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Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

Epilepsia (Copenhagen), 2020-11, Vol.61 (11), p.2486-2499

2020

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Further evidence for specific IFIH1 mutation as a cause of Singleton–Merten syndrome with phenotypic heterogeneity

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1396-1399

2017

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Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population‐based study

Epilepsia (Copenhagen), 2022-08, Vol.63 (8), p.2096-2107

2022

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Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects

European journal of paediatric neurology, 2021-01, Vol.30, p.71-81

2021

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Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

Clinical genetics, 2018-12, Vol.94 (6), p.528-537

2018

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Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1177-1189

2020

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HLA Polymorphism in Regressive and Non‐Regressive Autism: A Preliminary Study

Autism research, 2020-02, Vol.13 (2), p.182-186

2020

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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1722-1740

2023

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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

PloS one, 2020-02, Vol.15 (2), p.e0228622

2020

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Benign paroxysmal torticollis of infancy does not lead to neurological sequelae

Developmental medicine and child neurology, 2018-12, Vol.60 (12), p.1251-1255

2018

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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

International journal of molecular sciences, 2022-07, Vol.23 (14), p.8001

2022

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Presynaptic dysfunction in CASK-related neurodevelopmental disorders

Translational psychiatry, 2020-09, Vol.10 (1), p.312-312, Article 312

2020

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Nature genetics, 2006-09, Vol.38 (9), p.999-1001

2006

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Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

European journal of medical genetics, 2023-07, Vol.66 (7), p.104773-104773, Article 104773

2023

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Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

Molecular autism, 2018-01, Vol.9 (1), p.1-1, Article 1

2018

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The Roots of Autism and ADHD Twin Study in Sweden (RATSS)

Twin research and human genetics, 2014-06, Vol.17 (3), p.164-176

2014

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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36

PloS one, 2014-01, Vol.9 (1), p.e85600

2014

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Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

Journal of allergy and clinical immunology, 2018-01, Vol.141 (1), p.408-411.e8

2018

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Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-03, Vol.156B (2), p.115-124

2011

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Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

Stem cell research, 2019-08, Vol.39, p.101518-101518, Article 101518

2019

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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

Frontiers in neurology, 2023, Vol.14, p.1170005-1170005

2023

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Minor physical anomalies in neurodevelopmental disorders: a twin study

Child and adolescent psychiatry and mental health, 2017-11, Vol.11 (1), p.57-57, Article 57

2017

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Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Further evidence for specific IFIH1 mutation as a cause of Singleton–Merten syndrome with phenotypic heterogeneity

Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population‐based study

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders

HLA Polymorphism in Regressive and Non‐Regressive Autism: A Preliminary Study

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

Benign paroxysmal torticollis of infancy does not lead to neurological sequelae

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

Presynaptic dysfunction in CASK-related neurodevelopmental disorders

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis

The Roots of Autism and ADHD Twin Study in Sweden (RATSS)

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

Minor physical anomalies in neurodevelopmental disorders: a twin study

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