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» Authors » Vimla Aggarwal

Vimla Aggarwal

Explore the profile of Vimla Aggarwal including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 27
Citations 694
Followers 0
Related Specialties
Genetics
Neurology
General Medicine
Top 10 Co-Authors
David B Goldstein
Louise Bier
Gundula Povysil
Anya Revah-Politi
Brynn Levy
Nicholas Stong
Mythily Ganapathi
Natalie C Lippa
Anna Alkelai
Kwame Anyane-Yeboa
Published In
Am J Med Genet A
Prenat Diagn
Genet Med
BMC Neurol
Br J Clin Pharmacol
Affiliations
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Recent Articles
1.
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors
Deignan J, Aggarwal V, Bale A, Bellissimo D, Booker J, Cao Y, et al.
Genet Med Open . 2024 Aug; 2. PMID: 39175871
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and...
2.
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, et al.
Mol Genet Metab . 2024 Mar; 142(1):108362. PMID: 38452609
Cerebral creatine deficiency syndromes (CCDS) are inherited metabolic phenotypes of creatine synthesis and transport. There are two enzyme deficiencies, guanidinoacetate methyltransferase (GAMT), encoded by GAMT and arginine-glycine amidinotransferase (AGAT), encoded...
3.
Investigation into the genetics of fetal congenital lymphatic anomalies
Rogerson D, Alkelai A, Giordano J, Pantrangi M, Hsiao M, Nhan-Chang C, et al.
Prenat Diagn . 2023 Mar; 43(6):703-716. PMID: 36959127
Objective: Congenital lymphatic anomalies (LAs) arise due to defects in lymphatic development and often present in utero as pleural effusion, chylothorax, nuchal and soft tissue edema, ascites, or hydrops. Many...
4.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of
Happ H, Sadleir L, Zemel M, de Valles-Ibanez G, Hildebrand M, McConkie-Rosell A, et al.
Neurology . 2022 Oct; 100(6):e603-e615. PMID: 36307226
Background And Objectives: encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo variants. Methods: We screened 893 individuals with...
5.
Impact of pre-emptive rapid testing for glucose-6-phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care centre: A retrospective study
Ganapathi M, Campbell P, Ofori K, Aggarwal V, Francis R, Kratz A
Br J Clin Pharmacol . 2022 Apr; 88(9):4163-4170. PMID: 35419830
Aims: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy in humans, can cause acute haemolysis resulting from exposure to certain medications, chemicals, infections and fava beans. Rasburicase, used to manage...
6.
Fetal central nervous system anomalies: When should we offer exome sequencing?
Baptiste C, Mellis R, Aggarwal V, Lord J, Eberhardt R, Kilby M, et al.
Prenat Diagn . 2022 Apr; 42(6):736-743. PMID: 35411553
Objective: To investigate the detection of pathogenic variants using exome sequencing in an international cohort of fetuses with central nervous system (CNS) anomalies. Methods: We reviewed trio exome sequencing (ES)...
7.
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
Alkelai A, Greenbaum L, Docherty A, Shabalin A, Povysil G, Malakar A, et al.
Mol Psychiatry . 2021 Nov; 27(3):1435-1447. PMID: 34799694
Schizophrenia has a multifactorial etiology, involving a polygenic architecture. The potential benefit of whole genome sequencing (WGS) in schizophrenia and other psychotic disorders is not well studied. We investigated the...
8.
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
Lippa N, Barua S, Aggarwal V, Pereira E, Bain J
BMC Neurol . 2021 Sep; 21(1):358. PMID: 34530748
Background: Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female...
9.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
Kushary S, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, et al.
Am J Med Genet A . 2021 Jul; 185(12):3740-3753. PMID: 34331327
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is caused by de novo loss-of-function variants in the SON gene (MIM #617140). This multisystemic disorder is characterized by intellectual disability, seizures, abnormal brain imaging, variable dysmorphic...
10.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Cousin M, Creighton B, Breau K, Spillmann R, Torti E, Dontu S, et al.
Nat Genet . 2021 Jul; 53(7):1006-1021. PMID: 34211179
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies....