Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

(2018) David Monk et al.   Epigenetics

15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia

(2017) M O Ulfarsson et al.   Translational Psychiatry

A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndrome

(2016) Alice Masurel-Paulet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

(2016) Helena Rocha et al.   European Journal of Medical Genetics

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

(2016) Michael D. Fountain et al.   GENETICS IN MEDICINE

Eight further individuals with intellectual disability and epilepsy carrying bi-allelicCNTNAP2aberrations allow delineation of the mutational and phenotypic spectrum

(2016) Mateja Smogavec et al.   JOURNAL OF MEDICAL GENETICS

Angelman syndrome — insights into a rare neurogenetic disorder

(2016) Karin Buiting et al.   Nature Reviews Neurology

Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes

(2016) Friederike Ehrhart et al.   Orphanet Journal of Rare Diseases

De novo, heterozygous, loss-of-function mutations inSYNGAP1cause a syndromic form of intellectual disability

(2015) Michael J. Parker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population

(2015) Bita Hashemi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

(2015) Clémence Vanlerberghe et al.   European Journal of Medical Genetics

Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: Further delineation of an emerging syndrome

(2014) Michiala Cafferkey et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

If not Angelman, what is it? a review of Angelman-like syndromes

(2014) Wen-Hann Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical utility gene card for: Angelman Syndrome

(2014) Karin Buiting et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical utility gene card for: Prader-Willi Syndrome

(2014) Karin Buiting et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

(2014) Eric Bieth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation Update for UBE3A Variants in Angelman Syndrome

(2014) Bekim Sadikovic et al.   HUMAN MUTATION

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

(2014) Yiannis Ioannides et al.   JOURNAL OF MEDICAL GENETICS

Clinical phenotypes of MAGEL2 mutations and deletions

(2014) Karin Buiting et al.   Orphanet Journal of Rare Diseases

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

(2013) Christian P Schaaf et al.   NATURE GENETICS

Prader-Willi syndrome

(2012) Suzanne B. Cassidy et al.   GENETICS IN MEDICINE

Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

(2012) Martin H. Berryer et al.   HUMAN MUTATION

Minimal genotype-phenotype correlation for small deletions within distal 1p36

(2011) A. Buck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

(2011) Sandra Whalen et al.   HUMAN MUTATION

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

(2010) Simon C Ramsden et al.   BMC Medical Genetics

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

(2009) Bregje WM van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

(2009) A. J. de Smith et al.   HUMAN MOLECULAR GENETICS

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

(2008) Gregor D. Gilfillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

(2008) Cyril Gitiaux et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

(2008) Deniz Kanber et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprintedDLK1/GTL2gene cluster

(2008) Karin Buiting et al.   HUMAN MUTATION

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS