. Paperna +18 more
2017New England Journal of Medicine52 citations Open access
Semantic Scholar
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
D. Tiosano, H. Baris, An-Lu Chen, M. Hitzert +22 more
2018bioRxiv51 citations Open access
Semantic Scholar
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
An-Lu Chen, D. Tiosano, T. Guran, H. Baris +12 more
2018Human Molecular Genetics50 citations Open access
Semantic Scholar
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
Marisa W. Friederich, S. Timal, Christopher A. Powell, C. Dallabona +49 more
2018Nature Communications46 citations Open access
Semantic Scholar
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance.
S. Lieberman, T. Walsh, M. Schechter, T. Adar +14 more
2017Gastroenterology45 citations
Semantic Scholar
Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium
M. Aronson, S. Gallinger, Z. Cohen, S. Cohen +29 more
2016American Journal of Gastroenterology45 citations
Semantic Scholar
Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity
H. Baris, I. Barnes-Kedar, H. Toledano, M. Halpern +13 more
2016Pediatric Blood & Cancer41 citations
Semantic Scholar
Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome.
H. Baris, I. Kedar, G. J. Halpern, T. Shohat +3 more
2007The Israel Medical Association journal : IMAJ33 citations
Semantic Scholar
Cockayne syndrome: The developing phenotype
W. Tan, H. Baris, C. Robson, V. Kimonis
2005American Journal of Medical Genetics. Part A33 citations Open access
Semantic Scholar
Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I
H. Toledano, Y. Goldberg, I. Kedar-Barnes, H. Baris +8 more
2008Familial Cancer31 citations
Semantic Scholar
Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease
D. Elstein, D. Hughes, O. Goker-Alpan, M. Stivel +6 more
2014The journal of obstetrics and gynaecology research30 citations Open access
Semantic Scholar
Loeys-Dietz Syndrome in Pregnancy: A Case Description and Report of a Novel Mutation
G. Gutman, H. Baris, R. Hirsch, D. Mandel +3 more
2009Fetal Diagnosis and Therapy30 citations
Semantic Scholar
The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis‐like phenotype and early onset cancer
Z. Levi, R. Kariv, I. Barnes-Kedar, Y. Goldberg +11 more
2015Clinical Genetics29 citations
Semantic Scholar
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency
Victoria K Tesch, Hanna IJspeert, A. Raicht, D. Rueda +20 more
2018Frontiers in Immunology28 citations Open access
Semantic Scholar
Is one diagnosis the whole story? patients with double diagnoses
A. Kurolap, N. Orenstein, I. Kedar, Monika Weisz Hubshman +10 more
2016American Journal of Medical Genetics. Part A25 citations
Semantic Scholar
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
P. Mistry, M. Balwani, H. Baris, H. Ben Turkia +22 more
2018Blood Cells, Molecules & Diseases23 citations Open access
Semantic Scholar
Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations.
D. Arkadir, T. Dinur, S. Mullin, A. Mehta +3 more
2018Blood Cells, Molecules & Diseases23 citations
Semantic Scholar
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype
A. Kurolap, O. Eshach-Adiv, C. Gonzaga-Jauregui, K. Dolnikov +10 more
2018Journal of Medical Genetics22 citations
Semantic Scholar
Microarray analysis in pregnancies with isolated echogenic bowel.
A. Singer, I. Maya, A. Koifman, Nadra Nasser Samra +4 more
2018Early Human Development21 citations
Semantic Scholar
Microarray analysis in pregnancies with isolated unilateral kidney agenesis
L. Sagi-Dain, I. Maya, A. Peleg, A. Reches +5 more
2018Pediatric Research17 citations
Semantic Scholar
Prenatal microarray analysis in right aortic arch—a retrospective cohort study and review of the literature
I. Maya, A. Singer, H. Baris, Y. Goldberg +4 more
2018Journal of Perinatology17 citations
Semantic Scholar
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita
N. Ekhilevitch, A. Kurolap, D. Oz-Levi, A. Mory +4 more
2016Clinical Genetics17 citations
Semantic Scholar
Abnormal brain magnetic resonance imaging in two patients with Smith–Magenis syndrome
I. Maya, C. Vinkler, O. Konen, L. Kornreich +6 more
2014American Journal of Medical Genetics. Part A17 citations
Semantic Scholar
Lynch Syndrome in high risk Ashkenazi Jews in Israel
Y. Goldberg, I. Kedar, Revital Kariiv, N. Halpern +16 more
2013Familial Cancer17 citations
Semantic Scholar
Type 2 Gaucher disease among in Ashkenazi Jews
S. Aviner, B. Garty, A. Rachmel, H. Baris +5 more
2009Blood Cells, Molecules & Diseases17 citations Open access
Semantic Scholar
Diagnostic utility of array‐based comparative genomic hybridization in a clinical setting
H. Baris, W. Tan, V. Kimonis, Mira B. Irons
2007American Journal of Medical Genetics. Part A17 citations Open access
Semantic Scholar
Identification of a novel polymorphism—the duplication of the NPHP1 (nephronophthisis 1) gene
H. Baris, B. Bejjani, W. Tan, D. Coulter +9 more
2006American Journal of Medical Genetics. Part A17 citations Open access
Semantic Scholar
13,845 home therapy infusions with velaglucerase alfa exemplify safety of velaglucerase alfa and increased compliance to every-other-week intravenous enzyme replacement therapy for Gaucher disease.
D. Elstein, A. Abrahamov, Anat Oz, Naama Arbel +2 more
2015Blood Cells, Molecules & Diseases16 citations
Semantic Scholar
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders
Hamid Saranjam, S. Chopra, H. Levy, B. Stubblefield +5 more
2012European Journal of Human Genetics15 citations Open access
Semantic Scholar
Genetic features of Lynch syndrome in the Israeli population
Y. Goldberg, I. Barnes-Kedar, I. Lerer, Naama Halpern +11 more
2015Clinical Genetics14 citations
Semantic Scholar
Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis
I. Sahai, H. Baris, V. Kimonis, H. Levy
2005Journal of Child Neurology13 citations Open access
Semantic Scholar
ERK Activity in Immature Leukemic Cells Drives Clonal Selection during Induction Therapy for Acute Myeloid Leukemia
M. Hayun, Maria Zaatra, Chen Itzkovich, D. Sahar +7 more
2020Scientific Reports11 citations Open access
Semantic Scholar
Hypothelia, syndactyly, and ear malformation—a variant of the scalp‐ear‐nipple syndrome?: Case report and review of the literature
H. Baris, W. Tan, V. Kimonis
2005American Journal of Medical Genetics. Part A10 citations Open access
Semantic Scholar
Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel
N. Abufreha, Yaara Leibovici Weissman, A. Fich, I. Barnes-Kedar +11 more
2017Familial Cancer9 citations
Semantic Scholar
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.
K. Weiss, Nina Ekhilevitch, L. Cohen, Sharon Bratman-Morag +9 more
2020European Journal of Medical Genetics8 citations
Semantic Scholar
X inactivation testing for identifying a non-syndromic X-linked mental retardation gene
H. Yonath, D. Marek-Yagel, Haike Resnik-Wolf, Almogit Abu-Horvitz +4 more
2011Journal of Applied Genetics8 citations
Semantic Scholar
Diagnosis of severe Type 1 Gaucher’s disease before irreversible damage occurs : is HDL cholesterol the answer?
I. Cohen, I. Yaniv, H. Baris
2010British Journal of Haematology8 citations
Semantic Scholar

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A. Mory×8
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W. Tan×7
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Z. Levi×7
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I. Cohen — researcher profile on SciRah

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A. Kurolap — researcher profile on SciRah

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I. Lerer — researcher profile on SciRah

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D. Tiosano — researcher profile on SciRah

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I. Kedar — researcher profile on SciRah