Publications by authors named "Vimla Aggarwal"

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Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG).
Vimla S Aggarwal, Saurav Guha, Matthew S Lebo, Kyle Retterer, Curt Scharfe

Genet Med Open· July 2025

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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T Sands, Vimla S Aggarwal

Nat Commun· February 2025

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ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Jennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, Vimla Aggarwal, Simona Bianconi

Mol Genet Metab· May 2024

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The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.
Joshua L Deignan, Vimla Aggarwal, Allen E Bale, Daniel B Bellissimo, Jessica K Booker

Genet Med Open· February 2024

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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T Sands, Vimla S Aggarwal

medRxiv· January 2024

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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Chelsea Lowther, Elise Valkanas, Jessica L Giordano, Harold Z Wang, Benjamin B Currall, Vimla S Aggarwal

Am J Hum Genet· September 2023

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Investigation into the genetics of fetal congenital lymphatic anomalies.
Daniella Rogerson, Anna Alkelai, Jessica Giordano, Madhulatha Pantrangi, Meng-Chang Hsiao, Vimla Aggarwal

Prenat Diagn· June 2023

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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of .
Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand, Vimla Aggarwal

Neurology· February 2023

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Myosin Mutations and Sudden Sensorineural Hearing Loss: Results of Whole Exome Sequencing.
Rahul K Sharma, Madeleine Drusin, Joseph Hostyk, Evan H Baugh, Vimla S Aggarwal

Otol Neurotol· January 2023

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Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies.
Namrata G Jain, Dina F Ahram, Maddalena Marasa, Ateeq U Rehman, Halie J May, Vimla S Aggarwal

Kidney Int Rep· October 2022

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Impact of pre-emptive rapid testing for glucose-6-phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care centre: A retrospective study.
Mythily Ganapathi, Peter Campbell, Kenneth Ofori, Vimla Aggarwal, Richard O Francis

Br J Clin Pharmacol· September 2022

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Fetal central nervous system anomalies: When should we offer exome sequencing?
Caitlin Baptiste, Rhiannon Mellis, Vimla Aggarwal, Jenny Lord, Ruth Eberhardt

Prenat Diagn· May 2022

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The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.
Anna Alkelai, Lior Greenbaum, Anna R Docherty, Andrey A Shabalin, Gundula Povysil, Vimla Aggarwal

Mol Psychiatry· March 2022

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Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.
Adi Cohen, Joseph Hostyk, Evan H Baugh, Christie M Buchovecky, Vimla S Aggarwal

Bone· January 2022

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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Sulagna Tina Kushary, Anya Revah-Politi, Subit Barua, Mythily Ganapathi, Andrea Accogli, Vimla Aggarwal

Am J Med Genet A· December 2021

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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Halie J May, Jaehoon Jeong, Anya Revah-Politi, Julie S Cohen, Anna Chassevent, Vimla Aggarwal

Genet Med· October 2021

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A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
Natalie C Lippa, Subit Barua, Vimla Aggarwal, Elaine Pereira, Jennifer M Bain

BMC Neurol· September 2021

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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Michelle E Ernst, Evan H Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Vimla Aggarwal

Epilepsia· July 2021

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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Margot A Cousin, Blake A Creighton, Keith A Breau, Rebecca C Spillmann, Erin Torti, Vimla Aggarwal

Nat Genet· July 2021

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Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer Sullivan, Vandana Shashi, Vimla Aggarwal

Hum Mutat· June 2021

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Assessing the Role of Rare Genetic Variation in Patients With Heart Failure.
Gundula Povysil, Olympe Chazara, Keren J Carss, Sri V V Deevi, Quanli Wang, Vimla Aggarwal

JAMA Cardiol· April 2021

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Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient.
Hila Milo Rasouly, Vimla Aggarwal, Louise Bier, David B Goldstein, Ali G Gharavi

Ann Intern Med· April 2021

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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Eline A Verberne, Shuxiang Goh, Jade England, Manon van Ginkel, Louise Rafael-Croes, Vimla Aggarwal

Genet Med· February 2021

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De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Patricia L Weng, Amar J Majmundar, Kamal Khan, Tze Y Lim, Shirlee Shril, Vimla S Aggarwal

Am J Hum Genet· February 2021

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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
Julie C Van De Weghe, Jessica L Giordano, Inge B Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Vimla S Aggarwal

HGG Adv· January 2021

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