Volume 5; Issue 2

Molecular Genetics & Genomic Medicine

Volume 5; Issue 2

1

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

Blackburn, Patrick R., Williams, Monique, Cousin, Margot A., Boczek, Nicole J., Beek, Geoffrey J., Lomberk, Gwen A., Urrutia, Raul A., Babovic-Vuksanovic, Dusica, Klee, Eric W.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 835 KB

english, 2017

2

Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene

Sasai, Hideo, Aoyama, Yuka, Otsuka, Hiroki, Abdelkreem, Elsayed, Nakama, Mina, Hori, Tomohiro, Ohnishi, Hidenori, Turner, Lesley, Fukao, Toshiyuki

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 567 KB

english, 2017

3

A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease

Barkhuizen, Melinda, Anderson, David G., van der Westhuizen, Francois H., Grobler, Anne F.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

4

Gene-centric analysis implicates nuclear encoded mitochondrial protein gene variants in migraine susceptibility

Stuart, Shani, Benton, Miles C., Eccles, David A., Sutherland, Heidi G., Haupt, Larisa M., Lea, Rodney A., Griffiths, Lyn R.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 113 KB

english, 2017

5

The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa

Gowans, Lord Jephthah Joojo, Busch, Tamara D., Mossey, Peter A., Eshete, Mekonen A., Adeyemo, Wasiu L., Aregbesola, Babatunde, Donkor, Peter, Arthur, Fareed K. N., Agbenorku, Pius, Olutayo, James, Twu

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 772 KB

english, 2017

6

A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors

Mitra, Amit Kumar, Dodge, Jessica, Van Ness, Jody, Sokeye, Israel, Van Ness, Brian

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 796 KB

english, 2017

7

Genetics and genomic medicine in Indonesia

Ariani, Yulia, Soeharso, Purnomo, Sjarif, Damayanti R.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 519 KB

english, 2017

8

Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients

Wong, Bibiana K. Y., Sutton, Vernon R., Lewis, Richard A., Van den Veyver, Ignatia B.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 81 KB

english, 2017

9

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype

Grandemange, Sylvie, Cabasson, Sébastien, Sarrabay, Guillaume, Pène, Jérôme, Rittore, Cécile, Sanchez, Elodie, Chastang, Marie-Caroline, Guyon, Gaël, Pillet, Pascal, Touitou, Isabelle

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 647 KB

english, 2017

10

Issue Information

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 3.24 MB

english, 2017

11

Building a family network from genetic testing

Leppig, Kathleen A., Thiese, Heidi A., Carrel, David, Crosslin, David R., Dorschner, Michael O., Gordon, Adam S., Hartzler, Andrea, Ralston, James, Scrol, Aaron, Larson, Eric B., Jarvik, Gail P.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 591 KB

english, 2017

12

Discordance in selected designee for return of genomic findings in the event of participant death and estate executor

Goodman, Jessie L., Amendola, Laura M., Horike-Pyne, Martha, Trinidad, Susan B., Fullerton, Stephanie M., Burke, Wylie, Jarvik, Gail P.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 196 KB

english, 2017

13

Genetic contributions to stuttering: the current evidence

Frigerio-Domingues, Carlos, Drayna, Dennis

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 113 KB

english, 2017

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