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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Scientific reports, 2019-02, Vol.9 (1), p.1219-1219, Article 1219

2019

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Increasing the complexity: new genes and new types of albinism

Pigment cell and melanoma research, 2014-01, Vol.27 (1), p.11-18

2014

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Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

American journal of human genetics, 2013-03, Vol.92 (3), p.415-421

2013

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Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Clinical epigenetics, 2015-11, Vol.7 (123), p.123-123, Article 123

2015

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Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy

Frontiers in neurology, 2022-12, Vol.13, p.1066040

2022

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Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

Journal of medical genetics, 2023-02, Vol.60 (2), p.128

2023

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Causes of poor eye contact in infants: a population-based study

BMC ophthalmology, 2021-11, Vol.21 (1), p.1-388, Article 388

2021

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A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

Investigative ophthalmology & visual science, 2020-02, Vol.61 (2), p.29-29

2020

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Transient Neonatal Diabetes, ZFP57 , and Hypomethylation of Multiple Imprinted Loci

Diabetes care, 2013-03, Vol.36 (3), p.505-512

2013

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Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database

Human mutation, 2018-03, Vol.39 (3), p.345-364

2018

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Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

Genes, 2020-12, Vol.11 (12), p.1517

2020

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Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2197-2203

2013

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Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

Stem cell research, 2019-12, Vol.41, p.101594-101594, Article 101594

2019

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A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

Neurobiology of aging, 2012, Vol.33 (1), p.208.e1-208.e5

2012

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Oculocutaneous albinism

Orphanet journal of rare diseases, 2007-11, Vol.2 (1), p.43-43, Article 43

2007

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upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts

Clinical genetics, 2020-06, Vol.97 (6), p.902-907

2020

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Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

European journal of medical genetics, 2020-01, Vol.63 (1), p.103632-103632, Article 103632

2020

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Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

Stem cell research, 2018-12, Vol.33, p.46-50

2018

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Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up

Diabetes care, 2013-03, Vol.36 (3), p.505-512

2013

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Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

Stem cell research, 2018-08, Vol.31, p.235-239

2018

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Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes

Human mutation, 2010-04, Vol.31 (4), p.429-436

2010

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Clinical characterization of patients with PRPF31 -related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study

Ophthalmic genetics, 2023-09, Vol.44 (5), p.1-464

2023

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Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

BMC medical genetics, 2016-04, Vol.17 (1), p.29-29, Article 29

2016

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RBP4 -related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations

Ophthalmic genetics, 2022-12, Vol.43 (6), p.876-881

2022

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Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90

BMC medical genetics, 2012-08, Vol.13 (1), p.65-65, Article 65

2012

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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Increasing the complexity: new genes and new types of albinism

Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes

Causes of poor eye contact in infants: a population-based study

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

Transient Neonatal Diabetes, ZFP57 , and Hypomethylation of Multiple Imprinted Loci

Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis

Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant

A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

Oculocutaneous albinism

upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts

Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT

Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes

Clinical characterization of patients with PRPF31 -related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

RBP4 -related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90

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