search for


J Genet Med 2016;13:1-58
Review Article
DNA damage to human genetic disorders with neurodevelopmental defects
Youngsoo Lee, Inseo Choi, Jusik Kim, and and Keeeun Kim
J Genet Med 2016;13:1-13
Original Articles
Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women
Kyung Min Kang, Se Ra Sung, Ji Eun Park, Yun Jeong Shin, Sang Hee Park, Mi Uk Chin, Sang Woo Lyu, Dong Hyun Cha, and Sung Han Shim
J Genet Med 2016;13:14-19
Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea
Jung Yoon Choi, Hyung Ho Yun, and Cha Gon Lee
J Genet Med 2016;13:20-25
Effectiveness of premarital screening program for thalassemia and sickle cell disorders in Ras Al Khaimah, United Arab Emirates
Rasha Aziz Attia Salama, and Abeer Kamal Saleh
J Genet Med 2016;13:26-30
Case Reports
Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR
Hyewon Woo, Jung Min Ko, Choong Ho Shin, and Sei Won Yang
J Genet Med 2016;13:31-35
Two cases of TSC2/PKD1 contiguous gene deletion syndrome
Jihye You, Eungu Kang, Yoonmyung Kim, Beom Hee Lee, Tae-Sung Ko, Gu-Hwan Kim, Jin-Ho Choi, and Han-Wook Yoo
J Genet Med 2016;13:36-40
A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome
Min Ji Park, Dong Hun Lee, Young Lim Shin, and Yong Hee Hong
J Genet Med 2016;13:41-45
A diagnosis of hypochondroplasia by next generation sequencing
Seok Min Ahn, Young Han Kim, Jun Woo Baek, Eun Ju Bae, and Hong Jin Lee
J Genet Med 2016;13:46-50
A family with dynamin 2-related centronuclear myopathy without ocular involvement
Jin-Sung Park, Dae-Seong Kim, and Jin-Hong Shin
J Genet Med 2016;13:51-54
A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members
Yoo Min Kim, and Min Kyu Kim
J Genet Med 2016;13:55-58
The journal of Genetic Medicine (ISO abbreviation: J Genet Med, JGM) was first published in 1997. JGM is a peer reviewed and open-access journal providing up-to-date information relevant to the professions of genetics and medicine. JGM publishes review...
Whole genome sequencing based noninvasive prenatal test
Eun-Hae Cho
Received July 23, 2015; Accepted November 13, 2015.
Validation of fetus aneuploidy in 221 Korean clinical samples using noninvasive chromosome examination: Clinical laboratory improvement amendments-certified noninvasive prenatal test
Min-Jeong Kim, Chang Hyuk Kwon, Dong-In Kim, Hee Su Im, Sungil Park, Ji Ho Kim, Jin-Sik Bae, Myunghee Lee, and Min Seob Lee
Received November 11, 2015; Accepted December 24, 2015.
Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report
Ji Hye Kim, Gun Ho Lee, Dong Hyun Cha, Eun-Hae Cho, and Yong Wook Jung
Received November 6, 2015; Accepted December 10, 2015.

Crossref Similarity Check logo