Birmingham Women's and Children's NHS Foundation Trust

Hospital

Location: Birmingham, United Kingdom (GB)

ISNI: 0000000403766175

ROR: https://ror.org/056ajev02

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Publications

(27)

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (2016) Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Al Turki SH, Thienpont B, Mcrae J, et al. Journal article Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy (2015) Haack TB, Staufner C, Koepke MG, Straub BK, Koelker S, Thiel C, Freisinger P, et al. Journal article Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement (2015) Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, De Vries MC, et al. Journal article Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development (2015) Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, et al. Journal article Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome (2014) Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, et al. Journal article Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia (2014) Spurdle AB, Couch FJ, Parsons MT, Mcguffog L, Barrowdale D, Bolla MK, Wang Q, et al. Journal article Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad (2014) Haller F, Moskalev E, Faucz FR, Barthelmeß S, Wiemann S, Bieg M, Assie G, et al. Journal article

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