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Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. [electronic resource] by
- Rosell, Allyn McConkie
- Pena, Loren D M
- Schoch, Kelly
- Spillmann, Rebecca
- Sullivan, Jennifer
- Hooper, Stephen R
- Jiang, Yong-Hui
- Mathey-Andrews, Nicolas
- Goldstein, David B
- Shashi, Vandana
Producer: 20171116
In:
Journal of genetic counseling vol. 25
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Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation. [electronic resource] by
- McCrory, Nicholas M
- Edick, Mathew J
- Ahmad, Ayesha
- Lipinski, Susan
- Scott Schwoerer, Jessica A
- Zhai, Shaohui
- Justice, Kaitlin
- Cameron, Cynthia A
- Berry, Susan A
- Pena, Loren D M
Producer: 20170615
In:
The Journal of pediatrics vol. 180
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Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. [electronic resource] by
- Pena, Loren D M
- van Calcar, Sandra C
- Hansen, Joyanna
- Edick, Mathew J
- Walsh Vockley, Cate
- Leslie, Nancy
- Cameron, Cynthia
- Mohsen, Al-Walid
- Berry, Susan A
- Arnold, Georgianne L
- Vockley, Jerry
Producer: 20171212
In:
Molecular genetics and metabolism vol. 118
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A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa. [electronic resource] by
- Thurberg, Beth L
- Carlier, Pierre
- Kissel, John T
- Schoser, Benedikt
- Pestronk, Alan
- Barohn, Richard J
- Goker-Alpan, Ozlem
- Mozaffar, Tahseen
- Pena, Loren D M
- Simmons, Zachary
- Straub, Volker
- Young, Peter
- Shafi, Raheel
- Bjartmar, Carl
- van der Ploeg, Ans
Publication details: Journal of neuromuscular diseases
In:
Journal of neuromuscular diseases vol. 2
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Characteristics of undiagnosed diseases network applicants: implications for referring providers. [electronic resource] by
- Walley, Nicole M
- Pena, Loren D M
- Hooper, Stephen R
- Cope, Heidi
- Jiang, Yong-Hui
- McConkie-Rosell, Allyn
- Sanders, Camilla
- Schoch, Kelly
- Spillmann, Rebecca C
- Strong, Kimberly
- McCray, Alexa T
- Mazur, Paul
- Esteves, Cecilia
- LeBlanc, Kimberly
- Wise, Anastasia L
- Shashi, Vandana
Producer: 20181219
In:
BMC health services research vol. 18
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Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. [electronic resource] by
- Hahn, Si Houn
- Kronn, David
- Leslie, Nancy D
- Pena, Loren D M
- Tanpaiboon, Pranoot
- Gambello, Michael J
- Gibson, James B
- Hillman, Richard
- Stockton, David W
- Day, John W
- Wang, Raymond Y
- An Haack, Kristina
- Shafi, Raheel
- Sparks, Susan
- Zhao, Yang
- Wilson, Catherine
- Kishnani, Priya S
Producer: 20190226
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. [electronic resource] by
- Kishnani, Priya S
- Gibson, James B
- Gambello, Michael J
- Hillman, Richard
- Stockton, David W
- Kronn, David
- Leslie, Nancy D
- Pena, Loren D M
- Tanpaiboon, Pranoot
- Day, John W
- Wang, Raymond Y
- Goldstein, Jennifer L
- An Haack, Kristina
- Sparks, Susan E
- Zhao, Yang
- Hahn, Si Houn
Producer: 20200427
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
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Further evidence for the involvement of [electronic resource] by
- Tan, Queenie K-G
- Cope, Heidi
- Spillmann, Rebecca C
- Stong, Nicholas
- Jiang, Yong-Hui
- McDonald, Marie T
- Rothman, Jennifer A
- Butler, Megan W
- Frush, Donald P
- Lachman, Ralph S
- Lee, Brendan
- Bacino, Carlos A
- Bonner, Melanie J
- McCall, Chad M
- Pendse, Avani A
- Walley, Nicole
- Shashi, Vandana
- Pena, Loren D M
Producer: 20190731
In:
Cold Spring Harbor molecular case studies vol. 4
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Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study. [electronic resource] by
- Pena, Loren D M
- Barohn, Richard J
- Byrne, Barry J
- Desnuelle, Claude
- Goker-Alpan, Ozlem
- Ladha, Shafeeq
- Laforêt, Pascal
- Mengel, Karl Eugen
- Pestronk, Alan
- Pouget, Jean
- Schoser, Benedikt
- Straub, Volker
- Trivedi, Jaya
- Van Damme, Philip
- Vissing, John
- Young, Peter
- Kacena, Katherine
- Shafi, Raheel
- Thurberg, Beth L
- Culm-Merdek, Kerry
- van der Ploeg, Ans T
Producer: 20200601
In:
Neuromuscular disorders : NMD vol. 29
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Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. [electronic resource] by
- van der Ploeg, Ans
- Carlier, Pierre G
- Carlier, Robert-Yves
- Kissel, John T
- Schoser, Benedikt
- Wenninger, Stephan
- Pestronk, Alan
- Barohn, Richard J
- Dimachkie, Mazen M
- Goker-Alpan, Ozlem
- Mozaffar, Tahseen
- Pena, Loren D M
- Simmons, Zachary
- Straub, Volker
- Guglieri, Michela
- Young, Peter
- Boentert, Matthias
- Baudin, Pierre-Yves
- Wens, Stephan
- Shafi, Raheel
- Bjartmar, Carl
- Thurberg, Beth L
Producer: 20171207
In:
Molecular genetics and metabolism vol. 119
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Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. [electronic resource] by
- Van Hove, Johan L K
- Freehauf, Cynthia L
- Ficicioglu, Can
- Pena, Loren D M
- Moreau, Kerrie L
- Henthorn, Thomas K
- Christians, Uwe
- Jiang, Hua
- Cowan, Tina M
- Young, Sarah P
- Hite, Michelle
- Friederich, Marisa W
- Stabler, Sally P
- Spector, Elaine B
- Kronquist, Kathryn E
- Thomas, Janet A
- Emmett, Peggy
- Harrington, Mary J
- Pyle, Laura
- Creadon-Swindell, Geralyn
- Wempe, Michael F
- MacLean, Kenneth N
Producer: 20200625
In:
Journal of inherited metabolic disease vol. 42
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. [electronic resource] by
- Liu, Ning
- Schoch, Kelly
- Luo, Xi
- Pena, Loren D M
- Bhavana, Venkata Hemanjani
- Kukolich, Mary K
- Stringer, Sarah
- Powis, Zöe
- Radtke, Kelly
- Mroske, Cameron
- Deak, Kristen L
- McDonald, Marie T
- McConkie-Rosell, Allyn
- Markert, M Louise
- Kranz, Peter G
- Stong, Nicholas
- Need, Anna C
- Bick, David
- Amaral, Michelle D
- Worthey, Elizabeth A
- Levy, Shawn
- Wangler, Michael F
- Bellen, Hugo J
- Shashi, Vandana
- Yamamoto, Shinya
Producer: 20190312
In:
Human molecular genetics vol. 27
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. [electronic resource] by
- Pena, Loren D M
- Jiang, Yong-Hui
- Schoch, Kelly
- Spillmann, Rebecca C
- Walley, Nicole
- Stong, Nicholas
- Rapisardo Horn, Sarah
- Sullivan, Jennifer A
- McConkie-Rosell, Allyn
- Kansagra, Sujay
- Smith, Edward C
- El-Dairi, Mays
- Bellet, Jane
- Keels, Martha Ann
- Jasien, Joan
- Kranz, Peter G
- Noel, Richard
- Nagaraj, Shashi K
- Lark, Robert K
- Wechsler, Daniel S G
- Del Gaudio, Daniela
- Leung, Marco L
- Hendon, Laura G
- Parker, Collette C
- Jones, Kelly L
- Goldstein, David B
- Shashi, Vandana
Producer: 20180926
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
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17.
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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. [electronic resource] by
- Keppler-Noreuil, Kim M
- Sapp, Julie C
- Lindhurst, Marjorie J
- Parker, Victoria E R
- Blumhorst, Cathy
- Darling, Thomas
- Tosi, Laura L
- Huson, Susan M
- Whitehouse, Richard W
- Jakkula, Eveliina
- Grant, Ian
- Balasubramanian, Meena
- Chandler, Kate E
- Fraser, Jamie L
- Gucev, Zoran
- Crow, Yanick J
- Brennan, Leslie Manace
- Clark, Robin
- Sellars, Elizabeth A
- Pena, Loren D M
- Krishnamurty, Vidya
- Shuen, Andrew
- Braverman, Nancy
- Cunningham, Michael L
- Sutton, V Reid
- Tasic, Velibor
- Graham, John M
- Geer, Joseph
- Henderson, Alex
- Semple, Robert K
- Biesecker, Leslie G
Producer: 20150818
In:
American journal of medical genetics. Part A vol. 164A
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18.
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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. [electronic resource] by
- Shashi, Vandana
- Pena, Loren D M
- Kim, Katherine
- Burton, Barbara
- Hempel, Maja
- Schoch, Kelly
- Walkiewicz, Magdalena
- McLaughlin, Heather M
- Cho, Megan
- Stong, Nicholas
- Hickey, Scott E
- Shuss, Christine M
- Freemark, Michael S
- Bellet, Jane S
- Keels, Martha Ann
- Bonner, Melanie J
- El-Dairi, Maysantoine
- Butler, Megan
- Kranz, Peter G
- Stumpel, Constance T R M
- Klinkenberg, Sylvia
- Oberndorff, Karin
- Alawi, Malik
- Santer, Rene
- Petrovski, Slavé
- Kuismin, Outi
- Korpi-Heikkilä, Satu
- Pietilainen, Olli
- Aarno, Palotie
- Kurki, Mitja I
- Hoischen, Alexander
- Need, Anna C
- Goldstein, David B
- Kortüm, Fanny
Publication details: American journal of human genetics 01 2017
In:
American journal of human genetics vol. 100
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19.
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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. [electronic resource] by
- Shashi, Vandana
- Pena, Loren D M
- Kim, Katherine
- Burton, Barbara
- Hempel, Maja
- Schoch, Kelly
- Walkiewicz, Magdalena
- McLaughlin, Heather M
- Cho, Megan
- Stong, Nicholas
- Hickey, Scott E
- Shuss, Christine M
- Freemark, Michael S
- Bellet, Jane S
- Keels, Martha Ann
- Bonner, Melanie J
- El-Dairi, Maysantoine
- Butler, Megan
- Kranz, Peter G
- Stumpel, Constance T R M
- Klinkenberg, Sylvia
- Oberndorff, Karin
- Alawi, Malik
- Santer, Rene
- Petrovski, Slavé
- Kuismin, Outi
- Korpi-Heikkilä, Satu
- Pietilainen, Olli
- Aarno, Palotie
- Kurki, Mitja I
- Hoischen, Alexander
- Need, Anna C
- Goldstein, David B
- Kortüm, Fanny
Producer: 20170524
In:
American journal of human genetics vol. 99
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IRF2BPL Is Associated with Neurological Phenotypes. [electronic resource] by
- Marcogliese, Paul C
- Shashi, Vandana
- Spillmann, Rebecca C
- Stong, Nicholas
- Rosenfeld, Jill A
- Koenig, Mary Kay
- Martínez-Agosto, Julián A
- Herzog, Matthew
- Chen, Agnes H
- Dickson, Patricia I
- Lin, Henry J
- Vera, Moin U
- Salamon, Noriko
- Graham, John M
- Ortiz, Damara
- Infante, Elena
- Steyaert, Wouter
- Dermaut, Bart
- Poppe, Bruce
- Chung, Hyung-Lok
- Zuo, Zhongyuan
- Lee, Pei-Tseng
- Kanca, Oguz
- Xia, Fan
- Yang, Yaping
- Smith, Edward C
- Jasien, Joan
- Kansagra, Sujay
- Spiridigliozzi, Gail
- El-Dairi, Mays
- Lark, Robert
- Riley, Kacie
- Koeberl, Dwight D
- Golden-Grant, Katie
- Yamamoto, Shinya
- Wangler, Michael F
- Mirzaa, Ghayda
- Hemelsoet, Dimitri
- Lee, Brendan
- Nelson, Stanley F
- Goldstein, David B
- Bellen, Hugo J
- Pena, Loren D M
Publication details: American journal of human genetics 09 2018
In:
American journal of human genetics vol. 103
Availability: No items available.
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