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The promise of whole-exome sequencing in medical genetics

Journal of human genetics, 2014-01, Vol.59 (1), p.5-15

2014

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KBG syndrome

Orphanet journal of rare diseases, 2017-12, Vol.12 (1), p.183-183, Article 183

2017

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Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review

Balkan medical journal, 2024-05, Vol.41 (3), p.161-166

2024

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Microstructural Characterization and Hardness Study of Nanostructured CoCrFeNi High Entropy Alloys with Dual Effect of Y and Nano-Sized Y2O3 Additions

Transactions of the Indian Institute of Metals, 2022-09, Vol.75 (9), p.2389-2394

2022

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Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

Cell, 2016-06, Vol.166 (1), p.88-101

2016

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Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

The New England journal of medicine, 2014-03, Vol.370 (10), p.921-931

2014

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Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

PloS one, 2015-11, Vol.10 (11), p.e0142154-e0142154

2015

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Intra-articular administration of extra-virgin olive oil in degenerative osteoarthritis

Journal of orthopaedic surgery and research, 2024-06, Vol.19 (1), p.338-8, Article 338

2024

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Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

Scientific reports, 2023-10, Vol.13 (1), p.17010-17010, Article 17010

2023

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Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function

The Journal of immunology (1950), 2012-10, Vol.189 (8), p.3957-3969

2012

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RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

Genome Biology, 2024-01, Vol.25 (1), p.39-22, Article 39

2024

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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

American journal of human genetics, 2011-08, Vol.89 (2), p.289-294

2011

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Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

Balkan medical journal, 2019-07, Vol.36 (4), p.206-211

2019

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Reply to Teasdale and Collins: N-terminal region of FAM65B bears similarity to the PX–BAR module of SNX33

Proceedings of the National Academy of Sciences - PNAS, 2014-09, Vol.111 (39), p.E4065-E4065

2014

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Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

PloS one, 2012-11, Vol.7 (11), p.e50628-e50628

2012

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6 February 2023, orthopedic experience in Kahramanmaraş earthquake and surgical decision in patients with crush syndrome

Journal of orthopaedic surgery and research, 2023-07, Vol.18 (1), p.537-537, Article 537

2023

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Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

American journal of human genetics, 2008-10, Vol.83 (4), p.511-519

2008

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P254: Exome sequencing as a first-tier approach for rare forms of syndromic hearing loss

Genetics in Medicine Open, 2024, Vol.2, p.101150, Article 101150

2024

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Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2

Otology & neurotology, 2020-06, Vol.41 (5), p.e529

2020

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Reliability evaluation of a system under a mixed shock model

Journal of computational and applied mathematics, 2019-05, Vol.352, p.255-261

2019

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Adams–Oliver syndrome caused by mutations of the EOGT gene

American journal of medical genetics. Part A, 2019-11, Vol.179 (11), p.2246-2251

2019

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The promise of whole-exome sequencing in medical genetics

KBG syndrome

Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review

Microstructural Characterization and Hardness Study of Nanostructured CoCrFeNi High Entropy Alloys with Dual Effect of Y and Nano-Sized Y2O3 Additions

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

Intra-articular administration of extra-virgin olive oil in degenerative osteoarthritis

Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function

RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

Reply to Teasdale and Collins: N-terminal region of FAM65B bears similarity to the PX–BAR module of SNX33

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

6 February 2023, orthopedic experience in Kahramanmaraş earthquake and surgical decision in patients with crush syndrome

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

P254: Exome sequencing as a first-tier approach for rare forms of syndromic hearing loss

Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2

Reliability evaluation of a system under a mixed shock model

Adams–Oliver syndrome caused by mutations of the EOGT gene

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

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