H. Feldman

发表

The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy

Y. Bonneh, I. Dinstein, O. Golan, 2020, Journal of Molecular Neuroscience.

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

Mark S. Anderson, Chun Jimmie Ye, Gabriela K. Fragiadakis, 2022, Science immunology.

Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder

J. Liao, H. Mandel, S. Hsieh, 2018, Proceedings of the National Academy of Sciences.

Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results

S. Packman, A. Mehta, M. Balwani, 2021, American journal of hematology.

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants

E. Friedman, L. Kadouri, Y. Goldberg, 2020, Breast Cancer Research and Treatment.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients

E. Friedman, Y. Goldberg, T. Peretz, 2019, Breast Cancer Research and Treatment.

Studying severe long COVID to understand post-infectious disorders beyond COVID-19

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature Medicine.

A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection

Jacques Fellay, Aurora Pujol, Claire Redin, 2020, Cell.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

R. Pfundt, R. Roepman, V. Haucke, 2018, bioRxiv.

Human genetic and immunological determinants of critical COVID-19 pneumonia

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Nature.

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

J. Casanova, J. Fellay, S. Constantinescu, 2021, Nature Immunology.

Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis

Mark S. Anderson, P. Gregersen, J. Casanova, 2022, Journal of Clinical Immunology.

Constitutional microsatellite instability, genotype, and phenotype correlations in Constitutional Mismatch Repair Deficiency.

L. Guerrini-Rousseau, K. Dahan, G. Borthwick, 2022, Gastroenterology.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Gaucher disease type 3c: New patients with unique presentations and review of the literature.

Ariel Gutstein, A. Kurolap, R. Spiegel, 2019, Molecular genetics and metabolism.

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

Mark S. Anderson, J. Casanova, J. Fellay, 2022, Journal of Allergy and Clinical Immunology.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing

A. Kurolap, A. Mory, G. Malinger, 2022, Prenatal diagnosis.

Non‐immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing

A. Kurolap, Y. Yaron, Y. Yinon, 2022, Prenatal diagnosis.

18th annual meeting: Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC)

B. Campbell, S. Gallinger, M. Kalady, 2014, Familial Cancer.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

J. Derisi, F. Rieux-Laucat, J. Fellay, 2023, Nature.

Non-immune Hemolysis in Gaucher Disease and Review of the Literature

A. Kurolap, N. Dally, H. Feldman, 2021, Rambam Maimonides medical journal.

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

Mark S. Anderson, Chun Jimmie Ye, P. Gregersen, 2022, Science Immunology.

Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study

P. Chatchatee, K. Suphapeetiporn, J. Jalbert, 2024, The Lancet.

25 A phase 2/3 study evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE disease)

M. Lenardo, P. Chatchatee, Helen F. Matthews, 2023, Immunobiology.