Catherine Brownstein: search on Z-Library

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1

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

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, S

Journal:

Year:

2015

Language:

english

File:

PDF, 276 KB

english, 2015

2

The global distribution and burden of dengue

Bhatt, Samir, Gething, Peter W., Brady, Oliver J., Messina, Jane P., Farlow, Andrew W., Moyes, Catherine L., Drake, John M., Brownstein, John S., Hoen, Anne G., Sankoh, Osman, Myers, Monica F., George

Journal:

Year:

2013

Language:

english

File:

PDF, 2.45 MB

english, 2013

3

An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis

Peter, Patricia R., Brownstein, Catherine A., Yao, Gang-Qing, Olear, Elizabeth A., Simpson, Christine A., Agrawal, Pankaj B., Carpenter, Thomas O., Insogna, Karl L.

Journal:

AACE Clinical Case Reports

Year:

2016

Language:

english

File:

PDF, 1.08 MB

english, 2016

4

Big Data Opportunities for Global Infectious Disease Surveillance

Hay, Simon I., George, Dylan B., Moyes, Catherine L., Brownstein, John S.

Journal:

Year:

2013

Language:

english

File:

PDF, 280 KB

english, 2013

5

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

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, Jiah

Journal:

BMC Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.12 MB

english, 2018

6

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus

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.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 833 KB

english, 2019

7

Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin ( TG ) gene

Lo, Mindy S., Towne, Meghan, VanNoy, Grace E., Brownstein, Catherine A., Lane, Andrew A., Chatila, Talal A., Agrawal, Pankaj B.

Journal:

Journal of Autoimmunity

Year:

2017

Language:

english

File:

PDF, 618 KB

english, 2017

8

The power of social networking in medicine

Brownstein, Catherine A, Brownstein, John S, Williams, David S, Wicks, Paul, Heywood, James A

Journal:

Nature Biotechnology

Year:

2009

Language:

english

File:

PDF, 357 KB

english, 2009

9

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

Brownstein, Catherine A., Towne, Meghan C., Luquette, Lovelace J., Harris, David J., Marinakis, Nicholas S., Meinecke, Peter, Kutsche, Kerstin, Campeau, Philippe M., Yu, Timothy W., Margulies, David M

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 1.19 MB

english, 2013

10

In vivo characterization of the role of tissue-specific translation elongation factor 1A2 in protein synthesis reveals insights into muscle atrophy

Doig, Jennifer, Griffiths, Lowri A., Peberdy, David, Dharmasaroja, Permphan, Vera, Maria, Davies, Faith J. C., Newbery, Helen J., Brownstein, David, Abbott, Catherine M.

Journal:

Year:

2013

Language:

english

File:

PDF, 433 KB

english, 2013

11

Congenital Heart Defects Due to TAF1 Missense Variants

Morton, Sarah U., Agarwal, Radhika, Madden, Jill A., Genetti, Casie A., Brownstein, Catherine A., LÃ³pez-GirÃ¡ldez, Francesc, Choi, Jungmin, Seidman, Christine E., Seidman, Jonathan G., Lyon, Gholson

Journal:

Circulation: Genomic and Precision Medicine

Year:

2020

File:

PDF, 100 KB

2020

12

Integration of a standardized pharmacogenomic platform for clinical decision support at Boston Children's Hospital

Catherine Brownstein, Vincent A Fusaro, Sarah Savage, Catherine Clinton…

Journal:

BMC Proceedings

Year:

2012

Language:

english

File:

PDF, 83 KB

english, 2012

13

Novel Mutation in CNTNAP1 results in Congenital Hypomyelinating Neuropathy

Mehta, Paulomi, Küspert, Melanie, Bale, Tejus, Brownstein, Catherine A., Towne, Meghan C., De Girolami, Umberto, Shi, Jiahai, Beggs, Alan H., Darras, Basil T., Wegner, Michael, Piao, Xianhua, Agrawal,

Journal:

Year:

2016

Language:

english

File:

PDF, 952 KB

english, 2016

14

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

Deisseroth, Cole A., Birgmeier, Johannes, Bodle, Ethan E., Kohler, Jennefer N., Matalon, Dena R., Nazarenko, Yelena, Genetti, Casie A., Brownstein, Catherine A., Schmitz-Abe, Klaus, Schoch, Kelly, Cop

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1008 KB

english, 2018

15

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Reddy, Hemakumar M, Cho, Kyung-Ah, Lek, Monkol, Estrella, Elicia, Valkanas, Elise, Jones, Michael D, Mitsuhashi, Satomi, Darras, Basil T, Amato, Anthony A, Lidov, Hart GW, Brownstein, Catherine A, Mar

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 462 KB

english, 2016

16

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

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

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 593 KB

english, 2017

17

A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus

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.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 833 KB

2019

18

Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions

Kunst, Catherine B., Mezey, Eva, Brownstein, Michael J., Patterson, David

Journal:

Nature Genetics

Year:

1997

File:

PDF, 548 KB

1997

19

Perceived benefits of sharing health data between people with epilepsy on an online platform

Paul Wicks, Dorothy L. Keininger, Michael P. Massagli, Christine de la Loge, Catherine Brownstein, Jouko Isojärvi, James Heywood

Journal:

Epilepsy & Behavior

Year:

2012

Language:

english

File:

PDF, 786 KB

english, 2012

20

Clinical heterogeneity associated withKCNA1mutations include cataplexy and nonataxic presentations

Brownstein, Catherine A., Beggs, Alan H., Rodan, Lance, Shi, Jiahai, Towne, Meghan C., Pelletier, Renee, Cao, Siqi, Rosenberg, Paul A., Urion, David K., Picker, Jonathan, Tan, Wen-Hann, Agrawal, Panka

Journal:

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

21

The Potential Research Impact of Patient Reported Outcomes on Osteogenesis Imperfecta

Catherine A. Brownstein, Paul Wicks

Journal:

Clinical Orthopaedics and Related Research®

Year:

2010

Language:

english

File:

PDF, 559 KB

english, 2010

22

Persistence of functional hepatocyte-like cells in immune-compromised mice

Catherine M. Payne, Kay Samuel, Anne Pryde, Jason King, David Brownstein, Joerg Schrader, Claire N. Medine, Stuart J. Forbes, John P. Iredale, Philip N. Newsome, David C. Hay

Journal:

Liver International

Year:

2011

Language:

english

File:

PDF, 3.83 MB

english, 2011

23

Refining the Global Spatial Limits of Dengue Virus Transmission by Evidence-Based Consensus

Brady, Oliver J., Gething, Peter W., Bhatt, Samir, Messina, Jane P., Brownstein, John S., Hoen, Anne G., Moyes, Catherine L., Farlow, Andrew W., Scott, Thomas W., Hay, Simon I., Reithinger, Richard

Journal:

PLoS Neglected Tropical Diseases

Year:

2012

Language:

english

File:

PDF, 3.26 MB

english, 2012

24

Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration – experience from a pediatric tertiary care facility

Manzi, Shannon F, Fusaro, Vincent A, Chadwick, Laura, Brownstein, Catherine, Clinton, Catherine, Mandl, Kenneth D, Wolf, Wendy A, Hawkins, Jared B

Journal:

Journal of the American Medical Informatics Association

Year:

2016

Language:

english

File:

PDF, 438 KB

english, 2016

25

Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum

Kinney, Hannah C., Poduri, Annapurna H., Cryan, Jane B., Haynes, Robin L., Teot, Lisa, Sleeper, Lynn A., Holm, Ingrid A., Berry, Gerald T., Prabhu, Sanjay P., Warfield, Simon K., Brownstein, Catherine

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2016

Language:

english

File:

PDF, 2.79 MB

english, 2016

26

Estimating Excess Mortality in Post-Invasion Iraq

Brownstein, Catherine A., Brownstein, John S.

Journal:

Boston Medical and Surgical Journal

Year:

2008

Language:

english

File:

PDF, 345 KB

english, 2008

27

An assessment of clinician and researcher needs for support in the era of genomic medicine

Savage, Sarah K, Ziniel, Sonja I, Stoler, Joan, Margulies, David M, Holm, Ingrid A, Brownstein, Catherine A

Journal:

Personalized Medicine

Year:

2014

Language:

english

File:

PDF, 870 KB

english, 2014

28

Data Sharing in the Undiagnosed Diseases Network

Brownstein, Catherine A., Holm, Ingrid A., Ramoni, Rachel, Goldstein, David B.

Journal:

Year:

2015

Language:

english

File:

PDF, 141 KB

english, 2015

29

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

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, Ra

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 398 KB

english, 2016

30

SCN1A variants associated with sudden infant death syndrome

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, Scha

Journal:

Year:

2018

Language:

english

File:

PDF, 905 KB

english, 2018

31

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

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,

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 2.07 MB

english, 2018

32

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance

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.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 683 KB

english, 2015

33

SLC6A1 Mutation and Ketogenic Diet in epilepsy with myoclonic-atonic seizures

Palmer, Samantha, Towne, Meghan C., Pearl, Phillip L., Pelletier, Renee C., Genetti, Casie A., Shi, Jiahai, Beggs, Alan H., Agrawal, Pankaj B., Brownstein, Catherine A.

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 495 KB

english, 2016

34

eEF1A2 and neuronal degeneration

Abbott, Catherine M., Newbery, Helen J., Squires, Charlotte E., Brownstein, David, Griffiths, Lowri A., Soares, Dinesh C.

Journal:

Biochemical Society Transactions

Year:

2009

Language:

english

File:

PDF, 588 KB

english, 2009

35

Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome

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, Pa

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 1.19 MB

english, 2015

36

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome

Torres, Alcy, Brownstein, Catherine A., Tembulkar, Sahil K., Graber, Kelsey, Genetti, Casie, Kleiman, Robin J., Sweadner, Kathleen J., Mavros, Chrystal, Liu, Kevin X., Smedemark-Margulies, Niklas, Mas

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

Language:

english

File:

PDF, 753 KB

english, 2018

37

A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood

Keywan, Christine, Holm, Ingrid A., Poduri, Annapurna, Brownstein, Catherine A., Alexandrescu, Sanda, Chen, Jennifer, Geffre, Christopher, Goldstein, Richard D.

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 394 KB

2020

38

Withdrawn Article

Torres, Alcy, Brownstein, Catherine A., Tembulkar, Sahil K., Graber, Kelsey, Genetti, Casie, Kleiman, Robin J., Sweadner, Kathleen, Liu, Kevin X., Mavros, Chrystal, Smedemark-Margulies, Niklas, Agrawa

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 41 KB

english, 2019

39

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

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, Luqu

Journal:

Year:

2014

Language:

english

File:

PDF, 828 KB

english, 2014

40

4.50 MARKEDLY HIGHER BURDEN OF SCHIZOPHRENIA-ASSOCIATED COPY NUMBER VARIANTS IN VERY EARLY-ONSET PSYCHOSIS (VEOP) COMPARED TO THE ADULT SCHIZOPHRENIA POPULATION

Brownstein, Catherine, Hojlo, Margaret, Garvey, Emily, D'Angelo, Eugene, Gorman, Mark, Carroll, Devon, Deo, Anthony, Glahn, David, Torres, Alcy, Gonzalez-Heydrich, Joseph

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2019

Language:

english

File:

PDF, 124 KB

english, 2019

41

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

Smedemark-Margulies, Niklas, Brownstein, Catherine A., Vargas, Sigella, Tembulkar, Sahil K., Towne, Meghan C., Shi, Jiahai, Gonzalez-Cuevas, Elisa, Liu, Kevin X., Bilguvar, Kaya, Kleiman, Robin J., Ha

Journal:

Molecular Case Studies

Year:

2016

Language:

english

File:

PDF, 1.67 MB

english, 2016

42

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

Morton, Sarah U., Prabhu, Sanjay P., Lidov, Hart G.W., Shi, Jiahai, Anselm, Irina, Brownstein, Catherine A., Bainbridge, Matthew N., Beggs, Alan H., Vargas, Sara O., Agrawal, Pankaj B.

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 2.79 MB

english, 2017

43

6.15 UBQLN2 in Very Early Onset Psychosis

Brownstein, Catherine, Klim, Joseph, Flannick, Jason, D'Angelo, Eugene, Carroll, Devon, Munshi, Kaizad, Stephens, Kyle J., Mavros, Chrystal F., Eggan, Kevin, Gonzalez-Heydrich, Joseph

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2018

Language:

english

File:

PDF, 124 KB

english, 2018

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