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Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
Author / Creator:Petrovski, Slavé ; Aggarwal, Vimla ; Giordano, Jessica L ; Stosic, Melissa ; Wou, Karen ; Bier, Louise ; Spiegel, Erica ; Brennan, Kelly ; Stong, Nicholas ; Jobanputra, Vaidehi ; Ren, Zhong ; Zhu, Xiaolin ; Mebane, Caroline ; Nahum, Odelia ; Wang, Quanli ; Kamalakaran, Sitharthan ; Malone, Colin ; Anyane-Yeboa, Kwame ; Miller, Russell ; Levy, Brynn ; Goldstein, David B ; Wapner, Ronald J
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2019-02, Vol.393 (10173), p.758-767
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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
Author / Creator: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
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2012-12, Vol.367 (23), p.2175-2184
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Causal Genetic Variants in Stillbirth
Author / Creator:Stanley, Kate E ; Giordano, Jessica ; Thorsten, Vanessa ; Buchovecky, Christie ; Thomas, Amanda ; Ganapathi, Mythily ; Liao, Jun ; Dharmadhikari, Avinash V ; Revah-Politi, Anya ; Ernst, Michelle ; Lippa, Natalie ; Holmes, Halie ; Povysil, Gundula ; Hostyk, Joseph ; Parker, Corette B ; Goldenberg, Robert ; Saade, George R ; Dudley, Donald J ; Pinar, Halit ; Hogue, Carol ; Reddy, Uma M ; Silver, Robert M ; Aggarwal, Vimla ; Allen, Andrew S ; Wapner, Ronald J ; Goldstein, David B
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2020-09, Vol.383 (12), p.1107-1116
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The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
Author / Creator:Alkelai, Anna ; Greenbaum, Lior ; Docherty, Anna R. ; Shabalin, Andrey A. ; Povysil, Gundula ; Malakar, Ayan ; Hughes, Daniel ; Delaney, Shannon L. ; Peabody, Emma P. ; McNamara, James ; Gelfman, Sahar ; Baugh, Evan H. ; Zoghbi, Anthony W. ; Harms, Matthew B. ; Hwang, Hann-Shyan ; Grossman-Jonish, Anat ; Aggarwal, Vimla ; Heinzen, Erin L. ; Jobanputra, Vaidehi ; Pulver, Ann E. ; Lerer, Bernard ; Goldstein, David B.
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2022-03, Vol.27 (3), p.1435-1447
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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
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-03, Vol.66 (3), p.339-343
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A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
Author / Creator:Lippa, Natalie C. ; Barua, Subit ; Aggarwal, Vimla ; Pereira, Elaine ; Bain, Jennifer M.
Publisher:London: BioMed Central Ltd
Journal title:BMC neurology, 2021-09, Vol.21 (1), p.1-358, Article 358
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Diagnostic Utility of Exome Sequencing for Kidney Disease
Author / Creator: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
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2019-01, Vol.380 (2), p.142-151
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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
Author / Creator:May, Halie J. ; Jeong, Jaehoon ; Revah-Politi, Anya ; Cohen, Julie S. ; Chassevent, Anna ; Baptista, Julia ; Baugh, Evan H. ; Bier, Louise ; Bottani, Armand ; Te Carminho A. Rodrigues, Maria resa ; Conlon, Charles ; Fluss, Joel ; Guipponi, Michel ; Kim, Chong Ae ; Matsumoto, Naomichi ; Person, Richard ; Primiano, Michelle ; Rankin, Julia ; Shinawi, Marwan ; Smith-Hicks, Constance ; Telegrafi, Aida ; Toy, Samantha ; Uchiyama, Yuri ; Aggarwal, Vimla ; Goldstein, David B. ; Roche, Katherine W. ; Anyane-Yeboa, Kwame
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-10, Vol.23 (10), p.1912-1921
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Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency
Author / Creator:Agarwal, Niti Sardana ; Northrop, Lesley ; Anyane-Yeboa, Kwame ; Aggarwal, Vimla S. ; Nagy, Peter L. ; Demirdag, Yesim Yilmaz
Publisher:Boston: Springer US
Journal title:Journal of clinical immunology, 2014-08, Vol.34 (6), p.607-610
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Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis
Author / Creator:Braunstein, Evan M ; Monks, Dennis C ; Aggarwal, Vimla S ; Arnold, Jelena S ; Morrow, Bernice E
Publisher:England: BioMed Central Ltd
Journal title:BMC developmental biology, 2009-05, Vol.9 (31), p.31-31
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Rare-variant collapsing analyses for complex traits: guidelines and applications
Author / Creator:Povysil, Gundula ; Petrovski, Slavé ; Hostyk, Joseph ; Aggarwal, Vimla ; Allen, Andrew S. ; Goldstein, David B.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2019-12, Vol.20 (12), p.747-759
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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS
Author / Creator:Dharmadhikari, Avinash V. ; Abad, Maria Alba ; Khan, Sheraz ; Maroofian, Reza ; Sands, Tristan T. ; Ullah, Farid ; Samejima, Itaru ; Shen, Yanwen ; Wear, Martin A. ; Moore, Kiara E. ; Kondakova, Elena ; Mitina, Natalia ; Schaub, Theres ; Lee, Grace K. ; Umandap, Christine H. ; Berger, Sara M. ; Iglesias, Alejandro D. ; Popp, Bernt ; Abou Jamra, Rami ; Gabriel, Heinz ; Rentas, Stefan ; Rippert, Alyssa L. ; Gray, Christopher ; Izumi, Kosuke ; Conlin, Laura K. ; Koboldt, Daniel C. ; Mosher, Theresa Mihalic ; Hickey, Scott E. ; Albert, Dara V. F. ; Norwood, Haley ; Lewanda, Amy Feldman ; Dai, Hongzheng ; Liu, Pengfei ; Mitani, Tadahiro ; Marafi, Dana ; Eker, Hatice Koçak ; Pehlivan, Davut ; Posey, Jennifer E. ; Lippa, Natalie C. ; Vena, Natalie ; Heinzen, Erin L. ; Goldstein, David B. ; Mignot, Cyril ; de Sainte Agathe, Jean-Madeleine ; Al-Sannaa, Nouriya Abbas ; Zamani, Mina ; Sadeghian, Saeid ; Azizimalamiri, Reza ; Seifia, Tahere ; Zaki, Maha S. ; Abdel-Salam, Ghada M. H. ; Abdel-Hamid, Mohamed S. ; Alabdi, Lama ; Alkuraya, Fowzan Sami ; Dawoud, Heba ; Lofty, Aya ; Bauer, Peter ; Zifarelli, Giovanni ; Afzal, Erum ; Zafar, Faisal ; Efthymiou, Stephanie ; Gossett, Daniel ; Towne, Meghan C. ; Yeneabat, Raey ; Perez-Duenas, Belen ; Cazurro-Gutierrez, Ana ; Verdura, Edgard ; Cantarin-Extremera, Veronica ; Marques, Ana do Vale ; Helwak, Aleksandra ; Tollervey, David ; Wontakal, Sandeep N. ; Aggarwal, Vimla S. ; Rosenfeld, Jill A. ; Tarabykin, Victor ; Ohta, Shinya ; Lupski, James R. ; Houlden, Henry ; Earnshaw, William C. ; Davis, Erica E. ; Jeyaprakash, A. Arockia ; Liao, Jun
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2025-02, Vol.16 (1), p.1703-24
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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Author / Creator:Verberne, Eline A. ; Goh, Shuxiang ; England, Jade ; van Ginkel, Manon ; Rafael-Croes, Louise ; Maas, Saskia ; Polstra, Abeltje ; Zarate, Yuri A. ; Bosanko, Katherine A. ; Pechter, Kieran B. ; Bedoukian, Emma ; Izumi, Kosuke ; Chaudhry, Ayeshah ; Robin, Nathaniel H. ; Boothe, Megan ; Lippa, Natalie C. ; Aggarwal, Vimla ; De Vivo, Darryl C. ; Lehman, Anna ; Study, Causes ; Stockler, Sylvia ; Bruel, Ange-Line ; Isidor, Bertrand ; Lemons, Jennifer ; Rodriguez-Buritica, David F. ; Richmond, Christopher M. ; Stark, Zornitza ; Agrawal, Pankaj B. ; Kooy, R. Frank ; Meuwissen, Marije E. C. ; Koolen, David A. ; Pfundt, Rolf ; Lieden, Agne ; Anderlid, Britt-Marie ; Glatz, Dagmar ; Mannens, Marcel M. A. M. ; Bakshi, Madhura ; Mallette, Frédérick A. ; van Haelst, Mieke M. ; Campeau, Philippe M.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-02, Vol.23 (2), p.374-383
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Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies
Author / Creator: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 W ; Jalili, Vahid ; Fu, Jack ; Wong, Isaac ; Collins, Ryan L ; Zhao, Xuefang ; Austin-Tse, Christina A ; Evangelista, Emily ; Lemire, Gabrielle ; Aggarwal, Vimla ; Lucente, Diane ; Gauthier, Laura D ; Tolonen, Charlotte ; Sahakian, Nareh ; Stevens, Christine ; Joon-Yong, An ; Dong, Shan ; Norton, Mary E ; Mackenzie, Tippi ; Devlin, Bernie ; Gilmore, Kelly ; Powell, Bradford ; Brandt, Alicia ; Vetrini, Francesco ; Divito, Michelle ; Sanders, Stephan J ; Macarthur, Daniel G ; Hodge, Jennelle C ; O'donnell-Luria, Anne ; Rehm, Heidi ; Vora, Neeta ; Levy, Brynn ; Brand, Harrison ; Wapner, Ronald ; Talkowski, Michael E
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2022-09
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ArticlesPeer ReviewedFull Text
Tbx1 and Brn4regulate retinoic acid metabolic genes during cochlear morphogenesis
Author / Creator:Braunstein, Evan M ; Monks, Dennis C ; Aggarwal, Vimla S ; Arnold, Jelena S ; Morrow, Bernice E
Journal title:BMC developmental biology, 2009-05, Vol.9 (1), Article 31
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A new case of severe hemophilia and Moyamoya (SHAM) syndrome
Author / Creator:Bilancia, Colleen G ; Varma, Hemant ; Aggarwal, Vimla
Publisher:Northfield: College of American Pathologists
Journal title:CAP Today, 2016-08, Vol.30 (8), p.74
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A rare case of Diamond Blackfan anemia: identifying the causative mutation using NGS
Author / Creator:Ganapathi, Mythily ; Thomsen, Matthew ; Vossoughi, Sarah ; Vundavalli, Murty ; Bhagat, Govind ; Mansukhani, Mahesh ; Aggarwal, Vimla S
Publisher:Northfield: College of American Pathologists
Journal title:CAP Today, 2016-07, Vol.30 (7), p.52
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High technology: economic hope or hoax? high technology industries may provide mankind with a number of useful, and even entertaining, devices, but they will not solve all our problems or make everyon...
Author / Creator:Aggarwal, Vimla ; Aggarwal, Sumer C
Journal title:Business horizons, 1984-02, Vol.27, p.477-451
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Ideational Item / The Control Gap at the Top
Author / Creator:Aggarwal, Sumer C ; Aggarwal, Vimla S
Publisher:Bloomington: Published for the Indiana University Kelley School of Business by Elsevier Science, Inc., etc.
Journal title:Business horizons, 1985-05, Vol.28 (3), p.27
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The control gap at the top
Author / Creator:Aggarwal, Sumer C ; Aggarwal, Vimla S
Publisher:Greenwich: Elsevier Inc
Journal title:Business horizons, 1985-05, Vol.28 (3), p.27-31
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Showing 1 to 20 of 23 results

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Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

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Causal Genetic Variants in Stillbirth

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The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders

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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

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

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Diagnostic Utility of Exome Sequencing for Kidney Disease

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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

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Tetratricopeptide Repeat Domain 7A (TTC7A) Mutation in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

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Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis

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Rare-variant collapsing analyses for complex traits: guidelines and applications

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

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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

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

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Tbx1 and Brn4regulate retinoic acid metabolic genes during cochlear morphogenesis

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A new case of severe hemophilia and Moyamoya (SHAM) syndrome

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A rare case of Diamond Blackfan anemia: identifying the causative mutation using NGS

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High technology: economic hope or hoax? high technology industries may provide mankind with a number of useful, and even entertaining, devices, but they will not solve all our problems or make everyon...

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Ideational Item / The Control Gap at the Top

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The control gap at the top

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