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Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.412-412, Article 412

2021

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Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.59-59, Article 59

2022

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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

PloS one, 2021-02, Vol.16 (2), p.e0245681-e0245681

2021

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Solanidine is a sensitive and specific dietary biomarker for CYP2D6 activity

Human genomics, 2024-02, Vol.18 (1), p.11-11, Article 11

2024

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

BMC cardiovascular disorders, 2021-03, Vol.21 (1), p.126-126, Article 126

2021

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GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy

Frontiers in genetics, 2021-11, Vol.12, p.786705-786705

2021

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CYP3A53 and POR28 genetic variants influence the required dose of tacrolimus in heart transplant recipients

Therapeutic drug monitoring, 2014-12, Vol.36 (6), p.710

2014

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CYP2D6 genotyping by a multiplex primer extension reaction

Clinical chemistry (Baltimore, Md.), 2005-07, Vol.51 (7), p.1291-1295

2005

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Influence of CYP3A5 genetic variation on everolimus maintenance dosing after cardiac transplantation

Clinical transplantation, 2015-12, Vol.29 (12), p.1213-1220

2015

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A new DPYD genotyping assay for improving the safety of 5-fluorouracil therapy

Clinica chimica acta, 2012-12, Vol.414, p.109-111

2012

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CYP2D6 polymorphisms and codeine analgesia in postpartum pain management: a pilot study

Therapeutic drug monitoring, 2011-08, Vol.33 (4), p.425

2011

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CYP2D6 and CYP2C19 genotypes and amitriptyline metabolite ratios in a series of medicolegal autopsies

Forensic science international, 2006-05, Vol.158 (2), p.177-183

2006

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Inhibition of Efflux Transporters by Poly ADP-ribose Polymerase (PARP) Inhibitors

Basic & clinical pharmacology & toxicology, 2023-10, Vol.133 (4), p.428-436

2023

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Life-threatening adverse events following therapeutic opioid administration in adults: is pharmacogenetic analysis useful?

Pain research & management, 2013, Vol.18 (3), p.133-136

2013

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Molecular diversity at the CYP2D6 locus in the Mediterranean region

European journal of human genetics : EJHG, 2004-11, Vol.12 (11), p.916-924

2004

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CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure

Pharmacogenetics and genomics, 2007-02, Vol.17 (2), p.93-101

2007

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eP345 - Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions

Molecular genetics and metabolism, 2021-04, Vol.132, p.S221-S221

2021

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eP346 - Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias

Molecular genetics and metabolism, 2021-04, Vol.132, p.S221-S222

2021

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Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions

Molecular genetics and metabolism, 2021-04, Vol.132, p.S221

2021

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Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias

Molecular genetics and metabolism, 2021-04, Vol.132, p.S221-S222

2021

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Polymorphisms in MIR27A Associated with Early-Onset Toxicity in Fluoropyrimidine-Based Chemotherapy

Clinical cancer research, 2015-05, Vol.21 (9), p.2038-2044

2015

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Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing

Molecular genetics and metabolism, 2021-04, Vol.132, p.S229

2021

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Retrospective review of genetic testing for inherited bone marrow failure syndromes

Molecular genetics and metabolism, 2021-04, Vol.132, p.S233-S234

2021

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eP363 - Retrospective review of genetic testing for inherited bone marrow failure syndromes

Molecular genetics and metabolism, 2021-04, Vol.132, p.S233-S234

2021

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eP353 - Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing

Molecular genetics and metabolism, 2021-04, Vol.132, p.S229-S229

2021

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Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

Solanidine is a sensitive and specific dietary biomarker for CYP2D6 activity

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy

CYP3A53 and POR28 genetic variants influence the required dose of tacrolimus in heart transplant recipients

CYP2D6 genotyping by a multiplex primer extension reaction

Influence of CYP3A5 genetic variation on everolimus maintenance dosing after cardiac transplantation

A new DPYD genotyping assay for improving the safety of 5-fluorouracil therapy

CYP2D6 polymorphisms and codeine analgesia in postpartum pain management: a pilot study

CYP2D6 and CYP2C19 genotypes and amitriptyline metabolite ratios in a series of medicolegal autopsies

Inhibition of Efflux Transporters by Poly ADP-ribose Polymerase (PARP) Inhibitors

Life-threatening adverse events following therapeutic opioid administration in adults: is pharmacogenetic analysis useful?

Molecular diversity at the CYP2D6 locus in the Mediterranean region

CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure

eP345 - Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions

eP346 - Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias

Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions

Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias

Polymorphisms in MIR27A Associated with Early-Onset Toxicity in Fluoropyrimidine-Based Chemotherapy

Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing

Retrospective review of genetic testing for inherited bone marrow failure syndromes

eP363 - Retrospective review of genetic testing for inherited bone marrow failure syndromes

eP353 - Retrospective review of mitochondrial genome analysis in over 7000 patients using clinical grade mtDNA sequencing

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