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2024	A novel preimplantation genetic testing strategy for a subtelomeric genetic disorder: A case study Genes & Diseases Songchang Chen, Li Wang, Luting Chen, Weihui Shi, Junyu Zhang, Yuting Hu, Yinyu Wang, Li Jin, Jianzhong Sheng, Feng Zhang, Yanting Wu, Hefeng Huang, Chenming Xu
2024	Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases Frontiers in Genetics Yanan Wang, Yuqiong Chai, Jieqiong Wang, Mingya Gao, Weiwei Zang, Yujie Chang
2024	Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias Clinical Genetics Naseebullah Kakar, Fazal ur Rehman, Ramandeep Kaur, Gandham SriLakshmi Bhavani, Manisha Goyal, Hitesh Shah, Karandeep Kaur, Kushaljit Singh Sodhi, Christian Kubisch, Guntram Borck, Inusha Panigrahi, Katta Mohan Girisha, Uwe Kornak, Malte Spielmann
2023	Facilitating the transition from paediatric to adult care in endocrinology: a focus on growth disorders Current Opinion in Endocrinology, Diabetes & Obesity Janaki D. Vakharia, Takara L. Stanley
2022	Clinical impact of variants in non-coding regions of SHOX – Current knowledge Gene Zuzana Spurna, Pavlina Capkova, Josef Srovnal, Jana Duchoslavova, Lucia Punova, Darina Aleksijevic, Radek Vrtel
2022	SHOX far‐downstream deletion in a patient with nonsyndromic short stature American Journal of Medical Genetics Part A Maki Fukami, Junya Shindo, Tsutomu Ogata, Ikuko Kageyama, Tsutomu Kamimaki
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