Mitochondrial replacement therapy: Genetic counselors' experiences, knowledge, and opinions

Valentina Pilipenko , Jesse Slone , Melanie F. Myers , Melanie F. Myers
Journal of Genetic Counseling

2021
The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment.

Will Yarosh , Jessica Monserrate , James Jiayuan Tong , Stephanie Tse
PLOS Genetics 4 ( 1)

87
2008
Current advances in Holt-Oram syndrome

Taosheng Huang
Current Opinion in Pediatrics 14 ( 6) 691 -695

51
2002
Multiple congenital anomalies associated with in utero exposure of phenytoin: Possible hypoxic ischemic mechanism?

Helen M. Lyon , Lewis B. Holmes , Taosheng Huang
Birth Defects Research Part A-clinical and Molecular Teratology 67 ( 12) 993 -996

5
2003
Biparental Inheritance of Mitochondrial DNA in Humans.

Shiyu Luo , C. Alexander Valencia , Jinglan Zhang , Ni-Chung Lee
Proceedings of the National Academy of Sciences of the United States of America 115 ( 51) 13039 -13044

393
2018
Mitochondria and Their Role in Human Reproduction.

Weiwei Zou , Jesse Slone , Yunxia Cao , Taosheng Huang
DNA and Cell Biology 39 ( 8) 1370 -1378

2020
26
2009
Hepatic Ago2-mediated RNA silencing controls energy metabolism linked to AMPK activation and obesity-associated pathophysiology.

Cai Zhang , Joonbae Seo , Kazutoshi Murakami , Esam S. B. Salem
Nature Communications 9 ( 1) 3658

35
2018
A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs.

Taosheng Huang , Ellen R Elias , John B Mulliken , Daniel J Kirse
Genetics in Medicine 1 ( 3) 104 -108

14
1999
Cardiac phenotypes in chromosome 4q− syndrome with and without a deletion of the dHAND gene

Taosheng Huang , Angela E Lin , Gerald F Cox , Wendy L Golden
Genetics in Medicine 4 ( 6) 464 -467

30
2002
Identification of the TBX5 transactivating domain and the nuclear localization signal.

Michael V Zaragoza , Lisa E Lewis , Guifeng Sun , Eric Wang
Gene 330 9 -18

46
2004
Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene.

Taosheng Huang , Jong Dae Whang , Virginia Kimonis
Genetics in Medicine 8 ( 1) 59 -59

5
2006
An Ugo1-like protein is associated with optic atrophy ‘plus’ disorders

Alexander J. Abrams , Robert B. Hufnagel , Adriana Rebelo , Claudia Zanna
Mitochondrion 24

2015
Genetically and metabolically corrected pluripotent stem cells from patients with mtDNA disease

Amy Koski , Hong Ma , Clifford D.L. Folmes , Jun Wu
Mitochondrion 24

2015
The role of mitochondrial-related nuclear genes in age-related common disease.

Huanzheng Li , Jesse Slone , Taosheng Huang
Mitochondrion 53 38 -47

25
2020
Systemic Delivery of AAV-Fdxr Mitigates the Phenotypes of Mitochondrial Disorders in Fdxr Mutant Mice.

Li Yang , Jesse Slone , Weiwei Zou , Luis F. Queme
Molecular therapy. Methods & clinical development 18 84 -97

2020
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

John C. K. Barber , Jill A. Rosenfeld , John M. Graham , Nancy Kramer
American Journal of Medical Genetics Part A 167 ( 9) 2052 -2064

23
2015
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.

Sarah E. Grams , Bob Argiropoulos , Matthew Lines , Pranesh Chakraborty
American Journal of Medical Genetics Part A 170 ( 4) 967 -977

6
2016