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Identical but not the same: The value of discordant monozygotic twins in genetic research

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-09, Vol.153B (6), p.1134-1149

2010

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A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release

Molecular psychiatry, 2024-02

2024

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Nature genetics, 2009-12, Vol.41 (12), p.1272-1274

2009

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PITX2 and FOXC1 spectrum of mutations in ocular syndromes

European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1224-1233

2012

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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Nature communications, 2020-05, Vol.11 (1), p.2441-2441, Article 2441

2020

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Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

American journal of human genetics, 2020-12, Vol.107 (6), p.1044-1061

2020

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The importance of screening for additional anomalies in patients with anorectal malformations: A retrospective cohort study

Journal of pediatric surgery, 2023-09, Vol.58 (9), p.1699-1707

2023

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Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1276-1286

2019

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Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

Kidney international, 2015-12, Vol.88 (6), p.1402-1410

2015

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Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

Human molecular genetics, 2013-01, Vol.22 (2), p.391-397

2013

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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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The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction-A Retrospective Cohort Study of 112 Patients

Children (Basel), 2022-11, Vol.9 (12), p.1814

2022

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Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

European journal of human genetics : EJHG, 2012-10, Vol.20 (10), p.1024-1031

2012

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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Human genetics, 2019-09, Vol.138 (8-9), p.1051-1069

2019

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Intestinal lymphangiectasia—A novel finding in Van Maldergem syndrome challenging the role of lymphedema for the distinction from Hennekam syndrome

American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1398-1399

2019

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IL-1 Receptor Type 1 Gene-Deficient Mice Demonstrate an Impaired Host Defense Against Pneumococcal Meningitis

The Journal of immunology (1950), 2003-05, Vol.170 (9), p.4724-4730

2003

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First steps in exploring prospective exome sequencing of consanguineous couples

European journal of medical genetics, 2014-11, Vol.57 (11), p.613-616

2014

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Classification for treatment urgency for the microphthalmia/anophthalmia spectrum using clinical and biometrical characteristics

Acta ophthalmologica (Oxford, England), 2020-08, Vol.98 (5), p.514-520

2020

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Chemotactic Factors in Cerebrospinal Fluid during Bacterial Meningitis

Infection and immunity, 2006-03, Vol.74 (3), p.1445-1451

2006

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Experimental Pneumococcal Meningitis in Mice: A Model of Intranasal Infection

The Journal of infectious diseases, 2001-04, Vol.183 (7), p.1143-1146

2001

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C1 Inhibitor Treatment Improves Host Defense in Pneumococcal Meningitis in Rats and Mice

The Journal of infectious diseases, 2007-07, Vol.196 (1), p.115-123

2007

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Identical but not the same: The value of discordant monozygotic twins in genetic research

A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

PITX2 and FOXC1 spectrum of mutations in ocular syndromes

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

The importance of screening for additional anomalies in patients with anorectal malformations: A retrospective cohort study

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

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

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

The Incidence of Associated Anomalies in Children with Congenital Duodenal Obstruction-A Retrospective Cohort Study of 112 Patients

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Intestinal lymphangiectasia—A novel finding in Van Maldergem syndrome challenging the role of lymphedema for the distinction from Hennekam syndrome

IL-1 Receptor Type 1 Gene-Deficient Mice Demonstrate an Impaired Host Defense Against Pneumococcal Meningitis

First steps in exploring prospective exome sequencing of consanguineous couples

Classification for treatment urgency for the microphthalmia/anophthalmia spectrum using clinical and biometrical characteristics

Chemotactic Factors in Cerebrospinal Fluid during Bacterial Meningitis

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Experimental Pneumococcal Meningitis in Mice: A Model of Intranasal Infection

C1 Inhibitor Treatment Improves Host Defense in Pneumococcal Meningitis in Rats and Mice

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