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This is a list of publications by this organization, listed chronologically starting with the most recent first. The source of publications may be a combination of Scopus and manually entered data from a user. New publications from Scopus appear in this list weekly and publications entered by a user appear instantly. Citation counts start from 1996 and come directly from Scopus.
Xiaonan Du; Yu An; Lifei Yu; Renchao Liu; Yanrong Qin; Xiaohong Guo; Daokan Sun; Shuizhen Zhou; Bailin Wu; Yong-hui Jiang; et al.
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion
T.M. Allen; J. Hersh; K. Schoch; K. Curtiss; S.R. Hooper; V. Shashi
Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome
Matthew Wortham; Changcun Guo; Monica Zhang; Lingyun Song; Bum-Kyu Lee; Vishwanath R. Iyer; Terrence S. Furey; Gregory E. Crawford; Hai Yan; Yiping He
Chromatin accessibility mapping identifies mediators of basal transcription and retinoid-induced repression of OTX2 in medulloblastoma
Dar-Shong Lin; Tzu-Po Chuang; Ming-Fu Chiang; Che-Sheng Ho; Chung-Der Hsiao; Yu-Wen Huang; Tsu-Yen Wu; Jer-Yuarn Wu; Yuan-Tsong Chen; Tsai-Chuan Chen; et al.
De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay
Manolis Kellis; Barbara Wold; Michael P. Snyder; Bradley E. Bernstein; Anshul Kundaje; Georgi K. Marinov; Lucas D. Ward; Ewan Birney; Gregory E. Crawford; Job Dekker; et al.
Defining functional DNA elements in the human genome
Priya S. Kishnani; Stephanie L. Austin; Jose E. Abdenur; Pamela Arn; Deeksha S. Bali; Anne Boney; Wendy K. Chung; Aditi I. Dagli; David Dale; Dwight Koeberl; et al.
Diagnosis and management of glycogen storage disease type I: A practice guideline of the American College of Medical Genetics and Genomics
Li Zhu; Xiaoming Wang; Xin-Lei Li; Aaron Towers; Xinyu Cao; Ping Wang; Rachel Bowman; Hyuna Yang; Jennifer Goldstein; Yi-Ju Li; et al.
Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders
Daniel C. Factor; Olivia Corradin; Gabriel E. Zentner; Alina Saiakhova; Lingyun Song; Josh G. Chenoweth; Ronald D. McKay; Gregory E. Crawford; Peter C. Scacheri; Paul J. Tesar
Epigenomic comparison reveals activation of "seed" enhancers during transition from naive to primed pluripotency
Yong-Hui Jiang; Yi Wang; Xu Xiu; Kwong Wai Choy; Amber Nolen Pursley; Sau W. Cheung
Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era
Priya S. Kishnani; Hernán M. Amartino; Christopher Lindberg; Timothy M. Miller; Amanda Wilson; Joan Keutzer
Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry
J. Gray Camp; Christopher L. Frank; Colin R. Lickwar; Harendra Guturu; Tomas Rube; Aaron M. Wenger; Jenny Chen; Gill Bejerano; Gregory E. Crawford; John F. Rawls
Microbiota modulate transcription in the intestinal epithelium without remodeling the accessible chromatin landscape
Priya S. Kishnani; Alexandra A. Beckemeyer
New therapeutic approaches for Pompe disease: Enzyme replacement therapy and beyond
Jolyon Terragni; Guoqiang Zhang; Zhiyi Sun; Sriharsa Pradhan; Lingyun Song; Gregory E. Crawford; Michelle Lacey; Melanie Ehrlich
Notch signaling genes: Myogenic DNA hypomethylation and 5-hydroxymethylcytosine
I-Wen Song; Wei-Ru Li; Li-Ying Chen; Li-Fen Shen; Kai-Ming Liu; Jeffrey J.Y. Yen; Yi-Ju Chen; Yu-Ju Chen; Virginia Byers Kraus; Jer-Yuarn Wu; et al.
Palmitoyl acyltransferase, Zdhhc13, Facilitates bone mass acquisition by regulating postnatal epiphyseal development and endochondral ossification: A mouse model
Ai-Ru Hsieh; Su-Wei Chang; Pei-Lung Chen; Chen-Chung Chu; Ching-Lin Hsiao; Wei-Shiung Yang; Chien-Ching Chang; Jer-Yuarn Wu; Yuan-Tsong Chen; Tien-Chun Chang; et al.
Predicting HLA genotypes using unphased and flanking single-nucleotide polymorphisms in Han Chinese population
Reply to Brunet and Doolittle: Both selected effect and causal role elements can influence human biology and disease
Xiaoming Wang; Alexandra L. Bey; Leeyup Chung; Andrew D. Krystal; Yong-Hui Jiang
Therapeutic approaches for shankopathies
Xiaoming Wang; Qiong Xu; Alexandra L. Bey; Yoonji Lee; Yong-Hui Jiang
Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice
Deeksha S. Bali; Jennifer L. Goldstein; Keri Fredrickson; Catherine Rehder; Anne Boney; Stephanie Austin; David A. Weinstein; Richard Lutz; Avihu Boneh; Priya S. Kishnani
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene
E.E. Davis; J.H. Savage; J.R. Willer; Y..-H. Jiang; M. Angrist; A. Androutsopoulos; N. Katsanis
Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT