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Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation

2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada 3 Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, ...
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Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene

Correspondence to Professor Orly Elpeleg, The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel; ...
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Online First

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature ...
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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

6 Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands 7 Department of Medical Genetics, University Medical Center Utrecht ...
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Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder

1 Familial Cancer Unit, South Australian Clinical Genetics Service, Department of Genetic Medicine, Children’s Youth and Women’s Health Service, North Adelaide, Australia 2 Department of Paediatrics, ...
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High rate of mosaicism in individuals with Cornelia de Lange syndrome

3 Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands Correspondence to Dr Raoul C M Hennekam, Department of Pediatrics, Room H7-237, Academic ...
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Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance

1 Department of Gastroenterology & Hepatology, Erasmus MC University Medical Centre, Rotterdam, The Netherlands 2 Department of Pathology, Erasmus MC University Medical Centre, Rotterdam, The ...
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Catalogue of inherited disorders found among the Irish Traveller population

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity ...
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Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence. Short stature is an additional feature of ...
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Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

1 Laboratory of Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, Netherlands 2 Department of Human and Clinical Genetics, Leiden University ...
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Department of Paediatric Immunology, Radboud University Nijmegen Medical Centre, The Netherlands ...
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CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy

2 The National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, Israel Correspondence to Professor Ruti Parvari, Department of Microbiology, Immunology and ...