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Search life-sciences literature (45,103,589 articles, preprints and more)

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Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway.
Gombosh M, Proskorovski-Ohayon R, Yogev Y, Eskin-Schwartz M, Hadar N, Aharoni S, Dolgin V, Cohen E, Birk OS
J Med Genet, 61(10):959-965, 24 Sep 2024
Cited by: 0 articles | PMID: 39054052
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ZNF142 mutation causes sex-dependent neurologic disorder.
Proskorovski-Ohayon R, Eskin-Schwartz M, Shorer Z, Kadir R, Halperin D, Drabkin M, Yogev Y, Aharoni S, Hadar N, Cohen H, Eremenko E, Perez Y, Birk OS
J Med Genet, 61(6):566-577, 21 May 2024
Cited by: 0 articles | PMID: 38296634
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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
Hadar N, Dolgin V, Oustinov K, Yogev Y, Poleg T, Safran A, Freund O, Agam N, Jean MM, Proskorovski-Ohayon R, Wormser O, Drabkin M, Halperin D, Eskin-Schwartz M, Narkis G, Sued-Hendrickson S, Aminov I, Gombosh M, Aharoni S, Birk OS
Hum Genet, 143(5):695-701, 12 Apr 2024
Cited by: 0 articles | PMID: 38607411
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Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.
Hadar N, Porgador O, Cohen I, Levi H, Dolgin V, Yogev Y, Sued-Hendrickson S, Shelef I, Didkovsky E, Eskin-Schwartz M, Birk OS
Eur J Hum Genet, 32(5):550-557, 04 Mar 2024
Cited by: 2 articles | PMID: 38433265 | PMCID: PMC11061164
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CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.
Eskin-Schwartz M, Dolgin V, Didkovsky E, Aminov I, Pikovsky A, Hadar N, Kristal E, Ling G, Cohen I, Zilberman U, Birk OS
Clin Genet, 105(1):44-51, 09 Oct 2023
Cited by: 0 articles | PMID: 37814412
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Ocular Torsion in Children with Horizontal Strabismus or Orthophoria.
Bdeer N, Hadar N, Raveh D, Obied B, Richard S, Zahavi A, Goldenberg-Cohen N
Children (Basel), 10(9):1536, 11 Sep 2023
Cited by: 1 article | PMID: 37761497 | PMCID: PMC10527918
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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
Wormser O, Perez Y, Dolgin V, Kamali B, Tangeman JA, Gradstein L, Yogev Y, Hadar N, Freund O, Drabkin M, Halperin D, Irron I, Grajales-Esquivel E, Del Rio-Tsonis K, Birnbaum RY, Akler G, Birk OS
NPJ Genom Med, 8(1):22, 14 Aug 2023
Cited by: 1 article | PMID: 37580330 | PMCID: PMC10425348
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De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.
Gombosh M, Yogev Y, Hadar N, Proskorovski-Ohayon R, Aharoni S, Gradstein L, Birk OS
Clin Genet, 104(5):571-576, 12 Jun 2023
Cited by: 1 article | PMID: 37308324
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GeniePool: genomic database with corresponding annotated samples based on a cloud data lake architecture.
Hadar N, Weintraub G, Gudes E, Dolev S, Birk OS
Database (Oxford), 2023:baad043, 01 Jun 2023
Cited by: 2 articles | PMID: 37311148 | PMCID: PMC10263466
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STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications.
Hadar N, Narkis G, Amar S, Varnavsky M, Palti GC, Safran A, Birk OS
Eur J Hum Genet, 31(7):738-743, 13 Apr 2023
Cited by: 1 article | PMID: 37055538
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Two Decades of Coastal Dolphin Population Surveys in Israel, Eastern Mediterranean.
Galili O, Goffman O, Roditi-Elasar M, Mevorach Y, Bigal E, Zuriel Y, Haitovich Y, Hadar N, Markovich M, Vardimon D, Reininger D, Marco S, Morick D, Ratner E, Tchernov D, Scheinin A
Biology (Basel), 12(2):328, 17 Feb 2023
Cited by: 0 articles | PMID: 36829603 | PMCID: PMC9952934
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Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Safran A, Proskorovski-Ohayon R, Eskin-Schwartz M, Yogev Y, Drabkin M, Eremenko E, Aharoni S, Freund O, Jean MM, Agam N, Hadar N, Loewenthal N, Staretz-Chacham O, Birk OS
J Inherit Metab Dis, 46(4):744-755, 09 Feb 2023
Cited by: 2 articles | PMID: 36695547
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Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.
Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H, Zarivach R, Shelef I, Perez Y, Birk OS
Proc Natl Acad Sci U S A, 120(7):e2217831120, 06 Feb 2023
Cited by: 7 articles | PMID: 36745799 | PMCID: PMC9963716
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X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.
Hadar N, Schreiber R, Eskin-Schwartz M, Kristal E, Shubinsky G, Ling G, Cohen I, Geylis M, Nahum A, Yogev Y, Birk OS
Eur J Hum Genet, 31(10):1101-1107, 04 Jan 2023
Cited by: 3 articles | PMID: 36599939 | PMCID: PMC10545727
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PSMC1 variant causes a novel neurological syndrome.
Aharoni S, Proskorovski-Ohayon R, Krishnan RK, Yogev Y, Wormser O, Hadar N, Bakhrat A, Alshafee I, Gombosh M, Agam N, Gradstein L, Shorer Z, Zarivach R, Eskin-Schwartz M, Abdu U, Birk OS
Clin Genet, 102(4):324-332, 03 Aug 2022
Cited by: 6 articles | PMID: 35861243 | PMCID: PMC9541193
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Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.
Kristal E, Nahum A, Ling G, Broides A, Shubinsky G, Eskin-Schwartz M, Hadar N, Progador O, Birk O
Immunol Res, 70(6):775-780, 01 Jul 2022
Cited by: 2 articles | PMID: 35776314
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Combined immunotherapy with controlled interleukin-12 gene therapy and immune checkpoint blockade in recurrent glioblastoma: An open-label, multi-institutional phase I trial.
Chiocca EA, Gelb AB, Chen CC, Rao G, Reardon DA, Wen PY, Bi WL, Peruzzi P, Amidei C, Triggs D, Seften L, Park G, Grant J, Truman K, Buck JY, Hadar N, Demars N, Miao J, Estupinan T, [...] Lukas RV
Neuro Oncol, 24(6):951-963, 01 Jun 2022
Cited by: 41 articles | PMID: 34850166 | PMCID: PMC9159462
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PB2110: PHARMACOKINETICS AND PHARMACODYNAMICS IN FIRST-MIND: A PHASE IB, OPEN-LABEL, RANDOMIZED STUDY OF TAFASITAMAB ± LENALIDOMIDE + R-CHOP IN PATIENTS WITH NEWLY DIAGNOSED DIFFUSE LARGE B-CELL LYMPHOMA
Belada D, Kopeckova K, Bergua Burgues J, Stevens D, Nowakowski G, Waldron-Lynch M, Hadar N, Weirather J, Lässig C, Blair D, Dreyling M
Hemasphere, 6(suppl ), 01 Jun 2022
Cited by: 0 articles | PMCID: PMC9431605
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PB2113: FRONTMIND: A PHASE III, RANDOMIZED, DOUBLE-BLIND STUDY OF TAFASITAMAB + LENALIDOMIDE + R-CHOP VS R-CHOP ALONE FOR NEWLY DIAGNOSED HIGH-INTERMEDIATE AND HIGH-RISK DIFFUSE LARGE B-CELL LYMPHOMA
Vitolo U, Nowakowski G, Burke J, Fox C, Trneny M, Chiappella A, Waldron-Lynch M, Hadar N, Pachori A, Lenz G
Hemasphere, 6(suppl ), 01 Jun 2022
Cited by: 0 articles | PMCID: PMC9428988
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TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews.
Shaki D, Eskin-Schwartz M, Hadar N, Bosin E, Carmon L, Refetoff S, Hershkovitz E, Birk OS, Haim A
Eur Thyroid J, 11(1):e210072, 07 Jan 2022
Cited by: 1 article | PMID: 34981755 | PMCID: PMC9142811
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CTIM-20. FINAL RESULTS OF CONTROLLED IL-12 MONOTHERAPY AND IN COMBINATION WITH PD-1 INHIBITOR IN ADULT SUBJECTS WITH RECURRENT GLIOBLASTOMA
Lukas R, Oberheim-Bush N, Cavaliere R, Landolfi J, Yu J, Chen C, Cordova C, Amidei C, Buck J, Hadar N, Demars N, Miao J, Loewy J, Estupinan T, Chadha K, Cooper L, Chiocca E
Neuro Oncol, 23(suppl 6):vi54-vi54, 01 Nov 2021
Cited by: 0 articles | PMCID: PMC8598676
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Are there disparities in acute stroke treatment between the Jewish and Arab populations in Israel? Results from the National Acute Stroke Israeli registry.
Simaan N, Filioglo A, Honig A, Horev A, Orion D, Bornstein NM, Telman G, Tanne D, Raphaeli G, Amsalem J, Hadar N, Habib-Simaan R, Cohen JE, Leker RR
J Neurol Sci, 423:117357, 20 Feb 2021
Cited by: 3 articles | PMID: 33725592
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CTIM-27. PHASE I/II STUDY OF CONTROLLED IL-12 AS IMMUNOTHERAPY FOR DIFFUSE INTRINSIC PONTINE GLIOMA (DIPG)
Goldman S, Mueller S, Chi S, Saratsis A, Allen R, Buck J, Demars N, Hadar N, Estupinan T, Miao J, Walsh E, Gelb A, Cooper L
Neuro Oncol, 22(suppl 2):ii39-ii39, 01 Nov 2020
Cited by: 0 articles | PMCID: PMC7650466
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CTIM-28. PHASE 2 TRIAL OF CONTROLLED IL-12 IN COMBINATION WITH PD-1 INHIBITOR IN ADULT SUBJECTS WITH RECURRENT GLIOBLASTOMA (rGBM)
Lukas R, Chiocca E, Bush N, Landolfi J, Cavaliere R, Yu J, Kurz S, Demars N, Buck J, Hadar N, Miao J, Loewy J, Wang Y, Gelb A, Cooper L
Neuro Oncol, 22(suppl 2):ii39-ii39, 01 Nov 2020
Cited by: 0 articles | PMCID: PMC7650356
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CTIM-05. COMBINATION OF CONTROLLED INTERLEUKIN-12 GENE THERAPY WITH IMMUNE CHECKPOINT BLOCKADE IN RECURRENT GLIOBLASTOMA: UPDATED RESULTS OF A MULTI-INSTITUTIONAL, OPEN LABEL PHASE 1 TRIAL
Antonio Chiocca E, Lukas R, Chen C, Rao G, Amidei C, Buck J, Hadar N, Demars N, Miao J, Estupinan T, Loewy J, Wang Y, Gelb A, Cooper L
Neuro Oncol, 22(suppl 2):ii33-ii33, 01 Nov 2020
Cited by: 0 articles | PMCID: PMC7650880
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1-25 of 46 results

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Search life-sciences literature (45,103,589 articles, preprints and more)

Search results

Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway.

ZNF142 mutation causes sex-dependent neurologic disorder.

VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.

CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.

Ocular Torsion in Children with Horizontal Strabismus or Orthophoria.

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.

De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.

GeniePool: genomic database with corresponding annotated samples based on a cloud data lake architecture.

STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications.

Two Decades of Coastal Dolphin Population Surveys in Israel, Eastern Mediterranean.

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.

X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.

PSMC1 variant causes a novel neurological syndrome.

Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.

Combined immunotherapy with controlled interleukin-12 gene therapy and immune checkpoint blockade in recurrent glioblastoma: An open-label, multi-institutional phase I trial.

PB2110: PHARMACOKINETICS AND PHARMACODYNAMICS IN FIRST-MIND: A PHASE IB, OPEN-LABEL, RANDOMIZED STUDY OF TAFASITAMAB ± LENALIDOMIDE + R-CHOP IN PATIENTS WITH NEWLY DIAGNOSED DIFFUSE LARGE B-CELL LYMPHOMA

PB2113: FRONTMIND: A PHASE III, RANDOMIZED, DOUBLE-BLIND STUDY OF TAFASITAMAB + LENALIDOMIDE + R-CHOP VS R-CHOP ALONE FOR NEWLY DIAGNOSED HIGH-INTERMEDIATE AND HIGH-RISK DIFFUSE LARGE B-CELL LYMPHOMA

TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews.

CTIM-20. FINAL RESULTS OF CONTROLLED IL-12 MONOTHERAPY AND IN COMBINATION WITH PD-1 INHIBITOR IN ADULT SUBJECTS WITH RECURRENT GLIOBLASTOMA

Are there disparities in acute stroke treatment between the Jewish and Arab populations in Israel? Results from the National Acute Stroke Israeli registry.

CTIM-27. PHASE I/II STUDY OF CONTROLLED IL-12 AS IMMUNOTHERAPY FOR DIFFUSE INTRINSIC PONTINE GLIOMA (DIPG)

CTIM-28. PHASE 2 TRIAL OF CONTROLLED IL-12 IN COMBINATION WITH PD-1 INHIBITOR IN ADULT SUBJECTS WITH RECURRENT GLIOBLASTOMA (rGBM)

CTIM-05. COMBINATION OF CONTROLLED INTERLEUKIN-12 GENE THERAPY WITH IMMUNE CHECKPOINT BLOCKADE IN RECURRENT GLIOBLASTOMA: UPDATED RESULTS OF A MULTI-INSTITUTIONAL, OPEN LABEL PHASE 1 TRIAL

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