Volume 33; Issue 6

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Human Mutation
Volume 33; Issue 6

Human Mutation

Volume 33; Issue 6

1

Maps for the world of genomic medicine: The 2011 CSHL Personal Genomes meeting

Xiangqun Zheng-Bradley, Paul Flicek

Journal:

Year:

2012

Language:

english

File:

PDF, 129 KB

english, 2012

2

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia

Rocío Sánchez-Alcudia, Belén Pérez, Magdalena Ugarte, Lourdes R. Desviat

Journal:

Year:

2012

Language:

english

File:

PDF, 345 KB

english, 2012

3

Diagnostic interpretation of array data using public databases and internet sources

Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y. Hehir-Kwa, Nigel P. Carter, Lars Feuk, Helen V. Firth, Robert M. Kuhn, David H. Ledbetter, Christa Lese Martin, Conny M. A. van Ravenswaaij-Arts, Steven W

Journal:

Year:

2012

Language:

english

File:

PDF, 427 KB

english, 2012

4

The introduction of arrays in prenatal diagnosis: A special challenge

Annalisa Vetro, Katelijne Bouman, Ros Hastings, Dominic J. McMullan, Joris R. Vermeesch, Konstantin Miller, Birgit Sikkema-Raddatz, David H. Ledbetter, Orsetta Zuffardi, Conny M.A. van Ravenswaaij-Art

Journal:

Year:

2012

Language:

english

File:

PDF, 169 KB

english, 2012

5

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

Andrea Klein, Suzanne Lillis, Iulia Munteanu, Mariacristina Scoto, Haiyan Zhou, Ros Quinlivan, Volker Straub, Adnan Y. Manzur, Helen Roper, Pierre-Yves Jeannet, Wojtek Rakowicz, David Hilton Jones, Uf

Journal:

Year:

2012

Language:

english

File:

PDF, 326 KB

english, 2012

6

Genome-wide arrays in routine diagnostics of hematological malignancies

Annet Simons, Birgit Sikkema-Raddatz, Nicole de Leeuw, Nicole Claudia Konrad, Rosalind J. Hastings, Jacqueline Schoumans

Journal:

Year:

2012

Language:

english

File:

PDF, 404 KB

english, 2012

7

Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death

John R. Giudicessi, Dan Ye, Chad J. Kritzberger, Vladislav V. Nesterenko, David J. Tester, Charles Antzelevitch, Michael J. Ackerman

Journal:

Year:

2012

Language:

english

File:

PDF, 3.40 MB

english, 2012

8

A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2

Kevin Cheeseman, Etienne Rouleau, Anne Vannier, Aurélie Thomas, Adrien Briaux, Cedrick Lefol, Pierre Walrafen, Aaron Bensimon, Rosette Lidereau, Emmanuel Conseiller, Maurizio Ceppi

Journal:

Year:

2012

Language:

english

File:

PDF, 727 KB

english, 2012

9

Ribo-polymerase chain reaction—A facile method for the preparation of chimeric RNA/DNA applied to DNA sequencing

Florence Mauger, Keith Bauer, Jérémy Semhoun, Thomas W. Myers, David H. Gelfand, Ivo G. Gut

Journal:

Year:

2012

Language:

english

File:

PDF, 303 KB

english, 2012

10

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Elise Schaefer, Hatice Karasoy, Melissa A. Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicola

Journal:

Year:

2012

Language:

english

File:

PDF, 615 KB

english, 2012

11

Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent

Wybo Dondorp, Birgit Sikkema-Raddatz, Christine de Die-Smulders, Guido de Wert

Journal:

Year:

2012

Language:

english

File:

PDF, 159 KB

english, 2012

12

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

Mohammed A. Aldahmesh, Arif O. Khan, Jawahir Y. Mohamed, Mohammed H. Alghamdi, Fowzan S. Alkuraya

Journal:

Year:

2012

Language:

english

File:

PDF, 189 KB

english, 2012

13

Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics

Joris R. Vermeesch, Paul D. Brady, Damien Sanlaville, Klaas Kok, Rosalind J. Hastings

Journal:

Year:

2012

Language:

english

File:

PDF, 455 KB

english, 2012

14

The use of arrays to detect copy-number variations in clinical practice

Birgit Sikkema-Raddatz, Rolf H. Sijmons

Journal:

Year:

2012

Language:

english

File:

PDF, 83 KB

english, 2012

15

NGS catalog: A database of next generation sequencing studies in humans

Junfeng Xia, Qingguo Wang, Peilin Jia, Bing Wang, William Pao, Zhongming Zhao

Journal:

Year:

2012

Language:

english

File:

PDF, 466 KB

english, 2012

16

Retinitis pigmentosa: More genes, more variants, more work

Johan T. den Dunnen

Journal:

Year:

2012

Language:

english

File:

PDF, 84 KB

english, 2012

17

Reading through nonsense as therapy for propionic acidemia?

Brage Storstein Andresen

Journal:

Year:

2012

Language:

english

File:

PDF, 84 KB

english, 2012

18

Next-generation genetic testing for retinitis pigmentosa

Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Ramon A.C. van Huet, Linda Visser, Michael P. Kwint, Sabine J. Gijsen, Marijke N. Zonneveld, Nienke Wieskamp, Joep de Ligt, Anna M. Siemiatkowsk

Journal:

Year:

2012

Language:

english

File:

PDF, 458 KB

english, 2012

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