GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome von Doherty, Dan, Chudley, Albert E., Coghlan, Gail, Ishak, Gisele E., Innes, A. Micheil, Lemire, Edmond G., Rogers, R. Curtis, Mhanni, Aizeddin A., Phelps, Ian G., Jones, Steven J.M., Zhan, Shing H., Fejes, Anthony P., Shahin, Hashem, Kanaan, Moien, Akay, Hatice, Tekin, Mustafa, Triggs-Raine, Barbara, Zelinski, Teresa

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A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population von Lamont, Ryan E., Beaulieu, Chandree L., Bernier, Francois P., Sparkes, Rebecca, Innes, A. Micheil, Jackel‐Cram, Candice, Ober, Carole, Parboosingh, Jillian S., Lemire, Edmond G.

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Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series von Bygarski, Elizabeth, Paterson, Melanie, Lemire, Edmond G

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Family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutation von Metcalfe, KA, Foulkes, WD, Kim-Sing, C, Ainsworth, P, Rosen, B, Armel, S, Poll, A, Eisen, A, Gilchrist, D, Chudley, A, Ghadirian, P, Maugard, C, Lemire, EG, Sun, P, Narod, SA

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Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis von Chibbar, Rajni, Shih, Francis, Baga, Monica, Torlakovic, Emina, Ramlall, Kumar, Skomro, Robert, Cockcroft, Donald W, Lemire, Edmond G

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Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome von Lynch, Danielle C., Revil, Timothée, Schwartzentruber, Jeremy, Bhoj, Elizabeth J., Innes, A. Micheil, Lamont, Ryan E., Lemire, Edmond G., Chodirker, Bernard N., Taylor, Juliet P., Zackai, Elaine H., McLeod, D. Ross, Kirk, Edwin P., Hoover-Fong, Julie, Fleming, Leah, Savarirayan, Ravi, Majewski, Jacek, Jerome-Majewska, Loydie A., Parboosingh, Jillian S., Bernier, Francois P.

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Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia von Abdalla, Salma A., Cymerman, Urszula, Rushlow, Diane, Chen, Ning, Stoeber, Gwendolyn P., Lemire, Edmond G., Letarte, Michelle

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A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome von Zarrei, Mehdi, Merico, Daniele, Kellam, Barbara, Engchuan, Worrawat, Scriver, Tara, Jokhan, Rikash, Wilson, Michael D., Parr, Jeremy, Lemire, Edmond G., Stavropoulos, Dimitri J., Scherer, Stephen W.

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Father-to-son transmission of an X-linked gene: A case of paternal sex chromosome heterodisomy von Ferrier, R.A., Lowry, R.B., Lemire, E.G., Stoeber, G.P., Howard, J., Parboosingh, J.S.

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Familial interstitial pulmonary fibrosis: a large family with atypical clinical features von Chibbar, Ranji, Gjevre, John A, Shih, Francis, Neufeld, Heather, Lemire, Edmond G, Fladeland, Derek A, Cockcroft, Donald W

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Neuroimaging and Neurophysiology Studies in Carriers of Cree Leukoencephalopathy von Huntsman, R. J., Lemire, E. G., Voll, C. L., Wiebe, S., Lowry, N. J.

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Congenital anterolateral tibial bowing and polydactyly: a case report von Lemire, Edmond G

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An Acute Encephalopathy Accelerated by a Large Amount of Milk Consumption von Moien-Afshari, F., Mirhosseini, N.Z., Lemire, E.G., Voll, C.L.

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Leri-Weill dyschondrosteosis: An under-recognised cause of short stature von Lemire, E G, Wiebe, S

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Response to correspondence of NDUFS4‐related Leigh syndrome in Hutterites von Lamont, Ryan E., Beaulieu, Chandree L., Bernier, Francois P., Sparkes, Rebecca, Innes, A. Micheil, Jackel‐Cram, Candice, Ober, Carole, Parboosingh, Jillian S., Lemire, Edmond G.

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Sotos syndrome: Antenatal presentation von Thomas, Aidan, Lemire, Edmond G.

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Perinatal and childhood morbidity and mortality in congenital analbuminemia von Toye, Jennifer M, Lemire, Edmond G, Baerg, Krista L

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Hereditary nonpolyposis colon cancer von Lemire, E G

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Clinical and radiologic findings in an adult male with dysosteosclerosis von Lemire, Edmond G., Wiebe, Sheldon

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A novel keratin 10 gene mutation causing epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) in a term neonate von Pegu, Satyaranjan, Bodani, Jaya. P., Lemire, Edmond G., Holfeld, Karen I.

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