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Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

Nature reviews. Genetics, 2019-04, Vol.20 (4), p.235-248

2019

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The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

The Lancet (British edition), 2015-09, Vol.386 (9997), p.957-963

2015

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Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Nature reviews. Endocrinology, 2018-04, Vol.14 (4), p.229-249

2018

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Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

Journal of Medical Genetics, 2014-08, Vol.51 (8), p.495-501

2014

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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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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Nature genetics, 2008-08, Vol.40 (8), p.949-951

2008

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Insights Into the Molecular Mechanism for Type 2 Diabetes Susceptibility at the KCNQ1 Locus From Temporal Changes in Imprinting Status in Human Islets

Diabetes (New York, N.Y.), 2013-03, Vol.62 (3), p.987-992

2013

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Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study

Journal of medical genetics, 2022-06, Vol.59 (6), p.613-622

2022

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Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

Diabetes (New York, N.Y.), 2007-07, Vol.56 (7), p.1930-1937

2007

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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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Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects

American journal of human genetics, 2007-08, Vol.81 (2), p.375-382

2007

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Genome research, 2019-07, Vol.29 (7), p.1057-1066

2019

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Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.170-175

2016

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Mutation of HERC2 causes developmental delay with Angelman-like features

Journal of medical genetics, 2013-02, Vol.50 (2), p.65-73

2013

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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Clinical epigenetics, 2019-12, Vol.11 (1), p.190-190, Article 190

2019

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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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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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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2174-2182

2013

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Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1

European journal of human genetics : EJHG, 2012-02, Vol.20 (2), p.240-243

2012

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DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

European journal of pediatrics, 2010-02, Vol.169 (2), p.207-213

2010

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Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

European journal of human genetics : EJHG, 2015-04, Vol.23 (4), p.494-499

2015

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Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

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

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Insights Into the Molecular Mechanism for Type 2 Diabetes Susceptibility at the KCNQ1 Locus From Temporal Changes in Imprinting Status in Human Islets

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

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

Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

Mutation of HERC2 causes developmental delay with Angelman-like features

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

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

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

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2 H19-imprinting control region, ICR1

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

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