Volume 23; Issue 2

European Journal of Human Genetics

Volume 23; Issue 2

1

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Schepers, Dorien, Doyle, Alexander J, Oswald, Gretchen, Sparks, Elizabeth, Myers, Loretha, Willems, Patrick J, Mansour, Sahar, Simpson, Michael A, Frysira, Helena, Maat-Kievit, Anneke, Van Minkelen, R

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 741 KB

english, 2015

2

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population

Casey, Jillian P, McGettigan, Paul A, Healy, Fiona, Hogg, Claire, Reynolds, Alison, Kennedy, Breandan N, Ennis, Sean, Slattery, Dubhfeasa, Lynch, Sally A

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 982 KB

english, 2015

3

6q22.1 microdeletion and susceptibility to pediatric epilepsy

Szafranski, Przemyslaw, Von Allmen, Gretchen K, Graham, Brett H, Wilfong, Angus A, Kang, Sung-Hae L, Ferreira, Jose A, Upton, Sheila J, Moeschler, John B, Bi, Weimin, Rosenfeld, Jill A, Shaffer, Lisa

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.55 MB

english, 2015

4

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

Seco, Celia Zazo, Oonk, Anne MM, Domínguez-Ruiz, María, Draaisma, Jos MT, Gandía, Marta, Oostrik, Jaap, Neveling, Kornelia, Kunst, Henricus PM, Hoefsloot, Lies H, del Castillo, Ignacio, Pennings, Rona

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.08 MB

english, 2015

5

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

Ercan-Sencicek, A Gulhan, Jambi, Samira, Franjic, Daniel, Nishimura, Sayoko, Li, Mingfeng, El-Fishawy, Paul, Morgan, Thomas M, Sanders, Stephan J, Bilguvar, Kaya, Suri, Mohnish, Johnson, Michele H, Gu

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.53 MB

english, 2015

6

Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP

Cheng, Timothy H T, Gorman, Maggie, Martin, Lynn, Barclay, Ella, Casey, Graham, Newcomb, Polly A, Casey, Graham, Conti, David V, Schumacher, Fred, Gallinger, Steve, Lindor, Noralane M, Hopper, John, J

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 334 KB

english, 2015

7

Machado–Joseph disease in a Nigerian family: mutational origin and review of the literature

Ogun, Shamsideen Abayomi, Martins, Sandra, Adebayo, Philip B, Dawodu, Clara O, Sequeiros, Jorge, Finkel, Michael F

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 168 KB

english, 2015

8

Accuracy of recall of information about a cancer-predisposing BRCA1/2 gene mutation among patients and relatives

Jacobs, Chris, Dancyger, Caroline, Smith, Jonathan A, Michie, Susan

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 232 KB

english, 2015

9

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

Livide, Gabriella, Patriarchi, Tommaso, Amenduni, Mariangela, Amabile, Sonia, Yasui, Dag, Calcagno, Eleonora, Lo Rizzo, Caterina, De Falco, Giulia, Ulivieri, Cristina, Ariani, Francesca, Mari, Frances

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 694 KB

english, 2015

10

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

Beygo, Jasmin, Elbracht, Miriam, de Groot, Karel, Begemann, Matthias, Kanber, Deniz, Platzer, Konrad, Gillessen-Kaesbach, Gabriele, Vierzig, Anne, Green, Andrew, Heller, Raoul, Buiting, Karin, Eggerma

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.32 MB

english, 2015

11

All you ever needed to explain genetics to non-geneticists

Collins, Amanda

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 71 KB

english, 2015

12

The functional polymorphism rs73598374:G>A (p.Asp8Asn) of the ADA gene is associated with telomerase activity and leukocyte telomere length

Concetti, Fabio, Carpi, Francesco M, Nabissi, Massimo, Picciolini, Matteo, Santoni, Giorgio, Napolioni, Valerio

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 526 KB

english, 2015

13

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

Abdulhag, Ulla Najwa, Soiferman, Devorah, Schueler-Furman, Ora, Miller, Chaya, Shaag, Avraham, Elpeleg, Orly, Edvardson, Simon, Saada, Ann

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 914 KB

english, 2015

14

Dynamic consent: a patient interface for twenty-first century research networks

Kaye, Jane, Whitley, Edgar A, Lund, David, Morrison, Michael, Teare, Harriet, Melham, Karen

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 313 KB

english, 2015

15

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

Abdollahpour, Hengameh, Alawi, Malik, Kortüm, Fanny, Beckstette, Michael, Seemanova, Eva, Komárek, Vladimír, Rosenberger, Georg, Kutsche, Kerstin

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 600 KB

english, 2015

16

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

Bieth, Eric, Eddiry, Sanaa, Gaston, Véronique, Lorenzini, Françoise, Buffet, Alexandre, Conte Auriol, Françoise, Molinas, Catherine, Cailley, Dorothée, Rooryck, Caroline, Arveiler, Benoit, Cavaillé, J

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 484 KB

english, 2015

17

Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation

Jaeken, Jaak, Lefeber, Dirk, Matthijs, Gert

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 163 KB

english, 2015

18

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

Renkema, G Herma, Wortmann, Saskia B, Smeets, Roel J, Venselaar, Hanka, Antoine, Marion, Visser, Gepke, Ben-Omran, Tawfeg, van den Heuvel, Lambert P, Timmers, Henri J L M, Smeitink, Jan A, Rodenburg,

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1013 KB

english, 2015

19

The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers

Pereira, Vania, Tomas, Carmen, Sanchez, Juan J, Syndercombe-Court, Denise, Amorim, António, Gusmão, Leonor, Prata, Maria João, Morling, Niels

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.17 MB

english, 2015

20

Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia

Pan, Li-li, Huang, Yuan-mao, Wang, Min, Zhuang, Xiao-e, Luo, Dong-feng, Guo, Shi-cheng, Zhang, Zhi-shun, Huang, Qing, Lin, Sheng-long, Wang, Shao-yuan

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.18 MB

english, 2015

21

A classic textbook which will earn its space on your bookshelf

Collins, Amanda

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 70 KB

english, 2015

22

Test of rare variant association based on affected sib-pairs

Sha, Qiuying, Zhang, Shuanglin

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 475 KB

english, 2015

23

Improving power for robust trans-ethnic meta-analysis of rare and low-frequency variants with a partitioning approach

Zakharov, Sergii, Wang, Xu, Liu, Jianjun, Teo, Yik-Ying

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.00 MB

english, 2015

24

Clinical utility gene card for: Angelman Syndrome

Buiting, Karin, Clayton-Smith, Jill, Driscoll, Daniel J, Gillessen-Kaesbach, Gabriele, Kanber, Deniz, Schwinger, Eberhard, Williams, Charles, Horsthemke, Bernhard

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 162 KB

english, 2015

25

Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS)

Crook, Ashley, Plunkett, Loren, Forrest, Laura E, Hallowell, Nina, Wake, Samantha, Alsop, Kathryn, Gleeson, Margaret, Bowtell, David, Mitchell, Gillian, Young, Mary-Anne

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 362 KB

english, 2015