Volume 52; Issue 8

Journal of Medical Genetics

Volume 52; Issue 8

1

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Coughlin, Curtis R, Scharer, Gunter H, Friederich, Marisa W, Yu, Hung-Chun, Geiger, Elizabeth A, Creadon-Swindell, Geralyn, Collins, Abigail E, Vanlander, Arnaud V, Coster, Rudy Van, Powell, Christoph

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 474 KB

english, 2015

2

A mutation of MET , encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss

Mujtaba, Ghulam, Schultz, Julie M, Imtiaz, Ayesha, Morell, Robert J, Friedman, Thomas B, Naz, Sadaf

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

3

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, L

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.14 MB

english, 2015

4

Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: a cohort study

Harkness, Elaine F, Barrow, Emma, Newton, Katy, Green, Kate, Clancy, Tara, Lalloo, Fiona, Hill, James, Evans, D Gareth

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 297 KB

english, 2015

5

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

Castro-Sánchez, Sheila, Álvarez-Satta, María, Cortón, Marta, Guillén, Encarna, Ayuso, Carmen, Valverde, Diana

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 987 KB

english, 2015

6

Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation

Benusiglio, Patrick R, Colas, Chystelle, Rouleau, Etienne, Uhrhammer, Nancy, Romero, Pierre, Remenieras, Audrey, Moretta, Jessica, Wang, Qing, De Pauw, Antoine, Buecher, Bruno, Stoppa-Lyonnet, Dominiq

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 137 KB

english, 2015

7

Mutations in SLC1A4 , encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Damseh, Nadirah, Simonin, Alexandre, Jalas, Chaim, Picoraro, Joseph A, Shaag, Avraham, Cho, Megan T, Yaacov, Barak, Neidich, Julie, Al-Ashhab, Motee, Juusola, Jane, Bale, Sherri, Telegrafi, Aida, Rett

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 2.57 MB

english, 2015

8

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

Zong, Liang, Guan, Jing, Ealy, Megan, Zhang, Qiujing, Wang, Dayong, Wang, Hongyang, Zhao, Yali, Shen, Zhirong, Campbell, Colleen A, Wang, Fengchao, Yang, Ju, Sun, Wei, Lan, Lan, Ding, Dalian, Xie, Lin

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 613 KB

english, 2015

9

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

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 8.54 MB

english, 2015

10

Streamlining review of research involving humans: Canadian models: Table 1

Zawati, Ma'n H, Junker, Anne, Knoppers, Bartha Maria, Rahimzadeh, Vasiliki

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 444 KB

english, 2015

11

Potential research participants support the return of raw sequence data

Middleton, Anna, Wright, Caroline F, Morley, Katherine I, Bragin, Eugene, Firth, Helen V, Hurles, Matthew E, Parker, Michael

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 463 KB

english, 2015