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16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.
Published in:
Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.924956
By:
- Buttermore, Elizabeth D.;
- Anderson, Nickesha C.;
- Pin-Fang Chen;
- Makhortova, Nina R.;
- Kim, Kristina H.;
- Wafa, Syed M. A.;
- Dwyer, Sean;
- Micozzi, John M.;
- Winden, Kellen D.;
- Bo Zhang;
- Min-Joon Han;
- Kleiman, Robin J.;
- Brownstein, Catherine A.;
- Sahin, Mustafa;
- Gonzalez-Heydrich, Joseph
Publication type:
Article
The role of sodium channels in sudden unexpected death in pediatrics.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1309
By:
- Rochtus, Anne M.;
- Goldstein, Richard D.;
- Holm, Ingrid A.;
- Brownstein, Catherine A.;
- Pérez‐Palma, Eduardo;
- Haynes, Robin;
- Lal, Dennis;
- Poduri, Annapurna H.
Publication type:
Article
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0
By:
- De La Vega, Francisco M.;
- Chowdhury, Shimul;
- Moore, Barry;
- Frise, Erwin;
- McCarthy, Jeanette;
- Hernandez, Edgar Javier;
- Wong, Terence;
- James, Kiely;
- Guidugli, Lucia;
- Agrawal, Pankaj B.;
- Genetti, Casie A.;
- Brownstein, Catherine A.;
- Beggs, Alan H.;
- Löscher, Britt-Sabina;
- Franke, Andre;
- Boone, Braden;
- Levy, Shawn E.;
- Õunap, Katrin;
- Pajusalu, Sander;
- Huentelman, Matt
Publication type:
Article
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0
By:
- De La Vega, Francisco M.;
- Chowdhury, Shimul;
- Moore, Barry;
- Frise, Erwin;
- McCarthy, Jeanette;
- Hernandez, Edgar Javier;
- Wong, Terence;
- James, Kiely;
- Guidugli, Lucia;
- Agrawal, Pankaj B.;
- Genetti, Casie A.;
- Brownstein, Catherine A.;
- Beggs, Alan H.;
- Löscher, Britt-Sabina;
- Franke, Andre;
- Boone, Braden;
- Levy, Shawn E.;
- Õunap, Katrin;
- Pajusalu, Sander;
- Huentelman, Matt
Publication type:
Article
High number of candidate gene variants are identified as disease‐causing in a period of 4 years.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63509
By:
- Hills, Sonia;
- Li, Qifei;
- Madden, Jill A.;
- Genetti, Casie A.;
- Brownstein, Catherine A.;
- Schmitz‐Abe, Klaus;
- Beggs, Alan H.;
- Agrawal, Pankaj B.
Publication type:
Article
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 119, doi. 10.1002/ajmg.a.61926
By:
- Dyment, David A.;
- O'Donnell‐Luria, Anne;
- Agrawal, Pankaj B.;
- Coban Akdemir, Zeynep;
- Aleck, Kyrieckos A.;
- Antaki, Danny;
- Al Sharhan, Hind;
- Au, Ping‐Yee B.;
- Aydin, Hatip;
- Beggs, Alan H.;
- Bilguvar, Kaya;
- Boerwinkle, Eric;
- Brand, Harrison;
- Brownstein, Catherine A.;
- Buyske, Steve;
- Chodirker, Bernard;
- Choi, Jungmin;
- Chudley, Albert E.;
- Clericuzio, Carol L.;
- Cox, Gerald F.
Publication type:
Article
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1299, doi. 10.1002/ajmg.a.61150
By:
- Edward, Heather L.;
- D'Gama, Alissa M.;
- Wojcik, Monica H.;
- Brownstein, Catherine A.;
- Kenna, Margaret A.;
- Grant, P. Ellen;
- Majzoub, Joseph A.;
- Agrawal, Pankaj B.
Publication type:
Article
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2623, doi. 10.1002/ajmg.a.40493
By:
- Wojcik, Monica H.;
- Okada, Kyoko;
- Prabhu, Sanjay P.;
- Nowakowski, Dan W.;
- Ramsey, Keri;
- Balak, Chris;
- Rangasamy, Sampath;
- Brownstein, Catherine A.;
- Schmitz‐Abe, Klaus;
- Cohen, Julie S.;
- Fatemi, Ali;
- Shi, Jiahai;
- Grant, Ellen P.;
- Narayanan, Vinodh;
- Ho, Hsin‐Yi Henry;
- Agrawal, Pankaj B.
Publication type:
Article
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1165, doi. 10.1002/ajmg.a.37595
By:
- Brownstein, Catherine A.;
- Kleiman, Robin J.;
- Engle, Elizabeth C.;
- Towne, Meghan C.;
- D'Angelo, Eugene J.;
- Yu, Timothy W.;
- Beggs, Alan H.;
- Picker, Jonathan;
- Fogler, Jason M.;
- Carroll, Devon;
- Schmitt, Rachel C. O.;
- Wolff, Robert R.;
- Shen, Yiping;
- Lip, Va;
- Bilguvar, Kaya;
- Kim, April;
- Tembulkar, Sahil;
- O'Donnell, Kyle;
- Gonzalez‐Heydrich, Joseph
Publication type:
Article
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2122, doi. 10.1002/ajmg.a.37131
By:
- Russell, Bianca;
- Johnston, Jennifer J.;
- Biesecker, Leslie G.;
- Kramer, Nancy;
- Pickart, Angela;
- Rhead, William;
- Tan, Wen‐Hann;
- Brownstein, Catherine A.;
- Kate Clarkson, L.;
- Dobson, Amy;
- Rosenberg, Avi Z.;
- Vergano, Samantha A. Schrier;
- Helm, Benjamin M.;
- Harrison, Rachel E.;
- Graham, John M.
Publication type:
Article
The power of social networking in medicine.
Published in:
2009
By:
- Brownstein, Catherine A;
- Brownstein, John S;
- Williams III, David S;
- Wicks, Paul;
- Heywood, James A
Publication type:
Letter
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.
Published in:
2015
By:
- Thaker, Vidhu V;
- Esteves, Kristyn M;
- Towne, Meghan C;
- Brownstein, Catherine A;
- James, Philip M;
- Crowley, Laura;
- Hirschhorn, Joel N;
- Elsea, Sarah H;
- Beggs, Alan H;
- Picker, Jonathan;
- Agrawal, Pankaj B
Publication type:
journal article
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.
Published in:
BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0711-9
By:
- Mavros, Chrystal F.;
- Brownstein, Catherine A.;
- Thyagrajan, Roshni;
- Genetti, Casie A.;
- Tembulkar, Sahil;
- Graber, Kelsey;
- Murphy, Quinn;
- Cabral, Kristin;
- VanNoy, Grace E.;
- Bainbridge, Matthew;
- Shi, Jiahai;
- Agrawal, Pankaj B.;
- Beggs, Alan H.;
- D'Angelo, Eugene;
- Gonzalez-Heydrich, Joseph
Publication type:
Article
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
Published in:
2017
By:
- Mehta, Paulomi;
- Küspert, Melanie;
- Bale, Tejus;
- Brownstein, Catherine A.;
- Towne, Meghan C.;
- Girolami, Umberto;
- Shi, Jiahai;
- Beggs, Alan H.;
- Darras, Basil T.;
- Wegner, Michael;
- Piao, Xianhua;
- Agrawal, Pankaj B.;
- Küspert, Melanie;
- De Girolami, Umberto
Publication type:
journal article
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings.
Published in:
PLoS Genetics, 2021, v. 17, n. 7, p. 1, doi. 10.1371/journal.pgen.1009639
By:
- Li, Qifei;
- Dibus, Michal;
- Casey, Alicia;
- Yee, Christina S. K.;
- Vargas, Sara O.;
- Luo, Shiyu;
- Rosen, Samantha M.;
- Madden, Jill A.;
- Genetti, Casie A.;
- Brabek, Jan;
- Brownstein, Catherine A.;
- Kazerounian, Shideh;
- Raby, Benjamin A.;
- Schmitz-Abe, Klaus;
- Kennedy, John C.;
- Fishman, Martha P.;
- Mullen, Mary P.;
- Taylor, Joan M.;
- Rosel, Daniel;
- Agrawal, Pankaj B.
Publication type:
Article
Children's rare disease cohorts: an integrative research and clinical genomics initiative.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0137-0
By:
- Rockowitz, Shira;
- LeCompte, Nicholas;
- Carmack, Mary;
- Quitadamo, Andrew;
- Wang, Lily;
- Park, Meredith;
- Knight, Devon;
- Sexton, Emma;
- Smith, Lacey;
- Sheidley, Beth;
- Field, Michael;
- Holm, Ingrid A.;
- Brownstein, Catherine A.;
- Agrawal, Pankaj B.;
- Kornetsky, Susan;
- Poduri, Annapurna;
- Snapper, Scott B.;
- Beggs, Alan H.;
- Yu, Timothy W.;
- Williams, David A.
Publication type:
Article
Genetic Predisposition to Neurological Complications in Patients with COVID-19.
Published in:
2023
By:
- Sahajpal, Nikhil Shri;
- Hastie, Alex R.;
- Schieck, Maximilian;
- Mondal, Ashis K.;
- Felde, Marc;
- van der Made, Caspar I.;
- Chou, Janet S.;
- Randolph, Adrienne G.;
- Illig, Thomas;
- Zody, Michael C.;
- Brownstein, Catherine A.;
- Beggs, Alan H.;
- Hoischen, Alexander;
- Chaubey, Alka;
- Kolhe, Ravindra
Publication type:
Case Study
Using social media listening to understand barriers to genomic medicine for those living with Ehlers–Danlos syndromes and hypermobility spectrum disorders.
Published in:
Health Expectations, 2023, v. 26, n. 4, p. 1524, doi. 10.1111/hex.13755
By:
- Kline, Erika;
- Garrett, Amanda Leigh;
- Brownstein, Catherine;
- Ziniel, Sonja;
- Payton, Erica;
- Goldin, Aleah;
- Hoffman, Kathleen;
- Chandler, Judy;
- Weber, Shani
Publication type:
Article
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
Published in:
Advanced Genetics, 2023, v. 4, n. 1, p. 1, doi. 10.1002/ggn2.202200013
By:
- Estrella, Elicia;
- Rockowitz, Shira;
- Thorne, Marielle;
- Smith, Pressley;
- Petit, Jeanette;
- Zehnder, Veronica;
- Yu, Richard N.;
- Bauer, Stuart;
- Berde, Charles;
- Agrawal, Pankaj B.;
- Beggs, Alan H.;
- Gharavi, Ali G.;
- Kunkel, Louis;
- Brownstein, Catherine A.
Publication type:
Article
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.
Published in:
Advanced Genetics, 2023, v. 4, n. 1, p. 1, doi. 10.1002/ggn2.202200012
By:
- Brownstein, Catherine A.;
- Douard, Elise;
- Haynes, Robin L.;
- Koh, Hyun Yong;
- Haghighi, Alireza;
- Keywan, Christine;
- Martin, Bree;
- Alexandrescu, Sanda;
- Haas, Elisabeth A.;
- Vargas, Sara O.;
- Wojcik, Monica H.;
- Jacquemont, Sébastien;
- Poduri, Annapurna H.;
- Goldstein, Richard D.;
- Holm, Ingrid A.
Publication type:
Article
Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility.
Published in:
2017
By:
- Manzi, Shannon F.;
- Fusaro, Vincent A.;
- Chadwick, Laura;
- Brownstein, Catherine;
- Clinton, Catherine;
- Mandl, Kenneth D.;
- Wolf, Wendy A.;
- Hawkins, Jared B.
Publication type:
journal article
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
Published in:
2021
By:
- Li, Jianqiao;
- Hojlo, Margaret A;
- Chennuri, Sampath;
- Gujral, Nitin;
- Paterson, Heather L;
- Shefchek, Kent A;
- Genetti, Casie A;
- Cohn, Emily L;
- Sewalk, Kara C;
- Garvey, Emily A;
- Buttermore, Elizabeth D;
- Anderson, Nickesha C;
- Beggs, Alan H;
- Agrawal, Pankaj B;
- Brownstein, John S;
- Haendel, Melissa A;
- Holm, Ingrid A;
- Gonzalez-Heydrich, Joseph;
- Brownstein, Catherine A
Publication type:
journal article
Sharing Health Data for Better Outcomes on PatientsLikeMe.
Published in:
Journal of Medical Internet Research, 2010, v. 12, n. 2, p. 10, doi. 10.2196/jmir.1549
By:
- Wicks, Paul;
- Massagli, Michael;
- Frost, Jeana;
- Brownstein, Catherine;
- Okun, Sally;
- Vaughan, Timothy;
- Bradley, Richard;
- Heywood, James
Publication type:
Article
<italic>SCN1A</italic> variants associated with sudden infant death syndrome.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 4, p. e56, doi. 10.1111/epi.14055
By:
- Brownstein, Catherine A.;
- Goldstein, Richard D.;
- Thompson, Christopher H.;
- Haynes, Robin L.;
- Giles, Emma;
- Sheidley, Beth;
- Bainbridge, Matthew;
- Haas, Elisabeth A.;
- Mena, Othon J.;
- Lucas, Jonathan;
- Schaber, Bethann;
- Holm, Ingrid A.;
- George, Alfred L.;
- Kinney, Hannah C.;
- Poduri, Annapurna H.
Publication type:
Article
Potential for Electronic Health Records and Online Social Networking to Redefine Medical Research.
Published in:
2011
By:
- Pearson, John F.;
- Brownstein, Catherine A.;
- Brownstein, John S.
Publication type:
Book Review
Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series.
Published in:
Children, 2023, v. 10, n. 8, p. 1282, doi. 10.3390/children10081282
By:
- Sun, Jenny;
- Ocay, Don Daniel;
- Halpin, Meghan;
- Lobo, Kimberly;
- Frohman, Dafni F. T.;
- Donado, Carolina;
- Brownstein, Catherine A.;
- Genetti, Casie A.;
- Madden, Anna;
- Berde, Charles B.
Publication type:
Article
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis.
Published in:
2022
By:
- Alecu, Julian E.;
- Saffari, Afshin;
- Jumo, Hellen;
- Ziegler, Marvin;
- Strelko, Oleksandr;
- Brownstein, Catherine A.;
- Gonzalez‐Heydrich, Joseph;
- Rodan, Lance H.;
- Gorman, Mark P.;
- Sahin, Mustafa;
- Ebrahimi‐Fakhari, Darius
Publication type:
Case Study
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 20, p. 2981, doi. 10.1093/hmg/ddad124
By:
- Liu, Zhigang;
- Xin, Baozhong;
- Smith, Iris N;
- Sency, Valerie;
- Szekely, Julia;
- Alkelai, Anna;
- Shuldiner, Alan;
- Efthymiou, Stephanie;
- Rajabi, Farrah;
- Coury, Stephanie;
- Brownstein, Catherine A;
- Rudnik-Schöneborn, Sabine;
- Bruel, Ange-Line;
- Thevenon, Julien;
- Zeidler, Shimriet;
- Jayakar, Parul;
- Schmidt, Axel;
- Cremer, Kirsten;
- Engels, Hartmut;
- Peters, Sophia O
Publication type:
Article
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Published in:
Genome Biology, 2014, v. 15, n. 2, p. R53, doi. 10.1186/gb-2014-15-3-r53
By:
- Brownstein, Catherine A.;
- Beggs, Alan H.;
- Homer, Nils;
- Merriman, Barry;
- Yu, Timothy W.;
- Flannery, Katherine C.;
- DeChene, Elizabeth T.;
- Towne, Meghan C.;
- Savage, Sarah K.;
- Price, Emily N.;
- Holm, Ingrid A.;
- Luquette, Lovelace J.;
- Lyon, Elaine;
- Majzoub, Joseph;
- Neupert, Peter;
- McCallie Jr., David;
- Szolovits, Peter;
- Willard, Huntington F.;
- Mendelsohn, Nancy J.;
- Temme, Renee
Publication type:
Article
New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 518, doi. 10.1111/cge.14578
By:
- Schnur, Rhonda E.;
- Dvořáček, Lukáš;
- Kalsner, Louisa;
- Shapiro, Faye L.;
- Grebeňová, Dana;
- Yanni, Diana;
- Wasserman, Barry N.;
- Agrawal, Pankaj;
- Parker, Margaret;
- Yu, Timothy;
- Douglas, Jessica;
- Young, Vanessa;
- D'Gama, Alissa;
- Hills, Sonia;
- Wojcik, Monika;
- Brownstein, Catherine;
- Genetti, Casie;
- Schmith‐Abe, Klaus;
- Dyer, Lisa M.;
- Antonarakis, Stylianos E.
Publication type:
Article
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 18, p. 3545, doi. 10.1093/hmg/ddx239
By:
- Cao, Siqi;
- Smith, Laura L.;
- Padilla-Lopez, Sergio R.;
- Guida, Brandon S.;
- Blume, Elizabeth;
- Shi, Jiahai;
- Morton, Sarah U.;
- Brownstein, Catherine A.;
- Beggs, Alan H.;
- Kruer, Michael C.;
- Agrawal, Pankaj B.
Publication type:
Article
Integration of a standardized pharmacogenomic platform for clinical decision support at Boston Children's Hospital.
Published in:
2012
By:
- Brownstein, Catherine;
- Fusaro, Vincent A.;
- Savage, Sarah;
- Clinton, Catherine;
- Mandl, Kenneth;
- Margulies, David;
- Wolf, Wendy;
- Manzi, Shannon
Publication type:
Abstract
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 915, doi. 10.1002/humu.22858
By:
- Philippakis, Anthony A.;
- Azzariti, Danielle R.;
- Beltran, Sergi;
- Brookes, Anthony J.;
- Brownstein, Catherine A.;
- Brudno, Michael;
- Brunner, Han G.;
- Buske, Orion J.;
- Carey, Knox;
- Doll, Cassie;
- Dumitriu, Sergiu;
- Dyke, Stephanie O.M.;
- den Dunnen, Johan T.;
- Firth, Helen V.;
- Gibbs, Richard A.;
- Girdea, Marta;
- Gonzalez, Michael;
- Haendel, Melissa A.;
- Hamosh, Ada;
- Holm, Ingrid A.
Publication type:
Article
Data Sharing in the Undiagnosed Diseases Network.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 985, doi. 10.1002/humu.22840
By:
- Brownstein, Catherine A.;
- Holm, Ingrid A.;
- Ramoni, Rachel;
- Goldstein, David B.
Publication type:
Article
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants.
Published in:
Genes, 2023, v. 14, n. 4, p. 779, doi. 10.3390/genes14040779
By:
- Hojlo, Margaret A.;
- Ghebrelul, Merhawi;
- Genetti, Casie A.;
- Smith, Richard;
- Rockowitz, Shira;
- Deaso, Emma;
- Beggs, Alan H.;
- Agrawal, Pankaj B.;
- Glahn, David C.;
- Gonzalez-Heydrich, Joseph;
- Brownstein, Catherine A.
Publication type:
Article
Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.
Published in:
Journal of Bone & Mineral Research, 2024, v. 39, n. 10, p. 1406, doi. 10.1093/jbmr/zjae137
By:
- Goldsweig, Bracha;
- Turk Yilmaz, Rukiye Sena;
- Ravindranath Waikar, Apoorva;
- Brownstein, Catherine;
- Carpenter, Thomas O
Publication type:
Article
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Published in:
Neurogenetics, 2016, v. 17, n. 1, p. 11, doi. 10.1007/s10048-015-0460-2
By:
- Brownstein, Catherine;
- Beggs, Alan;
- Rodan, Lance;
- Shi, Jiahai;
- Towne, Meghan;
- Pelletier, Renee;
- Cao, Siqi;
- Rosenberg, Paul;
- Urion, David;
- Picker, Jonathan;
- Tan, Wen-Hann;
- Agrawal, Pankaj
Publication type:
Article

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