H. Elloumi

发表

Immune Function in Young Children With Previous Pulmonary or Miliary/Meningeal Tuberculosis and Impact of BCG Vaccination

S. Holland, T. Sterling, D. Greenberg, 2007, Pediatrics.

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.

Vladimir G. Gainullin, D. Ledbetter, C. Martin, 2021, JAMA.

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

A. Need, A. Pagnamenta, J. Wren, 2021, Genetics in Medicine.

Early Life Stress Triggers Persistent Colonic Barrier Dysfunction and Exacerbates Colitis in Adult IL-10−/− Mice

S. Plevy, N. Maharshak, L. Borst, 2013, Inflammatory bowel diseases.

The commercial genetic testing landscape for Parkinson's disease.

I. König, C. Blauwendraat, M. Farrer, 2021, Parkinsonism & related disorders.

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

R. Ganetzky, R. Maroofian, H. Houlden, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Early-onset phenotype of bi-allelic GRN mutations.

S. Franceschetti, I. Santana, S. Efthymiou, 2020, Brain : a journal of neurology.

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

Adeline R. Whitney, Smita Y. Patel, Steven M Holland, 2010, Blood.

Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

W. Paul, S. Holland, D. Douek, 2008, Nature.

STAT3 mutations in the hyper-IgE syndrome.

Bodo Grimbacher, Alejandro A Schäffer, Adeline R. Whitney, 2007, The New England journal of medicine.

Complex regulation of human cathelicidin gene expression: novel splice variants and 5'UTR negative regulatory element.

S. Holland, H. Elloumi, 2008, Molecular immunology.

NFIL3 Is a Regulator of IL-12 p40 in Macrophages and Mucosal Immunity

T. Hibi, S. Smale, S. Plevy, 2011, The Journal of Immunology.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

A Cell Permeable Peptide Inhibitor of NFAT Inhibits Macrophage Cytokine Expression and Ameliorates Experimental Colitis

S. Plevy, C. Jobin, N. Maharshak, 2012, PloS one.

Fanconi anemia: contribution of molecular analyses to the identification of bone marrow graft donors and the study of chimerism in grafted patients.

S. Abdelhak, K. Dellagi, A. Saâd, 2004, Genetic testing.

Diagnostic assays for chronic granulomatous disease and other neutrophil disorders.

S. Holland, H. Elloumi, 2007, Methods in molecular biology.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

A. Reymond, R. Myers, G. Cooper, 2022, American journal of human genetics.

Virulence and Cellular Interactions of Burkholderia multivorans in Chronic Granulomatous Disease

J. Goldberg, S. Holland, R. Ulrich, 2009, Infection and Immunity.

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

M. M. Morrow, M. Shinawi, D. Chitayat, 2021, Pediatric neurology.

Mycobacterium abscessus and M. avium trigger Toll-like receptor 2 and distinct cytokine response in human cells.

A. Sher, S. Holland, E. Sampaio, 2008, American Journal of Respiratory Cell and Molecular Biology.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2023, Nature communications.

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Antonarakis, Noskova, Meadows, 2022, medRxiv.

Phenotypic continuum of NFU1 ‐related disorders

J. Ganesh, H. Galehdari, S. Efthymiou, 2022, Annals of clinical and translational neurology.

Mycobacterium abscessus and M. avium trigger Toll-like receptor 2 and distinct cytokine response in human cells.

A. Sher, S. Holland, E. Sampaio, 2008, American journal of respiratory cell and molecular biology.

Mycobacterium Abscessus and M. Avium Trigger Toll-like Receptor 2 and Distinct Cytokine Response in Human Cells Materials and Methods

E. Sampaio, Michelle L. Paulson, A. Zelazny, 2022 .

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Mahshid S. Azamian, S. Lalani, B. Isidor, 2023, American journal of medical genetics. Part A.

This information is current as Macrophages and Mucosal Immunity NFIL 3 Is a Regulator of IL-12 p 40 in Kashiwada and

T. Hibi, S. Smale, S. Plevy, 2011 .