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life sciences & biomedicine (58) 58
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humans (45) 45
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analysis (5) 5
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1. Full Text A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population
by Faundes, Víctor and Malone, Geraldine and Newman, William G and Banka, Siddharth
Journal of human genetics, ISSN 1434-5161, 02/2019, Volume 64, Issue 2, pp. 161 - 170
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Phenotypes | Disease | Splicing | Congenital defects | Genomics | Genes | Amino acids | Consortia | Proteins | Databases | Protein folding | Trends | Mutation | Comparative analysis | Protein interaction | Cancer | Index Medicus
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2. Full Text Response to: ‘Mutation in MMP2 gene may result in scleroderma-like skin thickening’ by Bader-Meunier et al
by Banka, Siddharth and Newman, William G
Annals of the rheumatic diseases, ISSN 0003-4967, 01/2016, Volume 75, Issue 1, pp. e2 - E2
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Gene Duplication | Chromosomes, Human, Pair 8 - genetics | Growth Differentiation Factor 6 - genetics | Hand Deformities, Congenital - genetics | Humans | Scleroderma, Systemic - genetics | Syndecan-2 - genetics | Female | Male | Ossification, Heterotopic - genetics | Joint Diseases - congenital | Scleroderma | Genotype & phenotype | Mutation | Index Medicus
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3. Full Text Response to: ‘Mutation in MMP2 gene may result in scleroderma-like skin thickening’ by Bader-Meunieret al
by Banka, Siddharth and Newman, William G
Annals of the rheumatic diseases, ISSN 0003-4967, 01/2016, Volume 75, Issue 1, pp. e2 - e2
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4. Full Text Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status
by Burghel, George J and Khan, Unzela and Lin, Wei-Yu and Whittaker, William and Banka, Siddharth
Journal of medical genetics, ISSN 0022-2593, 01/2020, Volume 57, Issue 1, pp. 70 - 72
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Databases | Copy number | Socioeconomic factors | Socio-economic aspects | Childrens health | Biobanks | Families & family life | Population | Heredity | Trends | Index Medicus
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5. Full Text A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations
by Banka, Siddharth and Newman, William G
Orphanet journal of rare diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 84 - 84
G-6-Pase | Congenital cardiac defects | G6PC3 | Ubiquitously expressed glucose-6-phosphatase enzyme | Dursun syndrome | Uro-genital anomalies | Severe congenital neutropenia type 4 | Prominent superficial venous pattern | G-6-Pase 3 | Neutropenia | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Glycogen Storage Disease Type I - physiopathology | Amino Acid Sequence | Glucose-6-Phosphatase - genetics | Heart Defects, Congenital - etiology | Humans | Leukopenia - genetics | Molecular Sequence Data | Hypertension, Pulmonary - genetics | Male | Sequence Analysis, DNA | Neutropenia - congenital | Glucose-6-Phosphatase - metabolism | Glycogen Storage Disease Type I - diagnosis | Glycogen Storage Disease Type I - epidemiology | Heart Defects, Congenital - genetics | Glycogen Storage Disease Type I - genetics | Female | Heart Septal Defects, Atrial - genetics | Mutation | Neutropenia - genetics | Glucose-6-Phosphatase - chemistry | Hypertension | Inflammatory bowel disease | Genotype & phenotype | Bacterial infections | Hematology | Genes | Ear diseases | Glucose | Patients | Index Medicus
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6. Full Text Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
by Faundes, Víctor and Jennings, Martin D and Crilly, Siobhan and Legraie, Sarah and Withers, Sarah E and Cuvertino, Sara and Davies, Sally J and Douglas, Andrew G L and Fry, Andrew E and Harrison, Victoria and Amiel, Jeanne and Lehalle, Daphné and Newman, William G and Newkirk, Patricia and Ranells, Judith and Splitt, Miranda and Cross, Laura A and Saunders, Carol J and Sullivan, Bonnie R and Granadillo, Jorge L and Gordon, Christopher T and Kasher, Paul R and Pavitt, Graham D and Banka, Siddharth
Nature communications, ISSN 2041-1723, 02/2021, Volume 12, Issue 1, pp. 833 - 833
RNA-Binding Proteins - genetics | Protein Biosynthesis | Microcephaly - genetics | Developmental Disabilities - metabolism | Saccharomyces cerevisiae - genetics | Humans | Peptides - genetics | Ribosomes - metabolism | Male | Saccharomyces cerevisiae - drug effects | Developmental Disabilities - genetics | Peptide Initiation Factors - deficiency | Micrognathism - pathology | Saccharomyces cerevisiae - metabolism | Micrognathism - metabolism | Developmental Disabilities - pathology | Peptides - metabolism | Gene Expression Regulation, Developmental | Microcephaly - pathology | Female | Lysine - metabolism | Protein Isoforms - deficiency | Child | Amino Acid Sequence | Lysine - analogs & derivatives | Zebrafish Proteins - metabolism | Micrognathism - genetics | Microcephaly - metabolism | Zebrafish | Saccharomyces cerevisiae Proteins - genetics | Sequence Homology, Amino Acid | Peptide Initiation Factors - genetics | Lysine - genetics | Sequence Alignment | Animals | Ribosomes - genetics | Spermidine - pharmacology | Adolescent | Embryo, Nonmammalian | Saccharomyces cerevisiae Proteins - metabolism | Protein Conformation | Zebrafish Proteins - genetics | Saccharomyces cerevisiae - growth & development | Protein Isoforms - genetics | Yeasts | Phenotypes | Profiling | Yeast | Proline | Amino acids | Protein biosynthesis | Proteins | Microencephaly | Protein synthesis | Spermidine | Supplementation | Stalling | Index Medicus
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7. Full Text A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late‐onset generalized epilepsy
by Fraser, Harry and Goldman, Amy and Wright, Ronnie and Banka, Siddharth and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and The Deciphering Developmental Disorders Study
American journal of medical genetics. Part A, ISSN 1552-4825, 03/2019, Volume 179, Issue 3, pp. 507 - 511
epilepsy | intellectual difficulty | developmental delay | X‐linked inheritance | CDKL5 | X-linked inheritance | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Epilepsy, Generalized - genetics | Frameshift Mutation | Humans | Protein-Serine-Threonine Kinases - genetics | Male | Developmental Disabilities - genetics | Electroencephalography | Phenotype | Comparative Genomic Hybridization | DNA Mutational Analysis | Pedigree | Adolescent | Adult | Female | Epilepsy, Generalized - diagnosis | Developmental Disabilities - diagnosis | Infant, Newborn | Maternal Inheritance | Epilepsy | Seizures (Medicine) | Convulsions & seizures | Inheritances | Heredity | Encephalopathy | Phenotypic variations | Index Medicus
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8. Full Text Kabuki syndrome: international consensus diagnostic criteria
by Adam, Margaret P and Banka, Siddharth and Bjornsson, Hans T and Bodamer, Olaf and Chudley, Albert E and Harris, Jaqueline and Kawame, Hiroshi and Lanpher, Brendan C and Lindsley, Anew W and Merla, Giuseppe and Miyake, Noriko and Okamoto, Nobuhiko and Stumpel, Constanze T and Niikawa, Norio and Kabuki Syndrome Med Advisory Board and Kabuki Syndrome Medical Advisory Board
Journal of medical genetics, ISSN 0022-2593, 02/2019, Volume 56, Issue 2, pp. 89 - 95
KMT2D | MAKE-UP-SYNDROME | MUTATIONS | EARS | KDM6A | Kdm6a | Kmt2d | kabuki syndrome | kabuki make-up syndrome | consensus diagnostic criteria | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - etiology | Face - abnormalities | Humans | Male | DNA-Binding Proteins - genetics | Histone Demethylases - genetics | Consensus | Hematologic Diseases - diagnosis | Vestibular Diseases - etiology | Muscle Hypotonia - etiology | Hematologic Diseases - etiology | Abnormalities, Multiple - diagnosis | Hematologic Diseases - genetics | Female | Intellectual Disability - etiology | Mutation | Vestibular Diseases - diagnosis | Vestibular Diseases - genetics | Neoplasm Proteins - genetics | Abnormalities, Multiple - genetics | Genotype & phenotype | Eyelid | Congenital defects | Intellectual disabilities | Genes | DNA methylation | Diagnosis | Genetic screening | Index Medicus
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9. Full Text Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder
by Tinker, Rory J and Burghel, George J and Garg, Shruti and Steggall, Maggie and Cuvertino, Sara and Banka, Siddharth
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2021, Volume 185, Issue 1, pp. 196 - 202
microcephaly | seizures | developmental delay | 16p13.3 deletion | ATP6V0C | autism | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autism | Seizures (Medicine) | Epilepsy | Analysis | Protein-protein interactions | Animal models | Phenotypes | Transcription | Epistasis | Neurodevelopmental disorders | Microcephaly | Haploinsufficiency | Proteins | Microencephaly | Coding | Seizures
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10. Full Text Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases
by Oftedal, Bergithe E and Hellesen, Alexander and Erichsen, Martina M and Bratland, Eirik and Vardi, Ayelet and Perheentupa, Jaakko and Kemp, E. Helen and Fiskerstrand, Torunn and Viken, Marte K and Weetman, Anthony P and Fleishman, Sarel J and Banka, Siddharth and Newman, William G and Sewell, W.A.C and Sozaeva, Leila S and Zayats, Tetyana and Haugarvoll, Kristoffer and Orlova, Elizaveta M and Haavik, Jan and Johansson, Stefan and Knappskog, Per M and Løvås, Kristian and Wolff, Anette S.B and Abramson, Jakub and Husebye, Eystein S
Immunity (Cambridge, Mass.), ISSN 1074-7613, 06/2015, Volume 42, Issue 6, pp. 1185 - 1196
Life Sciences & Biomedicine | Immunology | Science & Technology | Amino Acid Sequence | Gene Frequency | Humans | Autoimmunity - genetics | Child, Preschool | Molecular Sequence Data | Male | Penetrance | Transcription Factors - genetics | DNA Mutational Analysis - methods | Mutation - genetics | Microsatellite Repeats - genetics | Russia | Young Adult | Organ Specificity - genetics | Phenotype | Norway | Pedigree | Adolescent | Adult | Female | Polyendocrinopathies, Autoimmune - genetics | Child | Genes, Dominant - genetics | Autoimmunity | Medical colleges | Children's hospitals | Analysis | Medical genetics | Genetic aspects | Gene expression | Proteins | Disease | Baldness | Lymphocytes | Enamel | Genomes | Mutation | Autoimmune diseases | Patients | Index Medicus
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11. Full Text Corneal confocal microscopy detects small‐fiber neuropathy in Charcot–Marie–Tooth disease type 1A patients
by Tavakoli, Mitra and Marshall, Andy and Banka, Siddharth and Petropoulos, Ioannis N and Fadavi, Hassan and Kingston, Helen and Malik, Rayaz A
Muscle & nerve, ISSN 0148-639X, 11/2012, Volume 46, Issue 5, pp. 698 - 704
neuropathy | electrophysiology | corneal nerves | C‐fiber | CMT1A | corneal confocal microscopy | C-fiber | Electrophysiology | Neuropathy | Corneal nerves | Corneal confocal microscopy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Nerve Fibers, Unmyelinated - pathology | Pain Measurement - methods | Humans | Middle Aged | Adult | Female | Male | Cornea - pathology | Charcot-Marie-Tooth Disease - physiopathology | Charcot-Marie-Tooth Disease - pathology | Microscopy, Confocal - methods | Microscope and microscopy | Disease | Index Medicus
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12. Full Text Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders
by Vaz, Frédéric M and McDermott, John H and Engelen, Marc and Banka, Siddharth
Brain (London, England : 1878), ISSN 0006-8950, 09/2020, Volume 143, Issue 9, pp. e77 - 2
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Spastic Paraplegia, Hereditary | Mutation - genetics | RNA Nucleotidyltransferases - genetics | Humans | Index Medicus | Abridged Index Medicus
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13. Full Text The clinical presentation caused by truncating CHD8 variants
by Douzgou, Sofia and Liang, Hui Wen and Metcalfe, Kay and Somarathi, Suresh and Tischkowitz, Marc and Mohamed, Wafik and Kini, Usha and McKee, Shane and Yates, Laura and Bertoli, Marta and Lynch, Sally Ann and Holder, Susan and Banka, Siddharth and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and the Deciphering Developmental Disorders Study
Clinical genetics, ISSN 0009-9163, 07/2019, Volume 96, Issue 1, pp. 72 - 84
macrocephaly | overgrowth | CHD8 | autism | OGID | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Binding proteins | Autism | Protein binding | DNA helicase | Sleep disorders | Intellectual disabilities | Seizures | Haploinsufficiency | Index Medicus
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