Anju Shukla

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 51

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Nature communications

Brain : a journal of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A (2024)
Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan, Vivekananda Bhat, Shalini S Nayak, Karthik Vijay Nair, Adarsh Pooradan Prasannakumar, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat, Shrikiran Aroor, Leslie Lewis, Jayashree Purkayastha, Y Ramesh Bhat, B K Praveen, B L Yatheesha, Siddaramappa Jagdish Patil, Sheela Nampoothiri, Nutan Kamath, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Suvasini Sharma, Anju Shukla
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications. Clinical genetics 105 (6) (2024)
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 Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan, Vivekananda Bhat, Shalini S Nayak, Karthik Vijay Nair, Adarsh Pooradan Prasannakumar, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat, Shrikiran Aroor, Leslie Lewis, Jayashree Purkayastha, Y Ramesh Bhat, B K Praveen, B L Yatheesha, Siddaramappa Jagdish Patil, Sheela Nampoothiri, Nutan Kamath, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Suvasini Sharma, Anju Shukla
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications. Clinical genetics 105 (6) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
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 Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan, Vivekananda Bhat, Shalini S Nayak, Karthik Vijay Nair, Adarsh Pooradan Prasannakumar, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat, Shrikiran Aroor, Leslie Lewis, Jayashree Purkayastha, Y Ramesh Bhat, B K Praveen, B L Yatheesha, Siddaramappa Jagdish Patil, Sheela Nampoothiri, Nutan Kamath, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Suvasini Sharma, Anju Shukla
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications. Clinical genetics (2024)
Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan, Vivekananda Bhat, Shalini S Nayak, Karthik Vijay Nair, Adarsh Pooradan Prasannakumar, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat, Shrikiran Aroor, Leslie Lewis, Jayashree Purkayastha, Y Ramesh Bhat, B K Praveen, B L Yatheesha, Siddaramappa Jagdish Patil, Sheela Nampoothiri, Nutan Kamath, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Suvasini Sharma, Anju Shukla
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications. Clinical genetics (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A (2024)
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 Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Swati Singh, Hitesh Shah, Ashwin B Dalal, Anju Shukla, Gandham SriLakshmi Bhavani, Katta Mohan Girisha
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. American journal of medical genetics. Part A 194 (8) (2024)
Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan, Vivekananda Bhat, Shalini S Nayak, Karthik Vijay Nair, Adarsh Pooradan Prasannakumar, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat, Shrikiran Aroor, Leslie Lewis, Jayashree Purkayastha, Y Ramesh Bhat, B K Praveen, B L Yatheesha, Siddaramappa Jagdish Patil, Sheela Nampoothiri, Nutan Kamath, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Suvasini Sharma, Anju Shukla
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications. Clinical genetics 105 (6) (2024)
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 Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan, Vivekananda Bhat, Shalini S Nayak, Karthik Vijay Nair, Adarsh Pooradan Prasannakumar, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat, Shrikiran Aroor, Leslie Lewis, Jayashree Purkayastha, Y Ramesh Bhat, B K Praveen, B L Yatheesha, Siddaramappa Jagdish Patil, Sheela Nampoothiri, Nutan Kamath, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Suvasini Sharma, Anju Shukla
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications. Clinical genetics 105 (6) (2024)
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 Mohan Girisha, Anju Shukla, Stephanie L Bielas, Ashleigh E Schaffer
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature communications 15 (1) (2024)
Elizabeth A Werren, Guillermo Rodriguez Bey, Purvi Majethia, Parneet Kaur, Siddaramappa J Patil, Minal Kekatpure, Alexandra Afenjar, Leila Qebibo, Lydie Burglen, Hoda Tomoum, Florence Demurger, Christele Duborg, Shahyan Siddiqui, Yao-Chang Tsan, Uzma Abdullah, Zafar Ali, Saadia Maryam Saadi, Shahid Mahmood Baig, Henry Houlden, Reza Maroofian, Quasar Saleem Padiath, Stephanie L Bielas, Anju Shukla
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects. Brain : a journal of neurology (2024)
Shruti Pande, Selinda Mascarenhas, Aishwarya Venkatraman, Vivekananda Bhat, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Stephanie L Bielas, Katta Mohan Girisha, Anju Shukla
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy. American journal of medical genetics. Part A (2023)
Shruti Pande, Purvi Majethia, Karthik Nair, Lakshmi Priya Rao, Selinda Mascarenhas, Namanpreet Kaur, Michelle C do Rosario, Kausthubham Neethukrishna, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sruthy Xavier, Jeevan Kumar, Vivekananda Bhat, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, B L Yatheesha, Siddaramappa J Patil, Sheela Nampoothiri, Nutan Kamath, Shrikiran Aroor, Ramesh Bhat Y, Leslie E Lewis, Suvasini Sharma, Shruti Bajaj, Naveen Sankhyan, Shahyan Siddiqui, Shalini S Nayak, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. European journal of human genetics : EJHG (2023)
Shruti Pande, Purvi Majethia, Karthik Nair, Lakshmi Priya Rao, Selinda Mascarenhas, Namanpreet Kaur, Michelle C do Rosario, Kausthubham Neethukrishna, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sruthy Xavier, Jeevan Kumar, Vivekananda Bhat, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, B L Yatheesha, Siddaramappa J Patil, Sheela Nampoothiri, Nutan Kamath, Shrikiran Aroor, Ramesh Bhat Y, Leslie E Lewis, Suvasini Sharma, Shruti Bajaj, Naveen Sankhyan, Shahyan Siddiqui, Shalini S Nayak, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. European journal of human genetics : EJHG (2023)
Chiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg-Didinger, Leila Motlagh Scholle, Somayeh Bakhtiari, Michael C Kruer, Hossein Darvish, Saghar Ghasemi Firouzabadi, Alex Pagnozzi, Anju Shukla, Katta Mohan Girisha, Dhanya Lakshmi Narayanan, Parneet Kaur, Reza Maroofian, Maha Saad Zaki, Mahmoud M Noureldeen, Andreas Merkenschlager, Janina Gburek-Augustat, Elisa Cali, Selina Banu, Kamrun Nahar, Stephanie Efthymiou, Henry Houlden, Rami Abou Jamra, Jason Williams, Christopher R McMaster, Konrad Platzer
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly. Brain : a journal of neurology 145 (6) (2022)
Michelle C do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, Fang Liu, Talia Oranburg, Ana S A Cohen, Keith A Coffman, Maya R Brown, Kirill Kiselyov, Quinten Waisfisz, Myrthe T Flohil, Shahyan Siddiqui, Jill Anne Rosenfeld, Alejandro Iglesias, Katta Mohan Girisha, Nicole I Wolf, Quasar Saleem Padiath, Anju Shukla
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy. Brain : a journal of neurology (2022)
Dhanya Lakshmi Narayanan, José Rivera Alvarez, Peggy Tilly, Michelle C do Rosario, Vivekananda Bhat, Juliette D Godin, Anju Shukla
Further delineation of KIF21B-related neurodevelopmental disorders. Journal of human genetics 67 (12) (2022)
Shalini S Nayak, Robert Harkness, Anju Shukla, Siddharth Banka, William G Newman, Katta Mohan Girisha
Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence. American journal of medical genetics. Part A (2022)
Umut Altunoglu, Esra Börklü, Anju Shukla, Nathalie Escande-Beillard, Susanne Ledig, Hülya Azaklı, Shalini S Nayak, Serpil Eraslan, Katta Mohan Girisha, Ingo Kennerknecht, Hülya Kayserili
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. Clinical genetics (2021)
Prince Jacob, Gandham Sri Lakshmi Bhavani, Hitesh Shah, Chelna Galada, Sheela Nampoothiri, Nutan Kamath, Shubha Rao Phadke, Mamta Muranjan, Chaitanya A Datar, Anju Shukla, Katta Mohan Girisha
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients. American journal of medical genetics. Part A (2021)
Purvi Majethia, Michelle C Do Rosario, Parneet Kaur, Anju Shukla, Raagul Shankar, Suvasini Sharma, Shahyan Siddiqui, Anju Shukla
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy. Annals of human genetics (2021)
Shruti Pande, Periyasamy Radhakrishnan, Naveenchandra M Shetty, Anju Shukla, Katta Mohan Girisha
Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. American journal of medical genetics. Part A 185 (9) (2021)
Purvi Majethia, Puneeth Hirivate Somashekar, Malavika Hebbar, Rajagopal Kadavigere, Balike Krishna Praveen, Katta Mohan Girisha, Anju Shukla
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia. Clinical genetics 100 (2) (2021)
Puneeth H Somashekar, Parneet Kaur, Joshi Stephen, Vishal Singh Guleria, Rajagopal Kadavigere, Katta Mohan Girisha, Stephanie Bielas, Priyanka Upadhyai, Anju Shukla
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Clinical genetics 99 (4) (2021)
Dhanya Lakshmi Narayanan, Divya Udyawar, Parneet Kaur, Suvasini Sharma, Narayanaswamy Suresh, Sheela Nampoothiri, Michelle C do Rosario, Puneeth H Somashekar, Lakshmi Priya Rao, Neethukrishna Kausthubham, Purvi Majethia, Shruti Pande, Y Ramesh Bhat, Aroor Shrikiran, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling. European journal of human genetics : EJHG 29 (12) (2021)
Sunita Bijarnia Mahay, Puneeth H Somashekar, Parneet Kaur, Samarth Kulshrestha, Vedam L Ramprasad, Sakthivel Murugan, Seema Sud, Anju Shukla
Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene. Journal of human genetics (2021)
Parneet Kaur, Michelle C do Rosario, Malavika Hebbar, Suvasini Sharma, Neethukrishna Kausthubham, Karthik Nair, Shrikiran A, Ramesh Bhat Y, Leslie Edward S Lewis, Sheela Nampoothiri, Siddaramappa Jagdish Patil, Narayanaswami Suresh, Sunita Bijarnia Mahay, Ratna Dua Puri, Shivanand Pai, Anupriya Kaur, Rakshith Kc, Nutan Kamath, Shruti Bajaj, Ali Kumble, Rajesh Shetty, Rathika Shenoy, Mahesh Kamate, Hitesh Shah, Mamta N Muranjan, Yatheesha Bl, K Shreedhara Avabratha, Girish Subramaniam, Rajagopal Kadavigere, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities. Clinical genetics 100 (5) (2021)
Dhanya Lakshmi Narayanan, Greeshma Purushothama, Gandham Sri Lakshmi Bhavani, Anju Shukla
Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings. American journal of medical genetics. Part A 182 (6) (2020)
Anju Shukla, Parneet Kaur, Dhanya Lakshmi Narayanan, Michelle C do Rosario, Rajagopal Kadavigere, Katta Mohan Girisha
Genetic disorders with central nervous system white matter abnormalities: An update. Clinical genetics 99 (1) (2020)
Puneeth H Somashekar, Priyanka Upadhyai, Dhanya L Narayanan, Nutan Kamath, Shruti Bajaj, Katta Mohan Girisha, Anju Shukla
Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome. American journal of medical genetics. Part A 182 (12) (2020)
Parneet Kaur, Suvasini Sharma, Rajagopal Kadavigere, Katta Mohan Girisha, Anju Shukla
Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature. Annals of human genetics 84 (4) (2020)
Leah Ke'ala'aumoe Dowsett, Antonio R Porras, Paul S Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Eben Badoe, Meow-Keong Thong, Eyby Leon, Katta Mohan Girisha, Anju Shukla, Shalini S Nayak, Vorasuk Shotelersuk, Andre Megarbane, Shubha Rao Phadke, Nirmala D Sirisena, Vajira H W Dissanayake, Carlos R Ferreira, Monisha S Kisling, Pranoot Tanpaiboon, Annette Uwineza, Leon Mutesa, Cedrik Tekendo-Ngongang, Ambroise Wonkam, Karen Fieggen, Leticia Cassimiro Batista, Danilo Moretti-Ferreira, Roger E Stevenson, Eloise J Prijoles, David B Everman, Kate Clarkson, Jessica Worthington, Virginia E Kimonis, Fuki Hisama, Carol Crowe, Paul Wong, Kisha Johnson, Robin D Clark, Lynne Bird, Diane Masser-Frye, Marie McDonald, Patrick Willems, Elizabeth Roeder, Sulgana Saitta, Kwame Anyane-Yeoba, Laurie Demmer, Naoki Hamajima, Zornitza Stark, Greta Gillies, Louanne Hudgins, Usha Dave, Stavit Shalev, Victoria Siu, Ann Ades, Holly Dubbs, Sarah Raible, Maninder Kaur, Emanuela Salzano, Laird Jackson, Matthew Deardorff, Antonie D Kline, Marshall Summar, Maximilian Muenke, Marius George Linguraru, Ian D Krantz
Cornelia de Lange syndrome in diverse populations. American journal of medical genetics. Part A 179 (2) (2019)
Anju Shukla, Dhanya L Narayanan, Urja Asher, Katta Mohan Girisha
A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy. Clinical genetics 96 (3) (2019)
Periyasamy Radhakrishnan, Shalini S Nayak, Anju Shukla, Anna Lindstrand, Katta Mohan Girisha
Meckel syndrome: Clinical and mutation profile in six fetuses. Clinical genetics 96 (6) (2019)
Periyasamy Radhakrishnan, Anju Shukla, Katta Mohan Girisha, Shalini S Nayak
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence. American journal of medical genetics. Part A 182 (4) (2019)
Dhanya Lakshmi Narayanan, Anju Shukla, Neethukrishna Kausthubham, Gandham S Bhavani, Hitesh Shah, Geert Mortier, Katta Mohan Girisha
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO. American journal of medical genetics. Part A 179 (9) (2019)
Puneeth H Somashekar, Dhanya Lakshmi Narayanan, Sujatha Jagadeesh, Beena Suresh, Reddy D Vaishnavi, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. American journal of medical genetics. Part A 182 (1) (2019)
Anju Shukla, Katta Mohan Girisha, Puneeth H Somashekar, Sheela Nampoothiri, Rebecca McClellan, Hilary J Vernon
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. American journal of medical genetics. Part A 179 (5) (2019)
Parneet Kaur, Kausthubham Neethukrishna, Ali Kumble, Katta Mohan Girisha, Anju Shukla
Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene. American journal of medical genetics. Part A 179 (5) (2019)
Chelna Galada, Malavika Hebbar, Leslie Lewis, Santosh Soans, Rajagopal Kadavigere, Anshika Srivastava, Stephanie Bielas, Katta M Girisha, Anju Shukla
Report of four novel variants in ASNS causing asparagine synthetase deficiency and review of literature. Congenital anomalies 58 (5) (2018)
Puneeth H Somashekar, Katta Mohan Girisha, Sheela Nampoothiri, Kalpana Gowrishankar, Radha R Devi, Neerja Gupta, Dhanya L Narayanan, Anupriya Kaur, Shruti Bajaj, Sujatha Jagadeesh, Leslie E S Lewis, Shenoy Shailaja, Anju Shukla
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. Clinical genetics 95 (3) (2018)
Smrithi Salian, Sheela Nampoothiri, Anju Shukla, Katta Mohan Girisha
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype. Congenital anomalies 59 (1) (2018)

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Publication Activity (10 Years)

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Anju Shukla