Dong Li (李东)
University of Pennsylvania
H-index: 42
North America-United States
Top articles of Dong Li (李东)
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report | Neurology: Clinical Practice | Pierre-Louis Lanvin Dong Li Solène Conrad Armelle Magot Xavier Micaelli | 2024/6 |
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome | Proceedings of the National Academy of Sciences | Elise Pisan Chiara De Luca Francesco Brancati Rossana Sanchez Russo Dong Li | 2024/3/19 |
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting … | Pediatric Blood & Cancer | Jeremy M Grenier Alexandra J Borst Sarah E Sheppard Kristen M Snyder Dong Li | 2023 |
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays | European Journal of Human Genetics | Mythily Ganapathi Leticia S Matsuoka Michael March Dong Li Elly Brokamp | 2023/10 |
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders | Nature communications | Carolina Gracia-Diaz Yijing Zhou Qian Yang Reza Maroofian Paula Espana-Bonilla | 2023/7/11 |
Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review | Heidi Schigt Martin Bald Bram CJ van der Eerden Lars Gal Barnabas P Ilenwabor | 2023/9 | |
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA. | American Journal of Medical Genetics Part A | Bede N Nriagu Lydia S Williams Niambi Brewer Lea F Surrey Abhay S Srinivasan | 2024/1 |
Genomic profiling informs diagnoses and treatment in vascular anomalies | Nature Medicine | Dong Li Sarah E Sheppard Michael E March Mark R Battig Lea F Surrey | 2023/6/1 |
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice | Science advances | Sarah E Sheppard Laura Bryant Rochelle N Wickramasekara Courtney Vaccaro Brynn Robertson | 2023/3/10 |
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient | Brain Sciences | Isabella Peixoto de Barcelos Dong Li Deborah Watson Elizabeth M. McCormick Lisa Elden | 2023/8/16 |
COMPOSITIONS AND METHODS FOR THE DIAGNOSIS AND TREATMENT OF LYMPHATIC SYSTEM DISORDERS | 2023/2/16 | ||
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition | JCI insight | Sarah E Sheppard Michael E March Christoph Seiler Leticia S Matsuoka Sophia E Kim | 2023/5/8 |
Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes | Journal of hepatology | Joseph T Glessner Mylarappa B Ningappa Kim A Ngo Maliha Zahid Juhoon So | 2023/12/1 |
DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7. | Genetics in Medicine | Liselot van der Laan Karim Karimi Kathleen Rooney Peter Lauffer Haley McConkey | 2024/3/1 |
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology | Human Genetics and Genomics Advances | Andrew K Sobering Laura M Bryant Dong Li Julie McGaughran Isabelle Maystadt | 2023/1/12 |
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature | American Journal of Medical Genetics Part A | Alanna Strong Soumya Rao Sandra von Hardenberg Dong Li Liza L Cox | 2023/5 |
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features | The Journal of Clinical Investigation | Dong Li Qin Wang Allan Bayat Mark R Battig Yijing Zhou | 2024/1/2 |
Insights Image for" Treatment of severe Kaposiform Lymphangiomatosis positive for NRAS mutation by MEK-inhibition" | Pediatric research | Guy Chowers Gadi Abebe-Campino Hana Golan Asaf Vivante Shoshana Greenberger | 2023/8/7 |
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome | American Journal of Medical Genetics Part A | Dena R Matalon Elizabeth J Bhoj Dong Li Carey McDougall Erica Schindewolf | 2023/1/6 |
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish | Science advances | Victoria Patterson Farid Ullah Laura Bryant Dong Li John N Griffin | 2023/4/26 |
