Posey, Jennifer E.: search on Z-Library

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1

Windows on history: photographs from the Ringling Circus Museum

Posey, Jennifer Lemmer

Journal:

Early Popular Visual Culture

Year:

2018

Language:

english

File:

PDF, 3.97 MB

english, 2018

2

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten,

Journal:

Annals of Clinical and Translational Neurology

Year:

2018

Language:

english

File:

PDF, 516 KB

english, 2018

3

The phenotypic spectrum of Xia-Gibbs syndrome

Jiang, Yunyun, Wangler, Michael F., McGuire, Amy L., Lupski, James R., Posey, Jennifer E., Khayat, Michael M., Murdock, David R., Sanchez-Pulido, Luis, Ponting, Chris P., Xia, Fan, Hunter, Jill V., Me

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 960 KB

english, 2018

4

Paliperidone for Irritability in Autistic Disorder

Stigler, Kimberly A., Erickson, Craig A., Mullett, Jennifer E., Posey, David J., McDougle, Christopher J.

Journal:

Journal of Child and Adolescent Psychopharmacology

Year:

2010

Language:

english

File:

PDF, 61 KB

english, 2010

5

Cellular and Animal Models in Human Genomics Research || Introduction to Human Genetics

Posey, Jennifer E.

Year:

2019

File:

PDF, 528 KB

2019

6

Assessment of Treatment With Sorafenib Plus Doxorubicin vs Sorafenib Alone in Patients With Advanced Hepatocellular Carcinoma

Abou-Alfa, Ghassan K., Shi, Qian, Knox, Jennifer J., Kaubisch, Andreas, Niedzwiecki, Donna, Posey, James, Tan, Benjamin R., Kavan, Petr, Goel, Rakesh, Lammers, Philip E., Bekaii-Saab, Tanios S., Tam,

Journal:

Year:

2019

Language:

english

File:

PDF, 293 KB

english, 2019

7

Engineered CAR T Cells Targeting the Cancer-Associated Tn-Glycoform of the Membrane Mucin MUC1 Control Adenocarcinoma

Posey, Avery D., Schwab, Robert D., Boesteanu, Alina C., Steentoft, Catharina, Mandel, Ulla, Engels, Boris, Stone, Jennifer D., Madsen, Thomas D., Schreiber, Karin, Haines, Kathleen M., Cogdill, Alexa

Journal:

Year:

2016

Language:

english

File:

PDF, 4.19 MB

english, 2016

8

Genome sequencing and implications for rare disorders

Posey, Jennifer E.

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 1.25 MB

english, 2019

9

Description and assessment of a pilot interprofessional education case competition activity

Posey, Savannah, Brady, Jessica, Pate, Kristen, Smith, Jennifer, Peveto, Sherry

Journal:

Currents in Pharmacy Teaching and Learning

Year:

2018

Language:

english

File:

PDF, 166 KB

english, 2018

10

Induction of hemeoxygenase-1 attenuates the hypertension and renal inflammation in spontaneously hypertensive rats

Ahmed A. Elmarakby, Jessica Faulkner, Sam P. Posey, Jennifer C. Sullivan

Journal:

Pharmacological Research

Year:

2010

Language:

english

File:

PDF, 1.06 MB

english, 2010

11

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey, Jennifer E., Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A., James, Regis A., Coban Akdemir, Zeynep H., Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L., Mu

Journal:

New England Journal of Medicine

Year:

2017

Language:

english

File:

PDF, 1.06 MB

english, 2017

12

Clinical genomics and contextualizing genome variation in the diagnostic laboratory

Lupski, James R., Liu, Pengfei, Stankiewicz, Pawel, Carvalho, Claudia M. B., Posey, Jennifer E.

Journal:

Expert Review of Molecular Diagnostics

Year:

2020

File:

PDF, 858 KB

2020

13

A retrospective study of memantine in children and adolescents with pervasive developmental disorders

Craig A. Erickson, David J. Posey, Kimberly A. Stigler, Jennifer Mullett, Adrian R. Katschke, Christopher J. McDougle

Journal:

Psychopharmacology

Year:

2007

Language:

english

File:

PDF, 130 KB

english, 2007

14

Phenotypic expansion illuminates multilocus pathogenic variation

Karaca, Ender, Posey, Jennifer E, Coban Akdemir, Zeynep, Pehlivan, Davut, Harel, Tamar, Jhangiani, Shalini N, Bayram, Yavuz, Song, Xiaofei, Bahrambeigi, Vahid, Yuregir, Ozge Ozalp, Bozdogan, Sevcan, Y

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1.99 MB

english, 2018

15

Influenza-Associated Deaths among Children in the United States, 2003–2004

Bhat, Niranjan, Wright, Jennifer G., Broder, Karen R., Murray, Erin L., Greenberg, Michael E., Glover, Maleeka J., Likos, Anna M., Posey, Drew L., Klimov, Alexander, Lindstrom, Stephen E., Balish, Ama

Journal:

Boston Medical and Surgical Journal

Year:

2005

Language:

english

File:

PDF, 117 KB

english, 2005

16

A Pilot Trial of GM-CSF and MDX-H210 in Patients with erbB-2-Positive Advanced Malignancies

Posey, James A., Raspet, Regina, Verma, Udit, Deo, Yashwant M., Keller, Tibor, Marshall, John L., Hodgson, Jennifer, Mazumder, Amitabha, Hawkins, Michael J.

Journal:

Journal of Immunotherapy

Year:

1999

File:

PDF, 644 KB

1999

17

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldo

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.31 MB

english, 2018

18

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Karaca, Ender, Posey, Jennifer E., Bostwick, Bret, Liu, Pengfei, Gezdirici, Alper, Yesil, Gozde, Coban Akdemir, Zeynep, Bayram, Yavuz, Harms, Frederike L., Meinecke, Peter, Alawi, Malik, Bacino, Carlo

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 2.02 MB

english, 2019

19

Generating Relevant Information from Patients in the Technology-Enhanced Era of Patient-Focused Drug Development: Opportunities and Challenges

Reaney, Matthew, Cline, Jennifer, Wilson, James C., Posey, Michael

Journal:

The Patient: Patient-Centered Outcomes Research

Year:

2020

File:

PDF, 535 KB

2020

20

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

Gu, Shen, Posey, Jennifer E., Yuan, Bo, Carvalho, Claudia M.B., Luk, H.M., Erikson, Kelly, Lo, Ivan F.M., Leung, Gordon K.C., Pickering, Curtis R., Chung, Brian H.Y., Lupski, James R.

Journal:

Year:

2016

Language:

english

File:

PDF, 576 KB

english, 2016

21

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Charng, Wu-Lin, Karaca, Ender, Coban Akdemir, Zeynep, Gambin, Tomasz, Atik, Mehmed M., Gu, Shen, Posey, Jennifer E., Jhangiani, Shalini N., Muzny, Donna M., Doddapaneni, Harsha, Hu, Jianhong, Boerwink

Journal:

BMC Medical Genomics

Year:

2016

Language:

english

File:

PDF, 3.68 MB

english, 2016

22

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

Falah, Nadia, Posey, Jennifer E., Thorson, Willa, Benke, Paul, Tekin, Mustafa, Tarshish, Brocha, Lupski, James R., Harel, Tamar

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 394 KB

english, 2017

23

Phenotypic expansion of POGZ ‐related intellectual disability syndrome (White‐Sutton syndrome)

Assia Batzir, Nurit, Posey, Jennifer E., Song, Xiaofei, Akdemir, Zeynep Coban, Rosenfeld, Jill A., Brown, Chester W., Chen, Emily, Holtrop, Shannon G., Mizerik, Elizabeth, Nieto Moreno, Margarita, Pay

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 2.70 MB

english, 2019

24

POGZ truncating alleles cause syndromic intellectual disability

White, Janson, Beck, Christine R., Harel, Tamar, Posey, Jennifer E., Jhangiani, Shalini N., Tang, Sha, Farwell, Kelly D., Powis, Zöe, Mendelsohn, Nancy J., Baker, Janice A., Pollack, Lynda, Mason, Kat

Journal:

Genome Medicine

Year:

2016

Language:

english

File:

PDF, 3.33 MB

english, 2016

25

A Diagnostic Ceiling for Exome Sequencing in Cerebellar Ataxia and Related Neurological Disorders

Ngo, Kathie J., Rexach, Jessica E., Lee, Hane, Petty, Lauren E., Perlman, Susan, Valera, Juliana M., Deignan, Joshua L., Mao, Yuanming, Aker, Mamdouh, Posey, Jennifer E., Jhangiani, Shalini N, Coban‐A

Journal:

Year:

2019

Language:

english

File:

PDF, 437 KB

english, 2019

26

A prospective open-label study of aripiprazole in fragile X syndrome

Craig A. Erickson, Kimberly A. Stigler, Logan K. Wink, Jennifer E. Mullett, Arlene Kohn, David J. Posey, Christopher J. McDougle

Journal:

Psychopharmacology

Year:

2011

Language:

english

File:

PDF, 123 KB

english, 2011

27

A new device for extracting living invertebrates from large samples of leaf litter

Richard L Wyman, Elbert Posey, Kelly S MacWatters, Jennifer Frank, Jean Palange

Journal:

Applied Soil Ecology

Year:

1999

Language:

english

File:

PDF, 136 KB

english, 1999

28

Phenotypic expansion of POGZ ‐related intellectual disability syndrome (White‐Sutton syndrome)

Assia Batzir, Nurit, Posey, Jennifer E., Song, Xiaofei, Akdemir, Zeynep Coban, Rosenfeld, Jill A., Brown, Chester W., Chen, Emily, Holtrop, Shannon G., Mizerik, Elizabeth, Nieto Moreno, Margarita, Pay

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 2.70 MB

2019

29

Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome

Posey, Jennifer E., Dariya, Vedanta, Edmonds, Joseph L., Lee, Edward I., Probst, Frank J., Premkumar, Muralidhar H.

Journal:

European Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 3.12 MB

english, 2014

30

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Posey, Jennifer E., Westerfield, Monte, Postlethwait, John, Hieter, Philip, Boycott, Kym M., Campeau, Philippe M., Bellen, Hugo J.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.51 MB

english, 2017

31

Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

Aird, Alejandra, Lagos, Macarena, Vargas-Hernández, Alexander, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini, Mace, Emily M., Reyes, Anaid, King, Alejandra, Cavagnaro, Felipe, Forbes,

Journal:

Frontiers in Pediatrics

Year:

2019

Language:

english

File:

PDF, 2.71 MB

english, 2019

32

Target DNA Structure Plays a Critical Role in RAG Transposition

Posey, Jennifer E., Pytlos, Malgorzata J., Sinden, Richard R., Roth, David B.

Journal:

Year:

2006

Language:

english

File:

PDF, 504 KB

english, 2006

33

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

James, Regis A., Campbell, Ian M., Chen, Edward S., Boone, Philip M., Rao, Mitchell A., Bainbridge, Matthew N., Lupski, James R., Yang, Yaping, Eng, Christine M., Posey, Jennifer E., Shaw, Chad A.

Journal:

Genome Medicine

Year:

2016

Language:

english

File:

PDF, 2.45 MB

english, 2016

34

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fon

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 609 KB

english, 2018

35

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

Punetha, Jaya, Mackay-Loder, Loren, Harel, Tamar, Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Gibbs, Richard A., Lee, Ian, Terespolsky, Deborah, Lupski, James R., Posey, Jennifer E.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 703 KB

english, 2018

36

Molecular diagnostic experience of whole-exome sequencing in adult patients

Posey, Jennifer E., Rosenfeld, Jill A., James, Regis A., Bainbridge, Matthew, Niu, Zhiyv, Wang, Xia, Dhar, Shweta, Wiszniewski, Wojciech, Akdemir, Zeynep H. C., Gambin, Tomasz, Xia, Fan, Person, Richa

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 606 KB

english, 2015

37

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

Lumaka, Aimé, Race, Valerie, Peeters, Hilde, Corveleyn, Anniek, Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Song, Xiaofei, Mubungu, Gerrye, Posey, Jennifer, Lupski, James R., Vermeesch, Joris R., Lu

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 2.00 MB

english, 2018

38

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Bostwick, Bret L., McLean, Scott, Posey, Jennifer E., Streff, Haley E., Gripp, Karen W., Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A., Farrelly, Ellyn, Hudgins, Louanne,

Journal:

Genome Medicine

Year:

2017

Language:

english

File:

PDF, 5.67 MB

english, 2017

39

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Dias, Caroline M., Punetha, Jaya, Zheng, Céline, Mazaheri, Neda, Rad, Abolfazl, Efthymiou, Stephanie, Petersen, Andrea, Dehghani, Mohammadreza, Pehlivan, Davut, Partlow, Jennifer N., Posey, Jennifer E

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 1.84 MB

english, 2019

40

Paradigm switching in the germinal center

Posey, Jennifer E, Brandt, Vicky L, Roth, David B

Journal:

Nature Immunology

Year:

2004

Language:

english

File:

PDF, 642 KB

english, 2004

41

Cellular and Animal Models in Human Genomics Research || Introduction to Human Genetics

Posey, Jennifer E.

Year:

2019

Language:

english

File:

PDF, 528 KB

english, 2019

42

TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family

Streff, Haley, Posey, Jennifer E., Mauer, Caitlin B., Krempely, Kate, Potocki, Lorraine, Northrup, Hope

Journal:

Pediatric Neurology

Year:

2020

File:

PDF, 607 KB

2020

43

Lysinuric protein intolerance presenting with multiple fractures

Posey, Jennifer E., Burrage, Lindsay C., Miller, Marcus J., Liu, Pengfei, Hardison, Matthew T., Elsea, Sarah H., Sun, Qin, Yang, Yaping, Willis, Alecia S., Schlesinger, Alan E., Bacino, Carlos A., Lee

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 546 KB

english, 2014

44

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Harel, Tamar, Yoon, Wan Hee, Garone, Caterina, Gu, Shen, Coban-Akdemir, Zeynep, Eldomery, Mohammad K., Posey, Jennifer E., Jhangiani, Shalini N., Rosenfeld, Jill A., Cho, Megan T., Fox, Stephanie, Wit

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 3.41 MB

english, 2016

45

Dominant Transmission Observed in Adolescents and Families with Orthostatic Intolerance

Posey, Jennifer E., Martinez, Rebecca, Lankford, Jeremy E., Lupski, James R., Numan, Mohammed T., Butler, Ian J.

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 496 KB

english, 2016

46

UNDERSTANDING THE GENETIC ETIOLOGY OF CHILDHOOD ONSET ESSENTIAL HYPERTENSION

Copeland, Ian, Posey, Jennifer, Hashmi, Syed, Gupta, Monesha, Hanchard, Neil

Journal:

Journal of the American College of Cardiology

Year:

2018

Language:

english

File:

PDF, 155 KB

english, 2018

47

Identical Genotype B3 Sequences from Measles Patients in 4 Countries, 2005

Rota, Jennifer, Lowe, Luis, Rota, Paul, Bellini, William, Redd, Susan, Dayan, Gustavo, van Binnendijk, Rob, Hahne, Susan, Tipples, Graham, Macey, Jeannette, Espinoza, Rita, Posey, Drew, Plummer, Andre

Journal:

Emerging Infectious Diseases

Year:

2006

Language:

english

File:

PDF, 130 KB

english, 2006

48

Broadening the sea-ice forecaster toolbox with community observations: A case study from the northern Bering Sea

Deemer, Gregory J., Bhatt, Uma S., Eicken, Hajo, Posey, Pamela G., Hutchings, Jennifer K, Nelson, James, Heim, Rebecca, Allard, Richard A., Wiggins, Helen, Creek, Kristina

Journal:

Year:

2017

File:

PDF, 13.28 MB

2017

49

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant

Harel, Tamar, Posey, Jennifer E., Graham, Brett H., Walkiewicz, Magdalena, Yang, Yaping, Lalani, Seema R., Belmont, John W.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 317 KB

english, 2015

50

MP19-18 THE USE OF FORMALIN AS A FIXATIVE FOR TESTICULAR BIOPSIES

Ellenburg, James, Drwiega, Joseph, Posey, Anna, Goldberg, Matthew, Gordetsky, Jennifer, Kolettis, Peter

Journal:

The Journal of Urology

Year:

2018

Language:

english

File:

PDF, 50 KB

english, 2018

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