Browsing Harvard Medical School by Keyword "Clinical genetics"

Now showing items 1-6 of 6

    • A 600 kb Deletion Syndrome at 16p11.2 Leads to Energy Imbalance and Neuropsychiatric Disorders 

      Zufferey, Flore; Sherr, Elliott H; Beckmann, Noam D; Hanson, Ellen M.; Maillard, Anne M; Hippolyte, Loyse; Macé, Aurélien; Ferrari, Carina; Kutalik, Zoltán; Andrieux, Joris; Aylward, Elizabeth; Barker, Mandy; Bernier, Raphael; Bouquillon, Sonia; Conus, Philippe; Delobel, Bruno; Faucett, W Andrew; Goin-Kochel, Robin P; Grant, Ellen; Harewood, Louise; Hunter, Jill V; Lebon, Sébastien; Ledbetter, David H; Martin, Christa Lese; Männik, Katrin; Martinet, Danielle; Mukherjee, Pratik; Ramocki, Melissa B; Spence, Sarah J; Steinman, Kyle J; Tjernagel, Jennifer; Spiro, John E; Reymond, Alexandre; Beckmann, Jacques S; Chung, Wendy K; Jacquemont, Sébastien (BMJ Publishing Group, 2012)
      Background: The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective: To define the medical, ...

    • Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement 

      Kim, Juwon; Won, Hong-Hee; Kim, Yoonjung; Choi, Jong Rak; Yu, Nae; Lee, Kyung-A (BMJ Publishing Group, 2015)
      Background: Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients ...

    • Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations 

      Lerner-Ellis, Jordan; Wang, Marina; White, Shana; Lebo, Matthew S (BMJ Publishing Group, 2015)
      Background: The Canadian Open Genetics Repository is a collaborative effort for the collection, storage, sharing and robust analysis of variants reported by medical diagnostics laboratories across Canada. As clinical ...

    • Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy 

      McLaughlin, Heather M; Kelly, Melissa A; Hawley, Pamela P; Darras, Basil T; Funke, Birgit; Picker, Jonathan (BioMed Central, 2013)
      Background: Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy. To date, only ~50 disease-associated ...

    • The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes 

      Waters, Aoife M; Asfahani, Rowan; Carroll, Paula; Bicknell, Louise; Lescai, Francesco; Bright, Alison; Chanudet, Estelle; Brooks, Anthony; Christou-Savina, Sonja; Osman, Guled; Walsh, Patrick; Bacchelli, Chiara; Chapgier, Ariane; Vernay, Bertrand; Bader, David M; Deshpande, Charu; O’ Sullivan, Mary; Ocaka, Louise; Stanescu, Horia; Stewart, Helen S; Hildebrandt, Friedhelm; Otto, Edgar; Johnson, Colin A; Szymanska, Katarzyna; Katsanis, Nicholas; Davis, Erica; Kleta, Robert; Hubank, Mike; Doxsey, Stephen; Jackson, Andrew; Stupka, Elia; Winey, Mark; Beales, Philip L (BMJ Publishing Group, 2015)
      Background: Mutations in microtubule-regulating genes are associated with disorders of neuronal migration and microcephaly. Regulation of centriole length has been shown to underlie the pathogenesis of certain ciliopathy ...

    • Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2 

      Stivaros, Stavros M; Stemmer-Rachamimov, Anat O; Alston, Robert; Plotkin, Scott R; Nadol, Joseph B; Quesnel, Alicia; O'Malley, Jennifer; Whitfield, Gillian A; McCabe, Martin G; Freeman, Simon R; Lloyd, Simon K; Wright, Neville B; Kilday, John-Paul; Kamaly-Asl, Ian D; Mills, Samantha J; Rutherford, Scott A; King, Andrew T; Evans, D Gareth (BMJ Publishing Group, 2015)
      Background: Neurofibromatosis Type 2 (NF2) is a dominantly inherited tumour syndrome with a phenotype which includes bilateral vestibular (eighth cranial nerve) schwannomas. Conventional thinking suggests that these tumours ...