Vimla S. Aggarwal

National Committee for Quality Assurance

Also affiliated with Columbia University Irving Medical Center

Biochemistry, Genetics and Molecular BiologyMedicineNursing

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 20 papers. Top paper: “Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies”.

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.07.010

N/A

1.4DataRank · unranked

57 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

N/A

1.2DataRank · unranked

27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Investigation into the genetics of fetal congenital lymphatic anomalies

Prenatal Diagnosis(2023)10.1002/pd.6345

N/A

1.2DataRank · unranked

29 citations

Anna Alkelai, Jessica L. Giordano, Madhulatha Pantrangi, Meng‐Chang Hsiao, Chia‐Ling Nhan‐Chang +6 more

Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis

Bone(2021)10.1016/j.bone.2021.116253

N/A

0.477DataRank · unranked

23 citations

Joseph Hostyk, Evan H. Baugh, Christie M. Buchovecky, Vimla S. Aggarwal, Robert R. Recker +9 more

A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report

BMC Neurology(2021)10.1186/s12883-021-02380-9

N/A

0.442DataRank · unranked

18 citations

Subit Barua, Vimla S. Aggarwal, Elaine M. Pereira, Jennifer Bain, Natalie Lippa

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.12.248526

N/A

0.385DataRank · unranked

12 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329

N/A

0.104DataRank · unranked

1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Neurology(2022)10.1212/wnl.0000000000201492

N/A

0DataRank · unranked

24 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +50 more

Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies

Kidney International Reports(2022)10.1016/j.ekir.2022.07.174

N/A

0DataRank · unranked

3 citations

Dina Ahram, Maddalena Marasà, Ateeq Ur Rehman, Halie May, Stergios Zacharoulis +11 more

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

medRxiv(2022)10.1101/2022.04.26.22274147

N/A

0DataRank · unranked

0 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +49 more

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108362

N/A

0DataRank · unranked

10 citations

Amanda Thomas‐Wilson, Emily Groopman, Vimla S. Aggarwal, Simona Bianconi, Raquel Fernandez +9 more

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101820

N/A

0DataRank · unranked

2 citations

Vimla S. Aggarwal, A. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao +30 more

Causal Genetic Variants in Stillbirth

New England Journal of Medicine(2020)10.1056/nejmoa1908753

N/A

0DataRank · unranked

140 citations

Jessica L. Giordano, Vanessa Thorsten, Christie M. Buchovecky, Amanda Thomas‐Wilson, Mythily Ganapathi +21 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w

N/A

0DataRank · unranked

2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more

Pilot Study of Return of Genetic Results to Patients in Adult Nephrology

Clinical Journal of the American Society of Nephrology(2020)10.2215/cjn.12481019

N/A

0DataRank · unranked

47 citations

Maddalena Marasà, Hila Milo Rasouly, Emily Groopman, S. Ali Husain, Sumit Mohan +19 more

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

Human Genetics and Genomics Advances(2020)10.1016/j.xhgg.2020.100016

N/A

0DataRank · unranked

14 citations

Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller +15 more

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.019

N/A

0DataRank · unranked

25 citations

Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke M. van Haelst +43 more

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

medRxiv(2020)10.1101/2020.08.31.20184481

N/A

0DataRank · unranked

3 citations

Keith A. Breau, Blake A. Creighton, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +63 more

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature Genetics(2021)10.1038/s41588-021-00886-z

N/A

0DataRank · unranked

108 citations

Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +70 more

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62445

N/A

0DataRank · unranked

27 citations

Anya Revah‐Politi, Subit Barua, Mythily Ganapathi, Andrea Accogli, Vimla S. Aggarwal +29 more