Works by Alawi, Malik
Results: 55
Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1645, doi. 10.1002/humu.24071
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- Article
Characterization of novel, recurrent genomic rearrangements as sensitive MRD targets in childhood B-cell precursor ALL.
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- Blood Cancer Journal, 2019, v. 9, n. 12, p. 1, doi. 10.1038/s41408-019-0257-x
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- Article
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2448, doi. 10.1002/ajmg.a.62762
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- Article
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2056, doi. 10.1002/ajmg.a.61315
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- Article
The novel <italic>RAF1</italic> mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 470, doi. 10.1002/ajmg.a.38569
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- Article
Elsahy–Waters syndrome is caused by biallelic mutations in <italic>CDH11</italic>.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 477, doi. 10.1002/ajmg.a.38568
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- Article
Pegivirus Infection in Domestic Pigs, Germany.
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- 2016
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- Publication type:
- Letter
Close Relationship of Ruminant Pestiviruses and Classical Swine Fever Virus.
- Published in:
- Emerging Infectious Diseases, 2015, v. 21, n. 4, p. 668, doi. 10.3201/eid2104.141441
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- Article
Rapid Metagenomic Diagnostics for Suspected Outbreak of Severe Pneumonia.
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- Emerging Infectious Diseases, 2014, v. 20, n. 6, p. 1072, doi. 10.3201/eid2006.131526
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- Article
Preclinical patient‐derived modeling of castration‐resistant prostate cancer facilitates individualized assessment of homologous recombination repair deficient disease.
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- Molecular Oncology, 2023, v. 17, n. 6, p. 1129, doi. 10.1002/1878-0261.13382
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- Publication type:
- Article
A Comprehensive Analysis of Replicating Merkel Cell Polyomavirus Genomes Delineates the Viral Transcription Program and Suggests a Role for mcv-miR-M1 in Episomal Persistence.
- Published in:
- PLoS Pathogens, 2015, v. 11, n. 7, p. 1, doi. 10.1371/journal.ppat.1004974
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- Article
Exploring Tetraselmis chui microbiomes—functional metagenomics for novel catalases and superoxide dismutases.
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- Applied Microbiology & Biotechnology, 2025, v. 109, n. 1, p. 1, doi. 10.1007/s00253-024-13395-w
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- Article
New dienelactone hydrolase from microalgae bacterial community-Antibiofilm activity against fish pathogens and potential applications for aquaculture.
- Published in:
- Scientific Reports, 2024, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-50734-9
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- Article
Midgut Volvulus Adds a Murine, Neutrophil-Driven Model of Septic Condition to the Experimental Toolbox.
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- Cells (2073-4409), 2023, v. 12, n. 3, p. 366, doi. 10.3390/cells12030366
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- Article
Pregnancy-induced maternal microchimerism shapes neurodevelopment and behavior in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32230-2
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- Article
Deep metagenome and metatranscriptome analyses of microbial communities affiliated with an industrial biogas fermenter, a cow rumen, and elephant feces reveal major differences in carbohydrate hydrolysis strategies.
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- Biotechnology for Biofuels, 2016, v. 9, p. 1, doi. 10.1186/s13068-016-0534-x
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- Article
Differential regulation of extracellular matrix proteins in three recurrent liver metastases of a single patient with colorectal cancer.
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- Clinical & Experimental Metastasis, 2020, v. 37, n. 6, p. 649, doi. 10.1007/s10585-020-10058-8
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- Article
Impact of AKT1 on cell invasion and radiosensitivity in a triple negative breast cancer cell line developing brain metastasis.
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- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1129682
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- Article
Alternative interaction sites in the influenza A virus nucleoprotein mediate viral escape from the importin‐α7 mediated nuclear import pathway.
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- FEBS Journal, 2019, v. 286, n. 17, p. 3374, doi. 10.1111/febs.14868
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- Article
Immunosuppressive Yersinia Effector YopM Binds DEAD Box Helicase DDX3 to Control Ribosomal S6 Kinase in the Nucleus of Host Cells.
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- PLoS Pathogens, 2016, v. 12, n. 6, p. 1, doi. 10.1371/journal.ppat.1005660
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- Publication type:
- Article
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.
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- Neurogenetics, 2023, v. 24, n. 3, p. 171, doi. 10.1007/s10048-023-00716-w
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- Article
INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms.
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- Neurogenetics, 2023, v. 24, n. 2, p. 79, doi. 10.1007/s10048-023-00709-9
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- Article
Comprehensive profiling of myxopapillary ependymomas identifies a distinct molecular subtype with relapsing disease.
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- Neuro-Oncology, 2022, v. 24, p. 1689, doi. 10.1093/neuonc/noac088
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- Publication type:
- Article
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 256, doi. 10.1038/ejhg.2014.73
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- Publication type:
- Article
Intestinal Epithelia and Myeloid Immune Cells Shape Colitis Severity and Colorectal Carcinogenesis via High-mobility Group Box Protein 1.
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- Journal of Crohn's & Colitis, 2024, v. 18, n. 7, p. 1122, doi. 10.1093/ecco-jcc/jjae017
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- Article
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
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- 2022
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- Publication type:
- journal article
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
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- 2021
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- Publication type:
- journal article
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
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- 2020
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- Publication type:
- journal article
Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.
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- 2018
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- Publication type:
- Letter
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
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- 2018
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- Publication type:
- journal article
T-lymphocyte-specific knockout of IKK-2 or NEMO induces T<sub>h</sub>17 cells in an experimental nephrotoxic nephritis mouse model.
- Published in:
- FASEB Journal, 2019, v. 33, n. 2, p. 2359, doi. 10.1096/fj.201800485RR
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- Article
Classification of Brain Tumors by Nanopore Sequencing of Cell-Free DNA from Cerebrospinal Fluid.
- Published in:
- Clinical Chemistry, 2024, v. 70, n. 1, p. 250, doi. 10.1093/clinchem/hvad115
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- Article
Molecular profiling of an osseous metastasis in glioblastoma during checkpoint inhibition: potential mechanisms of immune escape.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00906-9
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- Article
Presence of atypical porcine pestivirus (APPV) genomes in newborn piglets correlates with congenital tremor.
- Published in:
- Scientific Reports, 2016, p. 27735, doi. 10.1038/srep27735
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- Article
Correlation of somatic mutations with outcome after FLAMSA-busulfan sequential conditioning and allogeneic stem cell transplantation in patients with myelodysplastic syndromes.
- Published in:
- European Journal of Haematology, 2016, v. 97, n. 3, p. 288, doi. 10.1111/ejh.12724
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- Article
Indication of Horizontal DNA Gene Transfer by Extracellular Vesicles.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0163665
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- Article
Salvage Chemotherapy with Cisplatin, Ifosfamide, and Paclitaxel in Aggressive Variant of Metastatic Castration-Resistant Prostate Cancer.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14948, doi. 10.3390/ijms232314948
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- Publication type:
- Article
Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca 2+ Sensitivity of the Channel.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9690, doi. 10.3390/ijms23179690
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- Article
Glioma escape signature and clonal development under immune pressure.
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- 2020
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- Publication type:
- journal article
Insights into Microalga and Bacteria Interactions of Selected Phycosphere Biofilms Using Metagenomic, Transcriptomic, and Proteomic Approaches.
- Published in:
- Frontiers in Microbiology, 2017, p. 1, doi. 10.3389/fmicb.2017.01941
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- Article
Diagnostic potential of extracellular vesicles in meningioma patients.
- Published in:
- Neuro-Oncology, 2022, v. 24, n. 12, p. 2078, doi. 10.1093/neuonc/noac127
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- Publication type:
- Article
Multiplexed mRNA analysis of brain-derived extracellular vesicles upon experimental stroke in mice reveals increased mRNA content with potential relevance to inflammation and recovery processes.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 6, p. 1, doi. 10.1007/s00018-022-04357-4
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- Publication type:
- Article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 661, doi. 10.1038/ng.3282
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- Article
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
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- Journal of Neurology, 2020, v. 267, n. 9, p. 2533, doi. 10.1007/s00415-020-09865-6
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- Article
Transcriptome Analysis in Vulvar Squamous Cell Cancer.
- Published in:
- Cancers, 2021, v. 13, n. 24, p. 6372, doi. 10.3390/cancers13246372
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- Article
Extremophilic nitrite-oxidizing Chloroflexi from Yellowstone hot springs.
- Published in:
- ISME Journal: Multidisciplinary Journal of Microbial Ecology, 2020, v. 14, n. 2, p. 364, doi. 10.1038/s41396-019-0530-9
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- Article
TDP-43 enhances translation of specific mRNAs linked to neurodegenerative disease.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. 1, p. 341, doi. 10.1093/nar/gky972
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- Publication type:
- Article
BRD4 promotes p63 and GRHL3 expression downstream of FOXO in mammary epithelial cells.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 6, p. 3130, doi. 10.1093/nar/gkw1276
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- Publication type:
- Article
Distinct clonal lineages and within-host diversification shape invasive Staphylococcus epidermidis populations.
- Published in:
- PLoS Pathogens, 2021, v. 17, n. 2, p. 1, doi. 10.1371/journal.ppat.1009304
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- Publication type:
- Article
High-resolution analysis of Merkel Cell Polyomavirus in Merkel Cell Carcinoma reveals distinct integration patterns and suggests NHEJ and MMBIR as underlying mechanisms.
- Published in:
- PLoS Pathogens, 2020, v. 16, n. 8, p. 1, doi. 10.1371/journal.ppat.1008562
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- Article