Shalini S. Nayak - Publications, H-index & Citations

Shalini S. Nayak

Department of Medical Genetics

15H指数

61论文数

763被引数

收录论文 11

发表时间

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders 对常染色体纯合拷贝数缺失的外显子进行系统分析提高了诊断效率并发现了超罕见隐性障碍

European Journal of Human Genetics

IF4.6

2026-06-27

PREAI

Ankur Chaurasia; Anju Shukla; Shruti Pande; Greeshma Purushothama; Akhil Kanathay Ashokan; Purvi Majethia; Namanpreet Kaur; Priyanka Upadhyai; Neha Quadri; Gandham SriLakshmi Bhavani; Dhanya Lakshmi Narayanan; Shalini S. Nayak; Sheela Nampoothiri; Ataf H. Sabir; Alaa A. Mohammed; Sophie Shaw; Verity L. Hartill; Christopher M. Watson; Colin A. Johnson; Afrah Alshammari; Andrew E. Fry; James A. Poulter; William G. Newman; Paul R. Kasher; Siddharth Banka; Katta M. Girisha

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy 扩张型心肌病中肌肉特异性核糖体的致病机制

Nature Cardiovascular Research

IF10.8

2026-01-06

OAAI

Michael R. Murphy; Mythily Ganapathi; Esther R. Rotlevi; Teresa M. Lee; Joshua M. Fisher; Megha V. Patel; Parul Jayakar; Amanda Buchanan; Alyssa L. Rippert; Rebecca C. Ahrens-Nicklas; Divya Nair; Shalini S. Nayak; Aakanksha Anand; Anju Shukla; Rajesh K. Soni; Yue Yin; Feiyue Yang; Enrique J. Garcia; Muredach P. Reilly; Wendy K. Chung; Xuebing Wu

Microscopic anatomy of human fetal precentral cerebral wall in the fetuses of the second trimester 第二 trimester 胎儿前中央脑壁的显微解剖

Translational Research in Anatomy

IF0

2026-01-01

OAAI

Veeresh; Nayak, Shalini S.; Nayak, Deepak; Kausar, Aamna; Hosapatna, Mamatha

The transient external granular layer in human foetal cerebellum: insights into neurogenesis genetic regulation, and developmental disorders 人胎儿小脑的暂时性外部颗粒层：对神经发生遗传调控及发育障碍的见解

ANATOMY & CELL BIOLOGY

IF1.2

2025-12-01

PREAI

Kausar, Aamna; Nayak, Shalini Sanjeeva; Marpalli, Sapna; Veeresh; George, Bincy Muthukattu; Hosapatna, Mamatha

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-12-20

OAAI

Pande, Shruti; Majethia, Purvi; Nair, Karthik; Rao, Lakshmi Priya; Mascarenhas, Selinda; Kaur, Namanpreet; do Rosario, Michelle C.; Neethukrishna, Kausthubham; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Xavier, Sruthy; Kumar, Jeevan; Bhat, Vivekananda; Bhavani, Gandham SriLakshmi; Narayanan, Dhanya Lakshmi; Yatheesha, B. L.; Patil, Siddaramappa J.; Nampoothiri, Sheela; Kamath, Nutan; Aroor, Shrikiran; Bhat, Ramesh Y.; Lewis, Leslie E.; Sharma, Suvasini; Bajaj, Shruti; Sankhyan, Naveen; Siddiqui, Shahyan; Nayak, Shalini S.; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju

Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A

HUMAN MUTATION

IF3.7

2021-06-08

OAAI

Upadhyai, Priyanka; Radhakrishnan, Periyasamy; Guleria, Vishal S.; Kausthubham, Neethukrishna; Nayak, Shalini S.; Superti-Furga, Andrea; Girisha, Katta M.

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-06-01

OAAI

Ziegler, Alban; Duclaux-Loras, Remi; Revenu, Celine; Charbit-Henrion, Fabienne; Begue, Bernadette; Duroure, Karine; Grimaud, Linda; Guihot, Anne Laure; Desquiret-Dumas, Valerie; Zarhrate, Mohammed; Cagnard, Nicolas; Mas, Emmanuel; Breton, Anne; Edouard, Thomas; Billon, Clarisse; Frank, Michael; Colin, Estelle; Lenaers, Guy; Henrion, Daniel; Lyonnet, Stanislas; Faivre, Laurence; Alembik, Yves; Philippe, Anais; Moulin, Bruno; Reinstein, Eyal; Tzur, Shay; Attali, Ruben; McGillivray, George; White, Susan M.; Gallacher, Lyndon; Kutsche, Kerstin; Schneeberger, Pauline; Girisha, Katta M.; Nayak, Shalini S.; Pais, Lynn; Maroofian, Reza; Rad, Aboulfazl; Vona, Barbara; Karimiani, Ehsan Ghayoor; Lekszas, Caroline; Haaf, Thomas; Martin, Ludovic; Ruemmele, Frank; Bonneau, Dominique; Cerf-Bensussan, Nadine; Del Bene, Filippo; Parlato, Marianna

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

SCIENTIFIC REPORTS

IF3.9

2021-01-12

OAAI

Nayak, Shalini S.; Schneeberger, Pauline E.; Patil, Siddaramappa J.; Arun, Karegowda M.; Suresh, Pujar, V; Kiran, Viralam S.; Siddaiah, Sateesh; Maiya, Shreesha; Venkatachalagupta, Shrikanth K.; Kausthubham, Neethukrishna; Kortum, Fanny; Rau, Isabella; Wey-Fabrizius, Alexandra; Van den Heuvel, Lotte; Meester, Josephina; Van Laer, Lut; Shukla, Anju; Loeys, Bart; Girisha, Katta M.; Kutsche, Kerstin

Using the Term Amyoplasia Loosely Can Lead to Confusion Response

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-12-01

OAAI

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.

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

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2020-08-01

OAAI

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.

Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Δ/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II)

EUROPEAN JOURNAL OF ENDOCRINOLOGY

IF5.2

2001-10-01

OAAI

Flück, CE; Deladoëy, J; Nayak, S; Zeller, O; Kopp, P; Mullis, PE

研究方向