日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish

进一步阐明导致人类氧化磷酸化缺陷和斑马鱼早期发育异常的MRPS2缺陷

Kandettu, Amoolya; Yeole, Mayuri; Sekar, Hamsini; Garapati, Kishore; Kaur, Namanpreet; Anand, Aakanksha; Hegde, Pranavi; Nair, Karthik; Medishetti, Raghavender; Bhat, Vivekananda; Radhakrishnan, Periyasamy; Mundkur, Suneel C; Shrikiran, Hebbar A; Pandey, Akhilesh; Sevilimedu, Aarti; Chakrabarty, Sanjiban; Shukla, Anju

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities

进一步证据表明,双等位基因NAV3变异与隐性神经发育障碍相关,该障碍伴有畸形、发育迟缓、智力障碍和行为异常。

Kakar, Naseebullah; Mascarenhas, Selinda; Ali, Asmat; Azmatullah; Ijlal Haider, Syed M; Badiger, Vaishnavi Ashok; Ghofrani, Mobina Shadman; Kruse, Nathalie; Hashmi, Sohana Nadeem; Pozojevic, Jelena; Balachandran, Saranya; Toft, Mathias; Malik, Sajid; Händler, Kristian; Fatima, Ambrin; Iqbal, Zafar; Shukla, Anju; Spielmann, Malte; Radhakrishnan, Periyasamy

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

LRRC45 的双等位基因变异会损害纤毛发生并导致严重的神经系统疾病

Radhakrishnan Periyasamy, Quadri Neha, Erger Florian, Fuhrmann Nico, Geist Otilia-Maria, Netzer Christian, Khyriem Ibakordor, Muranjan Mamta, Udani Vrajesh, Yeole Mayuri, Mascarenhas Selinda, Limaye Sanket, Siddiqui Shahyan, Upadhyai Priyanka, Shukla Anju

Biallelic Variant, c.644-13_644-9del in UNC50 Is Associated With Congenital Myasthenia Syndrome

UNC50基因中的双等位基因变异c.644-13_644-9del与先天性重症肌无力综合征相关

Shravya, Mangalore S; Purushothama, Greeshma; Radhakrishnan, Periyasamy; Hebbar, Malavika; Guruvare, Shyamala; Mathew, Mary; Bhavani, Gandham SriLakshmi; Bajaj, Shruti; Girisha, Katta M; Shukla, Anju; Nayak, Shalini S

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome

TOMM7基因中的双等位基因剪接变异c.153-2A>C与莱氏综合征相关

Yeole, Mayuri; Majethia, Purvi; Siddiqui, Shahyan; Girisha, Katta Mohan; Shukla, Anju; Radhakrishnan, Periyasamy; Bhat, Vivekananda

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy

基因组测序能够诊断和治疗SLC5A6神经病变。

Riley, Lisa G; Sabui, Subrata; Said, Hamid M; Niaz, Aram; Girisha, Katta M; Radhakrishnan, Periyasamy; Nampoothiri, Sheela; Yesodharan, Dhanya; Kilo, Tatjana; Smith, Janine; Wong, Rachel S H; Menezes, Manoj P; Gupta, Sachin; Cooper, Sandra T; Balasubramaniam, Shanti

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

碱性螺旋-环-螺旋转录因子BHLHE22的单等位基因和双等位基因变异会导致胼胝体发育不全、智力障碍、肌张力和运动异常等神经发育障碍。

Le, Carolyn; Argilli, Emanuela; George, Elizabeth; Kalaycı, Tuğba; Uyguner, Zehra Oya; Karaman, Birsen; Demirören, Tanju; DiTroia, Stephanie; Heron, Delphine; Sabatier, Isabelle; Rodan, Lance H; Girisha, Katta Mohan; Radhakrishnan, Periyasamy; Saunders, Carol; Sullivan, Bonnie; Fleming, Emily; Alvi, Javeria Raza; Sultan, Tipu; Houlden, Henry; Efthymiou, Stephanie; Sacoto, Maria J Guillen; Goodman, Melanie; Pierron, Lucie; De Sainte-Agathe, Jean-Madeleine; Durr, Alexandra; Sherr, Elliott H

Unlocking the promise of liquid biopsies in precision oncology

释放液体活检在精准肿瘤学中的潜力

Pando-Caciano, Alejandra; Trivedi, Rakesh; Pauwels, Jarne; Nowakowska, Joanna; Cavina, Beatrice; Falkman, Lovisa; Debattista, Jessica; Belényesi, Szilárd-Krisztián; Radhakrishnan, Periyasamy; Molina, Mariano A

[Insulin and mRNA vaccines: Two major discoveries 100 years apart. A question of availability for all countries?]

胰岛素和mRNA疫苗:相隔百年的两项重大发现。能否惠及所有国家?

Chong, Jessica X; Talbot, Jared C; Teets, Emily M; Previs, Samantha; Martin, Brit L; Shively, Kathryn M; Marvin, Colby T; Aylsworth, Arthur S; Saadeh-Haddad, Reem; Schatz, Ulrich A; Inzana, Francesca; Ben-Omran, Tawfeg; Almusafri, Fatima; Al-Mulla, Mariam; Buckingham, Kati J; Harel, Tamar; Mor-Shaked, Hagar; Radhakrishnan, Periyasamy; Girisha, Katta M; Nayak, Shalini S; Shukla, Anju; Dieterich, Klaus; Faure, Julien; Rendu, John; Capri, Yline; Latypova, Xenia; Nickerson, Deborah A; Warshaw, David; Janssen, Paul M; Amacher, Sharon L; Bamshad, Michael J; Benaderette, Serge; Halimi, Serge

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

MYLPF基因突变导致一种新型节段性肌发育不全,表现为远端关节挛缩症。

Chong, Jessica X; Talbot, Jared C; Teets, Emily M; Previs, Samantha; Martin, Brit L; Shively, Kathryn M; Marvin, Colby T; Aylsworth, Arthur S; Saadeh-Haddad, Reem; Schatz, Ulrich A; Inzana, Francesca; Ben-Omran, Tawfeg; Almusafri, Fatima; Al-Mulla, Mariam; Buckingham, Kati J; Harel, Tamar; Mor-Shaked, Hagar; Radhakrishnan, Periyasamy; Girisha, Katta M; Nayak, Shalini S; Shukla, Anju; Dieterich, Klaus; Faure, Julien; Rendu, John; Capri, Yline; Latypova, Xenia; Nickerson, Deborah A; Warshaw, David M; Janssen, Paul M L; Amacher, Sharon L; Bamshad, Michael J