نتائج البحث - "Suzanne M. Leal"

1

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

المؤلفون: Thashi Bharadwaj, Anushree Acharya, Khurram Liaqat, Gordon A. Awandare, Kevin K Esoh, Elvis Twumasi Aboagye, Shaheen Mowla, Suzanne M. Leal, Sulman Basit, Isabelle Schrauwen, Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Liz M Nouel-Saied, Wasim Ahmad, Ambroise Wonkam

المصدر: Journal of Human Genetics

مصطلحات موضوعية: Male, Models, Molecular, Genotype, In silico, Biology, Article, Structure-Activity Relationship, 03 medical and health sciences, chemistry.chemical_compound, Exon, 0302 clinical medicine, Exome Sequencing, Genetics, medicine, Humans, Solute Carrier Family 12, Member 2, Genetic Predisposition to Disease, Inner ear, Amino Acid Sequence, Hearing Loss, Gene, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Disease genetics, Genetic heterogeneity, Sequence Analysis, DNA, Pedigree, Phenotype, medicine.anatomical_structure, chemistry, Mutation, Female, Neurological disorders, 030217 neurology & neurosurgery, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71acd39b4617391a36f199eda43b95ddTest
https://doi.org/10.1038/s10038-021-00954-6Test

2

A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

المؤلفون: Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Kevin Esoh, Anushree Acharya, Thashi Bharadwaj, Nicole S. Lin, Lucas Amenga-Etego, Gordon A. Awandare, Isabelle Schrauwen, Suzanne M. Leal, Ambroise Wonkam

المصدر: BMC medical genomics. 15(1)

مصطلحات موضوعية: Adult, Proteins, Ghana, Pedigree, Mice, Exome Sequencing, Mutation, Genetics, Humans, Animals, Exome, Child, Hearing Loss, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::775572e9852e9abeffdb84a21ef4f21fTest
https://pubmed.ncbi.nlm.nih.gov/36357908Test

3

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

المصدر: Communications Biology. 5

مصطلحات موضوعية: Medicine (miscellaneous), Myosins, Cadherins, Ghana, General Biochemistry, Genetics and Molecular Biology, Mice, MARVEL Domain Containing 2 Protein, Mutation, Exome Sequencing, Animals, Humans, Exome, Hearing Loss, General Agricultural and Biological Sciences

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1830e0ac0034fd987bd6d96c131a5c7Test
https://doi.org/10.1038/s42003-022-03326-8Test

4

Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies

المؤلفون: Yiming Zheng, Chengyue Sun, Yilin Liu, Siwen Zhang, Meng Yu, Zhiying Xie, Yun Yuan, Gao Wang, Lingchao Meng, Wei Zhang, Isabelle Schrauwen, Suzanne M. Leal, Anushree Acharya, Diana M Cornejo-Sanchez, Zhaoxia Wang

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 2041-2046 (2020)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33bde88ac4e8c3974ead51760ea0f63fTest
http://europepmc.org/articles/PMC7545597Test

5

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

المساهمون: Clinical Genetics

المصدر: American Journal of Human Genetics, 108(12), 2368-2384. Cell Press
Am J Hum Genet

مصطلحات موضوعية: Male, Microcephaly, DNA Mutational Analysis, Compound heterozygosity, Cohort Studies, Exon, Missense mutation, Child, Cells, Cultured, Genetics (clinical), Exome sequencing, Genetics, CRISPR-Cas9 gene editing, Cultured, mitochondria, Drosophila melanogaster, Drosophila, Female, medicine.symptom, Ataxia, Cells, RNA Splicing, Vision Disorders, Biology, bi-allelic, Article, Frameshift mutation, SDG 3 - Good Health and Well-being, medicine, Animals, Humans, Ketoglutarate Dehydrogenase Complex, Allele, developmental and epileptic encephalopathy, Hearing Loss, Alleles, DEE, Family Health, Epilepsy, Fibroblasts, medicine.disease, OGDHL, neurodevelopmental disease, α-ketoglutarate, exome sequencing, Neurodevelopmental Disorders, Mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcf63fb5388350ffc202a476413c2a9eTest
https://pure.eur.nl/en/publications/320792d0-0dbd-4c19-9cf9-be5e9a1535b8Test

6

Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction

المؤلفون: Liz M. Nouel Saied, Qayum Khan, Louise A. Metherell, Nadia Farooqi, Hamed A. El-Serehy, Suzanne M. Leal, Anushree Acharya, Fazal Jalil, Yasir Ali, Isabelle Schrauwen

المصدر: Genes
Genes, Vol 12, Iss 1915, p 1915 (2021)
Genes; Volume 12; Issue 12; Pages: 1915

مصطلحات موضوعية: Proband, Marfan syndrome, musculoskeletal diseases, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, left ventricular diastolic dysfunction, Adolescent, Fibrillin-1, Diastole, Cardiomyopathy, QH426-470, Article, whole exome sequencing, Marfan Syndrome, symbols.namesake, Ventricular Dysfunction, Left, Internal medicine, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Pakistan, Genetics (clinical), Exome sequencing, Sanger sequencing, business.industry, cardiovascular diseases, dilated cardiomyopathy, Dilated cardiomyopathy, Middle Aged, medicine.disease, Pedigree, Heart failure, Mutation, symbols, Cardiology, Female, business, Cardiomyopathies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093d2306ad0bd7cc74a6f01ebc9716f8Test
http://europepmc.org/articles/PMC8700962Test

7

A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV

المؤلفون: Shabir Hussain, Shoaib Nawaz, Hammal Khan, Anushree Acharya, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

المصدر: Annals of human geneticsREFERENCES. 86(6)

مصطلحات موضوعية: Mutation, Homozygote, Genetics, Humans, Orofaciodigital Syndromes, Genetics (clinical), Ciliopathies, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5f0a68d25b5030bee6ff5a2f464c7edTest
https://pubmed.ncbi.nlm.nih.gov/36039988Test

8

Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm

المؤلفون: Derek Klarin, Lin Chang, Sarah E. Graham, Brooke N. Wolford, Jonathan L. Eliason, Ben Michael Brumpton, Minerva T. Garcia-Barrio, Kristian Hveem, Michael R. Mathis, Santhi K. Ganesh, Gao Wang, Wei Zhou, Maoxuan Lin, Ida Surakka, Saiju Pyarajan, Bo Yang, Dianna M. Milewicz, Jifeng Zhang, Zhenguo Wang, Michael J. Shea, Dongchuan Guo, Anne Heidi Skogholt, Karen Meekyong Kim, Chad M. Brummett, Bjørn Olav Åsvold, Tori L. Melendez, Kim A. Eagle, Bradley Crone, Poornima Devineni, Philip S. Tsao, Whitney E. Hornsby, Haocheng Lu, Y. Eugene Chen, Scott M. Damrauer, Cristen J. Willer, Tanmoy Roychowdhury, Himanshu J. Patel, Suzanne M. Leal, Anoop K Sendamarai, G. Michael Deeb, VA Million Veteran Program

المصدر: Am J Hum Genet

مصطلحات موضوعية: Michigan, Quantitative Trait Loci, Locus (genetics), Genome-wide association study, Type 2 diabetes, Disease, Bioinformatics, Thoracic aortic aneurysm, complex mixtures, Muscle, Smooth, Vascular, Article, parasitic diseases, Genetics, Medicine, Humans, Genetics (clinical), Aorta, Genetic association, bcl-2-Associated X Protein, Aortic Aneurysm, Thoracic, business.industry, Caspase 3, Genome, Human, Endothelial Cells, medicine.disease, digestive system diseases, Introns, Diabetes Mellitus, Type 2, Gene Expression Regulation, Proto-Oncogene Proteins c-bcl-2, Case-Control Studies, Expression quantitative trait loci, Mutation, business, TCF7L2, Transcription Factor 7-Like 2 Protein, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::774b58c739f2f84555c5180c22d79920Test
https://pubmed.ncbi.nlm.nih.gov/34265237Test

9

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

المؤلفون: Imen Chakchouk, Shabir Hussain, Khurram Liaqat, Irfan Ullah, Isabelle Schrauwen, Deborah A. Nickerson, Izoduwa Abbe, Michael J. Bamshad, Kwanghyuk Lee, Wasim Ahmad, Muhammad Ansar, Muhammad Umair, Khadim Shah, Abdul Nasir, Syed Irfan Raza, Anushree Acharya, Suzanne M. Leal

المصدر: Journal of Human Genetics. 64:153-160

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c7e6346d2cb60b3a96d8cf9aac08857Test
https://doi.org/10.1038/s10038-018-0542-8Test

10

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

المصدر: Human Mutation. 40:53-72

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::831ca66fca170b9387b432d0d9e4036dTest
https://doi.org/10.1002/humu.23666Test

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