Vimla S Aggarwal

Vimla S Aggarwal

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Vimla S Aggarwal

Vimla S Aggarwal

Publications by authors named "Vimla S Aggarwal"

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13Publications

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Diagnostic Utility of Exome Sequencing for Kidney Disease.

N Engl J Med 2019 01 26;380(2):142-151. Epub 2018 Dec 26.

From the Departments of Medicine (E.E.G., M.M., H.M.-R., Y.L., J.Z., J.N., P.K., W.Y.L., A.M., S. Piva, B.H.K., D.C., R.R., D.B., M.D., H.S., X.M., K.M., O.B., J.R., P.C., G.B.A., A.S.B., W.A., D.J.C., R.J.C., G.K.D., M.K.R., S.M., S.S.-C., K.K., A.G.G.) and Pediatrics (N.S.U.), Division of Nephrology, the Departments of Pathology (V.S.A.), Biomedical Informatics (D.A.F., C.W.), and Urology (S.A.), the Institute for Genomic Medicine (S.K., B.C., Z.R., J.B., C.D.M., C.M.M., N.D., D.B.G., A.G.G.) and the Department of Genetics and Development (D.B.G.), Hammer Health Sciences, and the Department of Epidemiology, Mailman School of Public Health (S.M.), Columbia University, New York; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, Innovative Medicines and Early Development (IMED) Biotech Unit, Cambridge, United Kingdom (S.C.-C., S. Petrovski, C.H., J.F., R.M., A.P.); and the Department of Medical Science, Renal Unit, Uppsala University Hospital, Uppsala, Sweden (B.C.F.).

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http://www.nejm.org/doi/10.1056/NEJMoa1806891
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http://dx.doi.org/10.1056/NEJMoa1806891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510541PMC
January 2019

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Am J Med Genet A 2017 Dec 22;173(12):3158-3164. Epub 2017 Sep 22.

Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center (CUMC), New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.38460DOI Listing
December 2017

Clinical Genomic Profiling of a Diverse Array of Oncology Specimens at a Large Academic Cancer Center: Identification of Targetable Variants and Experience with Reimbursement.

J Mol Diagn 2017 03 23;19(2):277-287. Epub 2016 Dec 23.

Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.10.008DOI Listing
March 2017

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.

J Clin Immunol 2014 Aug 17;34(6):607-10. Epub 2014 Jun 17.

Division of Allergy and Immunology, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1007/s10875-014-0067-7DOI Listing
August 2014

Mesodermal Tbx1 is required for patterning the proximal mandible in mice.

Dev Biol 2010 Aug 23;344(2):669-81. Epub 2010 May 23.

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1016/j.ydbio.2010.05.496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917794PMC
August 2010

Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis.

BMC Dev Biol 2009 May 29;9:31. Epub 2009 May 29.

Department of Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, New York 10461, USA.

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http://dx.doi.org/10.1186/1471-213X-9-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700094PMC
May 2009

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome.

Dev Disabil Res Rev 2008 ;14(1):19-25

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1002/ddrr.4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2818567PMC
November 2008

Identification of downstream genetic pathways of Tbx1 in the second heart field.

Dev Biol 2008 Apr 13;316(2):524-37. Epub 2008 Feb 13.

Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Ave., Bronx, NY 10461, USA.

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http://dx.doi.org/10.1016/j.ydbio.2008.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2494702PMC
April 2008

Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.

Hum Mol Genet 2006 Nov 25;15(21):3219-28. Epub 2006 Sep 25.

Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1093/hmg/ddl399DOI Listing
November 2006

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage.

Hum Mol Genet 2004 Aug 9;13(15):1577-85. Epub 2004 Jun 9.

Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

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http://dx.doi.org/10.1093/hmg/ddh176DOI Listing
August 2004