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DNA methylation signature classification of rare disorders using publicly available methylation data

Clinical genetics, 2023-06, Vol.103 (6), p.688-692

2023

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BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells

International journal of molecular sciences, 2021-01, Vol.22 (3), p.1345

2021

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Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

European journal of human genetics : EJHG, 2019-02, Vol.27 (2), p.278-290

2019

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Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy

Frontiers in genetics, 2022-03, Vol.13, p.842092-842092

2022

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Is MED13L-related intellectual disability a recognizable syndrome?

European journal of medical genetics, 2019-02, Vol.62 (2), p.129-136

2019

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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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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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Risks and pregnancy outcome after fetal reduction in dichorionic twin pregnancies: a Danish national retrospective cohort study

American journal of obstetrics and gynecology, 2023-05, Vol.228 (5), p.590.e1-590.e12

2023

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Triple trouble: uncovering the risks and benefits of early fetal reduction in trichorionic triplets in a large national Danish cohort study

American journal of obstetrics and gynecology, 2023-11, Vol.229 (5), p.555.e1-555.e14

2023

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Description of a family with X‐linked oculo‐auriculo‐vertebral spectrum associated with polyalanine tract expansion in ZIC3

Clinical genetics, 2020-10, Vol.98 (4), p.384-389

2020

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5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3844-3850

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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Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

PLoS genetics, 2018-11, Vol.14 (11), p.e1007780-e1007780

2018

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Novel Somatic RET Mutation Questioning the Causality of the RET I852M Germline Sequence Variant in Multiple Endocrine Neoplasia 2A

Thyroid (New York, N.Y.), 2017-08, Vol.27 (8), p.1103-1104

2017

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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients

American journal of medical genetics. Part A, 2008-02, Vol.146A (4), p.517-520

2008

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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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Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

Cold Spring Harbor molecular case studies, 2021-06, Vol.7 (3), p.a005991

2021

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Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark

Journal of genetic counseling, 2017-10, Vol.26 (5), p.1080-1089

2017

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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

American journal of human genetics, 2020-08, Vol.107 (2), p.311-324

2020

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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

American journal of human genetics, 2024-03, Vol.111 (3), p.509-528

2024

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The first Danish patient with a recognisable genetic KBG syndrome

Ugeskrift for læger, 2018-03, Vol.180 (11)

2018

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Hereditary cerebro-oculo-renal syndromes

Ugeskrift for læger, 2014-02, Vol.176 (8A), p.V07130452

2014

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Risk for cancer in patients with Bardet-Biedl syndrome and their relatives

American journal of medical genetics. Part A, 2007-08, Vol.143A (15), p.1699-1702

2007

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5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome

American journal of medical genetics. Part A, 2021, Vol.185 (12), p.3844-3850

2021

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DNA methylation signature classification of rare disorders using publicly available methylation data

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy

Is MED13L-related intellectual disability a recognizable syndrome?

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

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

Risks and pregnancy outcome after fetal reduction in dichorionic twin pregnancies: a Danish national retrospective cohort study

Triple trouble: uncovering the risks and benefits of early fetal reduction in trichorionic triplets in a large national Danish cohort study

Description of a family with X‐linked oculo‐auriculo‐vertebral spectrum associated with polyalanine tract expansion in ZIC3

5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome

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

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

Novel Somatic RET Mutation Questioning the Causality of the RET I852M Germline Sequence Variant in Multiple Endocrine Neoplasia 2A

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients

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

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The first Danish patient with a recognisable genetic KBG syndrome

Hereditary cerebro-oculo-renal syndromes

Risk for cancer in patients with Bardet-Biedl syndrome and their relatives

5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome

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