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Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2248-2260

2016

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Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients

The journal of clinical endocrinology and metabolism, 2018-02, Vol.103 (2), p.415-428

2018

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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Scientific reports, 2023-08, Vol.13 (1), p.12984-12984, Article 12984

2023

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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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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.611-619

2009

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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Translational psychiatry, 2022-10, Vol.12 (1), p.421-421, Article 421

2022

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CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2681-2693

2016

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Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

European journal of human genetics : EJHG, 2009-12, Vol.17 (12), p.1625-1634

2009

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Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

Clinical cancer research, 2017-07, Vol.23 (13), p.e115-e122

2017

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High rate of mosaicism in individuals with Cornelia de Lange syndrome

Journal of medical genetics, 2013-05, Vol.50 (5), p.339-344

2013

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Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS)

Journal of allergy and clinical immunology, 2022-03, Vol.149 (3), p.1120-1127.e8

2022

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Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

European journal of human genetics : EJHG, 2023-06, Vol.31 (6), p.615-616

2023

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Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

Genetics in medicine, 2019-08, Vol.21 (8), p.1808-1820

2019

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The important role of RPS14, RPL5 and MDM2 in TP53-associated ribosome stress in mycophenolic acid-induced microtia

International journal of pediatric otorhinolaryngology, 2021-12, Vol.151, p.110916-110916, Article 110916

2021

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

American journal of human genetics, 2021-05, Vol.108 (5), p.951-961

2021

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The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis

The journal of clinical endocrinology and metabolism, 2011-02, Vol.96 (2), p.E356-E359

2011

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Evaluating International Diagnostic, Screening, and Monitoring Practices for Craniofacial Microsomia and Microtia: A Survey Study

The Cleft palate-craniofacial journal, 2023-09, Vol.60 (9), p.1118-1127

2023

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Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease

Gastroenterology (New York, N.Y. 1943), 2018-07, Vol.155 (1), p.118-129.e6

2018

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Further delineation of Malan syndrome

Human mutation, 2018-09, Vol.39 (9), p.1226-1237

2018

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Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Human mutation, 2019-12, Vol.40 (12), p.2270-2285

2019

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Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study

Human reproduction (Oxford), 2007-09, Vol.22 (9), p.2476-2480

2007

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Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

High rate of mosaicism in individuals with Cornelia de Lange syndrome

Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS)

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

The important role of RPS14, RPL5 and MDM2 in TP53-associated ribosome stress in mycophenolic acid-induced microtia

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis

Evaluating International Diagnostic, Screening, and Monitoring Practices for Craniofacial Microsomia and Microtia: A Survey Study

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease

Further delineation of Malan syndrome

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study

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