Search Results - "Aggarwal, Vimla S."

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis by Wapner, Ronald J, Martin, Christa Lese, Levy, Brynn, Ballif, Blake C, Eng, Christine M, Zachary, Julia M, Savage, Melissa, Platt, Lawrence D, Saltzman, Daniel, Grobman, William A, Klugman, Susan, Scholl, Thomas, Simpson, Joe Leigh, McCall, Kimberly, Aggarwal, Vimla S, Bunke, Brian, Nahum, Odelia, Patel, Ankita, Lamb, Allen N, Thom, Elizabeth A, Beaudet, Arthur L, Ledbetter, David H, Shaffer, Lisa G, Jackson, Laird

“…This large, systematic study of prenatal diagnosis shows that chromosomal microarray analysis provided additional, clinically significant cytogenetic…”
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Identification of downstream genetic pathways of Tbx1 in the second heart field by Liao, Jun, Aggarwal, Vimla S., Nowotschin, Sonja, Bondarev, Alexei, Lipner, Shari, Morrow, Bernice E.

“…Tbx1, a T-box transcription factor, and an important gene for velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) in humans, causes outflow tract (OFT)…”
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Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia by Alkelai, Anna, Shohat, Shahar, Greenbaum, Lior, Schechter, Tanya, Draiman, Benjamin, Chitrit-Raveh, Eti, Rienstein, Shlomit, Dagaonkar, Neha, Hughes, Daniel, Aggarwal, Vimla S, Heinzen, Erin L, Shifman, Sagiv, Goldstein, David B, Kohn, Yoav

“…Childhood-onset schizophrenia (COS) is a rare form of schizophrenia with an onset before 13 years of age. There is rising evidence that genetic factors play a…”
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TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes by Van De Weghe, Julie C., Giordano, Jessica L., Mathijssen, Inge B., Mojarrad, Majid, Lugtenberg, Dorien, Miller, Caitlin V., Dempsey, Jennifer C., Mohajeri, Mahsa Sadat Asl, van Leeuwen, Elizabeth, Pajkrt, Eva, Klaver, Caroline C.W., Houlden, Henry, Eslahi, Atieh, Waters, Aoife M., Bamshad, Michael J., Nickerson, Deborah A., Aggarwal, Vimla S., de Vries, Bert B.A., Maroofian, Reza, Doherty, Dan

“…The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a…”
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Genetic Modifiers of the Physical Malformations in Velo-Cardio-Facial Syndrome/DiGeorge Syndrome by Aggarwal, Vimla S, Morrow, Bernice E

“…Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and…”
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Diagnostic Utility of Exome Sequencing for Kidney Disease by Groopman, Emily E, Marasa, Maddalena, Cameron-Christie, Sophia, Petrovski, Slavé, Aggarwal, Vimla S, Milo-Rasouly, Hila, Li, Yifu, Zhang, Junying, Nestor, Jordan, Krithivasan, Priya, Lam, Wan Yee, Mitrotti, Adele, Piva, Stacy, Kil, Byum H, Chatterjee, Debanjana, Reingold, Rachel, Bradbury, Drew, DiVecchia, Michael, Snyder, Holly, Mu, Xueru, Mehl, Karla, Balderes, Olivia, Fasel, David A, Weng, Chunhua, Radhakrishnan, Jai, Canetta, Pietro, Appel, Gerald B, Bomback, Andrew S, Ahn, Wooin, Uy, Natalie S, Alam, Shumyle, Cohen, David J, Crew, Russell J, Dube, Geoffrey K, Rao, Maya K, Kamalakaran, Sitharthan, Copeland, Brett, Ren, Zhong, Bridgers, Joshua, Malone, Colin D, Mebane, Caroline M, Dagaonkar, Neha, Fellström, Bengt C, Haefliger, Carolina, Mohan, Sumit, Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Fleckner, Jan, March, Ruth, Platt, Adam, Goldstein, David B, Gharavi, Ali G

“…The utility of exome sequencing for most constitutional disorders in adults is unclear. In this study, exome sequencing in 3315 patients with chronic kidney…”
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Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels? by Ahram, Dina F., Aggarwal, Vimla S., Sanna-Cherchi, Simone

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Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy by Aggarwal, Vimla S., Liao, Jun, Bondarev, Alexei, Schimmang, Thomas, Lewandoski, Mark, Locker, Joseph, Shanske, Alan, Campione, Marina, Morrow, Bernice E.

“…The 22q11 deletion syndrome (22q11DS) is characterized by abnormal development of the pharyngeal apparatus. Mouse genetic studies have identified Tbx1 as a key…”
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Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis by Cohen, Adi, Hostyk, Joseph, Baugh, Evan H., Buchovecky, Christie M., Aggarwal, Vimla S., Recker, Robert R., Lappe, Joan M., Dempster, David W., Zhou, Hua, Kamanda-Kosseh, Mafo, Bucovsky, Mariana, Stubby, Julie, Goldstein, David B., Shane, Elizabeth

“…Osteoporosis in premenopausal women with intact gonadal function and no known secondary cause of bone loss is termed idiopathic osteoporosis (IOP). Women with…”
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Myosin Mutations and Sudden Sensorineural Hearing Loss: Results of Whole Exome Sequencing by Sharma, Rahul K., Drusin, Madeleine, Hostyk, Joseph, Baugh, Evan H., Aggarwal, Vimla S., Goldstein, David, Kim, Ana H.

“…Idiopathic sudden sensorineural hearing loss (ISSNHL) affects 66,000 patients per year in the United States. Genetic mutations have been associated with…”
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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies by Lowther, Chelsea, Valkanas, Elise, Giordano, Jessica L., Wang, Harold Z., Currall, Benjamin B., O’Keefe, Kathryn, Pierce-Hoffman, Emma, Kurtas, Nehir E., Whelan, Christopher W., Hao, Stephanie P., Weisburd, Ben, Jalili, Vahid, Fu, Jack, Wong, Isaac, Collins, Ryan L., Zhao, Xuefang, Austin-Tse, Christina A., Evangelista, Emily, Lemire, Gabrielle, Aggarwal, Vimla S., Lucente, Diane, Gauthier, Laura D., Tolonen, Charlotte, Sahakian, Nareh, Stevens, Christine, An, Joon-Yong, Dong, Shan, Norton, Mary E., MacKenzie, Tippi C., Devlin, Bernie, Gilmore, Kelly, Powell, Bradford C., Brandt, Alicia, Vetrini, Francesco, DiVito, Michelle, Sanders, Stephan J., MacArthur, Daniel G., Hodge, Jennelle C., O'Donnell-Luria, Anne, Rehm, Heidi L., Vora, Neeta L., Levy, Brynn, Brand, Harrison, Wapner, Ronald J., Talkowski, Michael E.

“…Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic approach for the assessment of autism spectrum disorder (ASD) and fetal…”
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Pilot Study of Return of Genetic Results to Patients in Adult Nephrology by Nestor, Jordan G, Marasa, Maddalena, Milo-Rasouly, Hila, Groopman, Emily E, Husain, S Ali, Mohan, Sumit, Fernandez, Hilda, Aggarwal, Vimla S, Ahram, Dina F, Vena, Natalie, Bogyo, Kelsie, Bomback, Andrew S, Radhakrishnan, Jai, Appel, Gerald B, Ahn, Wooin, Cohen, David J, Canetta, Pietro A, Dube, Geoffrey K, Rao, Maya K, Morris, Heather K, Crew, Russell J, Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Gharavi, Ali G

“…Actionable genetic findings have implications for care of patients with kidney disease, and genetic testing is an emerging tool in nephrology practice…”
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Mesodermal Tbx1 is required for patterning the proximal mandible in mice by Aggarwal, Vimla S., Carpenter, Courtney, Freyer, Laina, Liao, Jun, Petti, Marilena, Morrow, Bernice E.

“…Defects in the lower jaw, or mandible, occur commonly either as isolated malformations or in association with genetic syndromes. Understanding its formation…”
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Clinical Genomic Profiling of a Diverse Array of Oncology Specimens at a Large Academic Cancer Center: Identification of Targetable Variants and Experience with Reimbursement by Sireci, Anthony N, Aggarwal, Vimla S, Turk, Andrew T, Gindin, Tatyana, Mansukhani, Mahesh M, Hsiao, Susan J

“…Large cancer panels are being increasingly used in the practice of precision medicine to generate genomic profiles of tumors with the goal of identifying…”
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Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency by Agarwal, Niti Sardana, Northrop, Lesley, Anyane-Yeboa, Kwame, Aggarwal, Vimla S., Nagy, Peter L., Demirdag, Yesim Yilmaz

“…In the past year, two centers reported autosomal recessive mutations in tetratricopeptide repeat domain 7A (TTC7A) gene in patients with multiple intestinal…”
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Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series by Revah‐Politi, Anya, Ganapathi, Mythily, Bier, Louise, Cho, Megan T., Goldstein, David B., Hemati, Parisa, Iglesias, Alejandro, Juusola, Jane, Pappas, John, Petrovski, Slavé, Wilson, Ashley L., Aggarwal, Vimla S., Anyane‐Yeboa, Kwame

“…The association between 1p32‐p31 contiguous gene deletions and a distinct phenotype that includes anomalies of the corpus callosum, ventriculomegaly,…”
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Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage by Liao, Jun, Kochilas, Lazaros, Nowotschin, Sonja, Arnold, Jelena S., Aggarwal, Vimla S., Epstein, Jonathan A., Brown, M. Christian, Adams, Joe, Morrow, Bernice E.

“…Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is associated with de novo hemizygous 22q11.2 deletions and is characterized by malformations…”
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Clinical Genomic Profiling of a Diverse Array of Oncology Specimens at a Large Academic Cancer Center by Sireci, Anthony N, Aggarwal, Vimla S, Turk, Andrew T, Gindin, Tatyana, Mansukhani, Mahesh M, Hsiao, Susan J

“…Large cancer panels are being increasingly used in the practice of precision medicine to generate genomic profiles of tumors with the goal of identifying…”
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Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis by Braunstein, Evan M, Monks, Dennis C, Aggarwal, Vimla S, Arnold, Jelena S, Morrow, Bernice E

“…In vertebrates, the inner ear is comprised of the cochlea and vestibular system, which develop from the otic vesicle. This process is regulated via inductive…”
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Chromosomal Microarray Versus Karyotyping for Prenatal Diagnosis by Wapner, Ronald J, Martin, Christa Lese, Levy, Brynn, Ballif, Blake C, Eng, Christine M, Zachary, Julia M, Savage, Melissa, Platt, Lawrence D, Saltzman, Daniel, Grobman, William A, Klugman, Susan, Scholl, Thomas, Simpson, Joe Leigh, McCall, Kimberly, Aggarwal, Vimla S, Bunke, Brian, Nahum, Odelia, Patel, Ankita, Lamb, Allen N, Thom, Elizabeth A, Beaudet, Arthur L, Ledbetter, David H, Shaffer, Lisa G, Jackson, Laird

“…Array-based molecular cytogenetic techniques have improved the detection of small genomic deletions and duplications not seen on karyotyping. These copy-number…”
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