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Improving diagnostics of rare genetic diseases with NGS approaches

Journal of community genetics, 2021-04, Vol.12 (2), p.247-256

2021

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Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss

PloS one, 2018-01, Vol.13 (1), p.e0188578-e0188578

2018

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Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO -associated X-linked syndromic intellectual developmental disorder

Frontiers in genetics, 2023-07, Vol.14, p.1167054

2023

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Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Human genetics, 2021-04, Vol.140 (4), p.579-592

2021

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A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study

PloS one, 2023-12, Vol.18 (12), p.e0294969-e0294969

2023

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Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation

Genetics in medicine, 2016-11, Vol.18 (11), p.1102-1110

2016

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Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.143-156

2011

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Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.628-628

2022

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Preimplantation genetic diagnosis

Zdravniški vestnik (Ljubljana, Slovenia : 1992), 2013-02, Vol.82 (2)

Karin Writzl

2013

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Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases

Frontiers in genetics, 2021-06, Vol.12

2021

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End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome

Therapeutic apheresis and dialysis, 2016-06, Vol.20 (3), p.318-321

2016

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The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.493-495

2022

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Preceding Head Trauma in Four Cases of Sporadic Cerebral Amyloid Angiopathy – Case Report Series

Journal of stroke and cerebrovascular diseases, 2022-02, Vol.31 (2), p.106260-106260, Article 106260

2022

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Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort Study

Journal of cardiovascular translational research, 2024-08

2024

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Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'

European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.279-281

2023

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Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'

European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.368-368

2023

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De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

American journal of human genetics, 2017-11, Vol.101 (5), p.844-855

2017

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Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients

Clinical genetics, 2024-06

2024

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Preimplantation genetic diagnosis

Zdravniški vestnik (Ljubljana, Slovenia : 1992), 2013-02, Vol.82 (2)

Writzl, Karin

2013

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Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection?

Clinical dysmorphology, 2017-07, Vol.26 (3), p.185

2017

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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

American journal of human genetics, 2023-08, Vol.110 (8), p.1356-1376

2023

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Clinical utility of array comparative genomic hybridisation in prenatal setting

BMC medical genetics, 2016-11, Vol.17 (1), p.81-81, Article 81

2016

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6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1682-1685

2013

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Improving diagnostics of rare genetic diseases with NGS approaches

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO -associated X-linked syndromic intellectual developmental disorder

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

Preimplantation genetic diagnosis

Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases

End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

Preceding Head Trauma in Four Cases of Sporadic Cerebral Amyloid Angiopathy – Case Report Series

Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort Study

Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'

Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise

Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients

Preimplantation genetic diagnosis

Co-occurrence of rhabdomyosarcoma and Mowat-Wilson syndrome: is there a connection?

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Clinical utility of array comparative genomic hybridisation in prenatal setting

6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

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