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

367. DISCOVERING MARKERS OF INTRON RETENTION IN DEPRESSION AND ITS RESPONSE TO KETAMINE

367. 发现抑郁症中内含子保留的标志物及其对氯胺酮的反应

Singh, Swati; Nampoothiri, Sheela; Narayanan, Dhanya Lakshmi; Chaudhry, Chakshu; Salvankar, Sandesh; Girisha, Katta M; Okada, N

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia

248名印度骨骼发育不良患者的遗传和等位基因异质性

Jacob, Prince; Singh, Swati; Bhavani, Gandham SriLakshmi; Gowrishankar, Kalpana; Narayanan, Dhanya Lakshmi; Nampoothiri, Sheela; Patil, S J; Soni, J P; Muranjan, Mamta; Kapoor, Seema; Dhingra, Bhavna; Bhat, Ballambattu Vishnu; Bajaj, Shruti; Banerjee, Amrita; Mamadapur, Mahabaleshwar; Hariharan, Sankar V; Kamath, Nutan; Shenoy, Rathika D; Suri, Deepti; Shukla, Anju; Dalal, Ashwin; Phadke, Shubha R; Nishimura, Gen; Mortier, Geert; Shah, Hitesh; Girisha, Katta M

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes

新型双等位基因COL25A1变异体拓宽了临床表现谱,从先天性颅神经支配障碍到胎儿致死表型。

Harms, Frederike L; Müller, Christian; Kortüm, Fanny; Hempel, Maja; Alawi, Malik; Zaki, Maha S; Elhossini, Rasha M; Abdel-Hamid, Mohamed S; AlAbdi, Lama; Alkuraya, Fowzan S; Kurdi, Wesam; Celse, Tristan; Spodenkiewicz, Marta; Laurens, Tiphany; Dieterich, Klaus; Jagadeesh, Sujatha; Salvankar, Sandesh; Girisha, Katta M; Kutsche, Kerstin

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome

对患有科内莉亚·德·兰格综合征的“突变阴性”个体进行全基因组测序

Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L; D'Souza, Elston N; Barnett, Christopher; Wilkie, Andrew O M; Barnicoat, Angela; Patel, Chirag V; Sukarova-Angelovska, Elena; Girisha, Katta M; Firth, Helen V; Prescott, Katrina; Wilson, Louise C; McEntagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T; Lam, Wayne K; Sisodiya, Sanjay M; Green, Andrew J; Poke, Gemma; Whiffin, Nicola; FitzPatrick, David R; Meynert, Alison

Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence

AGRN基因双等位基因变异与反复流产和胎儿运动不能畸形序列家族相关

Shravya, Mangalore S; Chaurasia, Ankur; Girisha, Katta M; Nayak, Shalini S

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

TREX四聚体破坏会改变THOC6智力障碍综合征中皮质发育所必需的RNA加工过程。

Elizabeth A Werren,Geneva R LaForce,Anshika Srivastava,Delia R Perillo,Shaokun Li,Katherine Johnson,Safa Baris,Brandon Berger,Samantha L Regan,Christian D Pfennig,Sonja de Munnik,Rolph Pfundt,Malavika Hebbar,Raúl Jimenez-Heredia,Elif Karakoc-Aydiner,Ahmet Ozen,Jasmin Dmytrus,Ana Krolo,Ken Corning,E J Prijoles,Raymond J Louie,Robert Roger Lebel,Thuy-Linh Le,Jeanne Amiel,Christopher T Gordon,Kaan Boztug ,Katta M Girisha,Anju Shukla,Stephanie L Bielas,Ashleigh E Schaffer

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

Overcoming barriers to equitable genomic healthcare

克服实现公平基因组医疗保健的障碍

Girisha, Katta M

Genomic testing in Low- and Middle-Income Countries (LMIC)

低收入和中等收入国家(LMIC)的基因组检测

Girisha, Katta M; Moosa, Shahida

Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome

13名患有弯指-关节病-髋内翻-心包炎综合征的印度人

Singh, Swati; Badiger, Vaishnavi Ashok; Balan, Suma; Nampoothiri, Sheela; Rao, Anand Prahalad; Shah, Hitesh; Bhavani, Gandham SriLakshmi; Narayanan, Dhanya Lakshmi; Girisha, Katta M