Pankaj B Agrawal
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Explore the profile of Pankaj B Agrawal including associated specialties, affiliations and a list of published articles.
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170
Citations
2997
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Recent Articles
1.
Kennedy J, Vargas S, Fishman M, Alesi N, Baek S, Khabibillin D, et al.
Med
. 2025 Feb;
:100607.
PMID: 40020677
Background: Childhood interstitial and diffuse lung diseases are a collection of rare disorders with significant associated morbidity. Only a small subset of these diseases have precise diagnostic or therapeutic options...
2.
Wojcik M, Wojcik M, Clark R, Clark R, Elias A, Elias A, et al.
Res Sq
. 2025 Feb;
PMID: 39975911
Incontinentia pigmenti (IP) is caused by loss-of-function variants in , with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical...
3.
Morton S, Costain G, French C, Wakeling E, Szuto A, Christodoulou J, et al.
Neurology
. 2024 Dec;
104(1):e210106.
PMID: 39700446
Background And Objectives: Hypotonia is a relatively common finding among infants in the neonatal intensive care unit (NICU). Consideration of genetic testing is recommended early in the care of infants...
4.
Mullen M, Ivy D, Varghese N, Winant A, Cortes-Santiago N, Vargas S, et al.
J Pediatr
. 2024 Nov;
278:114422.
PMID: 39603521
Objective: To characterize clinical, hemodynamic, imaging, and pathologic findings in children with pulmonary arterial hypertension (PAH) and variants in SRY-box transcription factor 17 (SOX17), a novel risk gene linked to...
5.
Ali S, Li Q, Agrawal P
Pediatr Res
. 2024 Nov;
PMID: 39562738
The rapid and accurate diagnosis of rare diseases is paramount in directing clinical management. In recent years, the integration of multi-omics approaches has emerged as a potential strategy to overcome...
6.
Blackburn P, Ebstein F, Hsieh T, Motta M, Radio F, Herkert J, et al.
Ann Neurol
. 2024 Sep;
PMID: 39301775
Objective: De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed...
7.
Schmitz-Abe K, Li Q, Greene S, Borrelli M, Luo S, Ramesh M, et al.
bioRxiv
. 2024 Sep;
PMID: 39282287
Publicly available genomic databases and genetic constraint scores are crucial in understanding human population variation and the identification of variants that are likely to have a deleterious impact causing human...
8.
Borroto M, Michaud C, Hudon C, Agrawal P, Agre K, Applegate C, et al.
Genes (Basel)
. 2024 Aug;
15(8).
PMID: 39202393
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive as well,...
9.
Luo S, Alwattar B, Li Q, Bora K, Blomfield A, Lin J, et al.
Dis Model Mech
. 2024 Jul;
17(8).
PMID: 38966981
Inherited retinal diseases encompass a genetically diverse group of conditions caused by variants in genes critical to retinal function, including handful of ribosome-associated genes. This study focuses on the HBS1L...
10.
DGama A, Wojcik M, Hills S, Douglas J, Yu T, Agrawal P, et al.
Genet Med
. 2024 Jun;
26(9):101177.
PMID: 38855852
Purpose: Critically ill infants from marginalized populations disproportionately receive care in neonatal intensive care units (NICUs) that lack access to state-of-the-art genomic care, leading to inequitable outcomes. We sought provider...