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  1. Article

    Open Access

    Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

    O1 Regulation of genes by telomere length over long distances

    Jerry W. Shay, Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer in BMC Genomics (2016)

  2. Article

    Open Access

    Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

    A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting a gene or multiple genes will manifest as disease. Increasing recognition of gene dosage effects in neurodevelopment...

    Mohammed Uddin, Giovanna Pellecchia, Bhooma Thiruvahindrapuram in Scientific Reports (2016)

  3. Article

    Open Access

    Clinically relevant copy number variations detected in cerebral palsy

    Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age of onset, frequently accompanied by co-morbidities. The cau...

    Maryam Oskoui, Matthew J. Gazzellone, Bhooma Thiruvahindrapuram in Nature Communications (2015)

  4. No Access

    Article

    A copy number variation map of the human genome

  5. The copy number variation (CNV) map of the human genome documents the extent and characteristics of CNV among healthy populations.

  6. ...

    Mehdi Zarrei, Jeffrey R. MacDonald, Daniele Merico in Nature Reviews Genetics (2015)

  7. No Access

    Article

    Whole-genome sequencing of quartet families with autism spectrum disorder

    Whole-genome sequencing of 85 families with two affected siblings reveals considerable genetic heterogeneity in autism spectrum disorder.

    Ryan K C Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, Susan Walker in Nature Medicine (2015)

  8. No Access

    Article

    Gagea robusta (Liliaceae), a new species from Flora Iranica area

    A new species, endemic to the Flora Iranica area, Gagea robusta (Liliaceae) is described and illustrated. It differs from G. reticulata (Pall.) Schult. & Schult. f. in having a puberulent indumentum on the basal ...

    Mehdi Zarrei, Paul Wilkin, Martin J. Ingrouille, Mark W. Chase in Kew Bulletin (2010)

  9. No Access

    Article

    Gagea calcicola (Liliaceae), a new species from southwestern Iran

    A new species, Gagea calcicola (Liliaceae) is described and illustrated. It differs from G. reticulata (Pall.) Schult. & Schult. f. through having a compound umbelliform inflorescence and bulbils in the axil of t...

    Mehdi Zarrei, Paul Wilkin, Martin Ingrouille, Mark W. Chase in Kew Bulletin (2010)

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