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International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...
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Leber hereditary optic neuropathy

Department of Neurology, School of Neurosciences and Psychiatry, The Medical School, University of Newcastle Upon Tyne, UK Correspondence to: Dr P F Chinnery, Department of Neurology, School of ...
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The molecular genetics of Marfan syndrome and related disorders

9 Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 10 Department of Internal Medicine, University of Texas Medical School at Houston, ...
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Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity

Correspondence to Dr Mary Helen Black, Bioinformatics, Ambry Genetics Corp, Aliso Viejo, CA 92656, USA; mblack{at}ambrygen.com Conclusion Our study demonstrates that when used separately or in ...
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Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

9 Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel 10 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Background Constitutional mismatch repair deficiency syndrome ...
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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

1 Institut National de la Santé et de la Recherche Médicale (INSERM) UMR_S933, Université Pierre et Marie Curie (UPMC) - Paris 6; and Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital ...
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Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia

1 Paediatric Neurology Unit, Sheba Medical Centre, Ramat-Gan, Israel 2 Neuroradiology Unit, Sheba Medical Centre, Ramat-Gan, Israel 3 Metabolic-Neurogenetic Clinic, Paediatric Neurology Unit, Wolfson ...
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Prenatal clinical manifestations in individuals with COL4A1/2 variants

Background Variants in the type IV collagen gene ( COL4A1/2 ) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with ...
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Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease

Background GGC repeat expansion in NOTCH2NLC has been recently linked to neuronal intranuclear inclusion disease (NIID) via unknown disease mechanisms. Herein, we explore the genetic origin of the ...
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Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism

1 MD/PhD and Experimental Medicine Programs, University of British Columbia and the British Columbia Research Institute for Children’s and Women’s Health, Vancouver, British Columbia, Canada 2 ...
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Online First

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome ...
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Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)

Correspondence to Dr Katharina Wimmer, Medical University of Innsbruck, Division of Human Genetics, Peter-Mayr-Strasse 1, Innsbruck 6020, Austria; katharina.wimmer{at}i-med.ac.at Due to the ...