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2019

Clinical features of Pediatric Idiopathic Intracranial Hypertension

Agraz, D., Morgan, L. A., Jain, S. F. & Suh, D. W., 2019, In : Clinical Ophthalmology. 13, p. 881-886 6 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

ADNP Consortium, Feb 15 2019, In : Biological Psychiatry. 85, 4, p. 287-297 11 p.

Research output: Contribution to journalArticle

27 Scopus citations
Open Access
1 Scopus citations

Cord Blood Connect: The International Congress for Cord Blood and Perinatal Tissue Research

Saha, A., Patel, S., Xu, L., Filiano, A. J., Balber, A. E. & Kurtzberg, J., Sep 1 2019, In : Stem Cells Translational Medicine. 8, p. S1-S35

Research output: Contribution to journalArticle

Open Access

Crossing the Line: Care of a Pediatric Patient with Intractable Seizures and Severe Neuropathic Pain in Absence of Access to Medical Marijuana

Weaver, M. S., White, A. G. & Robinson, J., Oct 2019, In : Journal of Palliative Medicine. 22, 10, p. 1232-1235 4 p.

Research output: Contribution to journalArticle

CSF inflammatory markers differ in gram-positive versus gram-negative shunt infections

Skar, G. L., Synhorst, D., Beaver, M. & Snowden, J. N., Jan 9 2019, In : Journal of Neuroinflammation. 16, 1, 7.

Research output: Contribution to journalArticle

1 Scopus citations

Cystic fibrosis related diabetes: Nutrition and growth considerations

Kaminski, B. A., Goldsweig, B. K., Sidhaye, A., Blackman, S. M., Schindler, T. & Moran, A., Oct 2019, In : Journal of Cystic Fibrosis. 18, p. S32-S37

Research output: Contribution to journalArticle

4 Scopus citations

Decreasing disruptive behaviour during routine dental visits: a video modelling intervention for young children

Hine, J. F., Hajek, R. T., Roberts, H. J. & Allen, K. D., Aug 2019, In : International Dental Journal. 69, 4, p. 265-272 8 p.

Research output: Contribution to journalArticle

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordaß, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernández-Jaén, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., Utzig, N. & 18 others, Koudijs, S. M., McGregor, L., Maas, S. M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A. S., Engle, E. C., Houge, G., Gradek, G. A., Douglas, A. G. L., Longman, C., Joss, S., Velasco, D., Hennekam, R. C., Hirata, H. & Kalscheuer, V. M., Dec 1 2019, In : Human mutation. 40, 12, p. 2270-2285 16 p.

Research output: Contribution to journalArticle

1 Scopus citations

Demonstrating the Impact of Colocated Behavioral Health in Pediatric Primary Care

Valleley, R. J., Meadows, T. J., Burt, J., Menousek, K., Hembree, K., Evans, J., Gathje, R., Kupzyk, K., Sevecke, J. R. & Lancaster, B., Jan 1 2019, In : Clinical Practice in Pediatric Psychology.

Research output: Contribution to journalArticle

Desmosterolosis and desmosterol homeostasis in the developing mouse brain

Allen, L. B., Genaro-Mattos, T. C., Porter, N. A., Mirnics, K. & Korade, Z., Sep 1 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 934-943 10 p.

Research output: Contribution to journalArticle

4 Scopus citations

Development of Technology-Based Resource to Promote Students Academic Success

Nelson, A. E. & Kotcherlakota, S., Oct 2019, In : Teaching and Learning in Nursing. 14, 4, p. 231-234 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Differential impact of physical activity type on depression in adults with congenital heart disease: A multi-center international study

on behalf of the APPROACH-IS consortium and International Society for Adult Congenital Heart Disease (ISACHD), Sep 2019, In : Journal of Psychosomatic Research. 124, 109762.

Research output: Contribution to journalArticle

Discovering dad: Paternal roles, responsibilities, and support needs as defined by fathers of children with complex cardiac conditions perioperatively

Robinson, J., Huskey, D., Schalley, S., Wratchford, D., Hammel, J. & Weaver, M. S., Sep 1 2019, In : Cardiology in the Young. 29, 9, p. 1143-1148 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

Documentation of Advance Directives and Code Status in Electronic Medical Records to Honor Goals of Care

Weaver, M. S., Anderson, B., Cole, A. & Lyon, M. E., Jan 1 2019, In : Journal of Palliative Care.

Research output: Contribution to journalArticle

Does self-determined motivation interact with environmental contexts to influence moderate-to-vigorous physical activity during a girls’ youth sport camp?

Guagliano, J. M., Kolt, G. S., Rosenkranz, R. R. & Dzewaltowski, D. A., Dec 2 2019, In : Journal of Sports Sciences. 37, 23, p. 2720-2725 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

Downregulation of an evolutionary young mir-1290 in an ipscderived neural stem cell model of autism spectrum disorder

Moore, D., Meays, B. M., Madduri, L. S. V., Shahjin, F., Chand, S., Niu, M., Albahrani, A., Guda, C., Pendyala, G., Fox, H. S. & Yelamanchili, S. V., 2019, In : Stem Cells International. 2019, 8710180.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Dual delivery nanoscale device for miR-345 and gemcitabine co-delivery to treat pancreatic cancer

Uz, M., Kalaga, M., Pothuraju, R., Ju, J., Junker, W. M., Batra, S. K., Mallapragada, S. & Rachagani, S., Jan 28 2019, In : Journal of Controlled Release. 294, p. 237-246 10 p.

Research output: Contribution to journalArticle

5 Scopus citations

Early mobilization of infants intubated for acute respiratory failure

Ortmann, L. & Dey, A., Dec 2019, In : Critical Care Nurse. 39, 6, p. 47-53 7 p.

Research output: Contribution to journalArticle

Early respiratory viral infections in infants with cystic fibrosis

Deschamp, A. R., Hatch, J. E., Slaven, J. E., Gebregziabher, N., Storch, G., Hall, G. L., Stick, S., Ranganathan, S., Ferkol, T. W. & Davis, S. D., Nov 2019, In : Journal of Cystic Fibrosis. 18, 6, p. 844-850 7 p.

Research output: Contribution to journalArticle

5 Scopus citations

Education as important predictor for successful employment in adults with congenital heart disease worldwide

the APPROACH-IS consortium, the International Society for Adult Congenital Heart Disease (ISACHD), May 1 2019, In : Congenital Heart Disease. 14, 3, p. 362-371 10 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Effects of novel pyrrolomycin MP1 in MYCN amplified chemoresistant neuroblastoma cell lines alone and combined with temsirolimus

McGuire, T. R., Coulter, D. W., Bai, D., Sughroue, J. A., Li, J., Yang, Z., Qiao, Z., Liu, Y., Murry, D. J., Chhonker, Y. S., McIntyre, E. M., Alexander, G., Sharp, J. G. & Li, R., Aug 27 2019, In : BMC cancer. 19, 1, 837.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Emergence of New Delhi metallo-β-lactamase (NDM-5) in Klebsiella quasipneumoniae from neonates in a Nigerian hospital

Brinkac, L. M., White, R., D'Souza, R., Nguyen, K., Obaro, S. K. & Fouts, D. E., Mar 1 2019, In : mSphere. 4, 2, e00685-18.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Emergent high fatality lung disease in systemic juvenile arthritis

Childhood arthritis and Rheumatology Research alliance Registry investigators, 2019, In : Annals of the rheumatic diseases. 78, 12, p. 1722-1731 10 p.

Research output: Contribution to journalArticle

15 Scopus citations

Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study

Bose, M., Mahadevan, M., Schules, D. R., Coleman, R. K., Gawron, K. M., Gamble, M. B., Roullet, J. B., Gibson, K. M. & Rizzo, W. B., Jun 2019, In : Molecular Genetics and Metabolism Reports. 19, 100459.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Enhancing physician wellness through coaching: An occupational psychiatry tool

Schulte, E. E., Sikon, A. L., Love, L., Simonsen, K., Berry, A. & Agarwal, G., Nov 2019, In : Psychiatric Annals. 49, 11, p. 492-496 5 p.

Research output: Contribution to journalArticle

Establishing initial auditory-visual conditional discriminations and emergence of initial tacts in young children with autism spectrum disorder

Fisher, W. W., Retzlaff, B. J., Akers, J. S., DeSouza, A. A., Kaminski, A. J. & Machado, M. A., Oct 1 2019, In : Journal of applied behavior analysis. 52, 4, p. 1089-1106 18 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Estimating the impact of deploying an electronic clinical decision support tool as part of a national practice improvement project

Kerns, E. K., Staggs, V. S., Fouquet, S. D. & McCulloh, R. J., Apr 11 2019, In : Journal of the American Medical Informatics Association. 26, 7, p. 630-636 7 p.

Research output: Contribution to journalArticle

Estimating the probability of abusive head trauma after abuse evaluation

for the Pediatric Brain Injury Research Network (PediBIRN) Investigators, Feb 2019, In : Child Abuse and Neglect. 88, p. 266-274 9 p.

Research output: Contribution to journalArticle

6 Scopus citations

Evaluating promising investigational medical countermeasures: Recommendations in the absence of guidelines

Bhadelia, N., Sauer, L., Cieslak, T. J., Davey, R. T., McLellan, S., Uyeki, T. M. & Kortepeter, M. G., Jan 1 2019, In : Health Security. 17, 1, p. 46-53 8 p.

Research output: Contribution to journalArticle

2 Scopus citations
1 Scopus citations

Evaluation of a method to scale muscle strength for gait simulations of children with cerebral palsy

Hegarty, A. K., Hulbert, T. V., Kurz, M. J., Stuberg, W. & Silverman, A. K., Jan 23 2019, In : Journal of Biomechanics. 83, p. 165-173 9 p.

Research output: Contribution to journalArticle

2 Scopus citations

Evaluation of a remote telemedicine screening system for severe retinopathy of prematurity

Begley, B. A., Martin, J., Tufty, G. T. & Suh, D. W., 2019, In : Journal of pediatric ophthalmology and strabismus. 56, 3, p. 157-161 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 867-876 10 p.

Research output: Contribution to journalArticle

18 Scopus citations
1 Scopus citations

Facilitating the emergence of convergent intraverbals in children with autism

DeSouza, A. A., Fisher, W. W. & Rodriguez, N. M., Dec 1 2019, In : Journal of applied behavior analysis. 52, 1, p. 28-49 22 p.

Research output: Contribution to journalArticle

6 Scopus citations

Factors Associated with Adverse Outcomes among Febrile Young Infants with Invasive Bacterial Infections

Febrile Young Infant Research Collaborative, Jan 2019, In : Journal of Pediatrics. 204, p. 177-182.e1

Research output: Contribution to journalArticle

1 Scopus citations

Fast manual long-axis strain assessment provides optimized cardiovascular event prediction following myocardial infarction

Schuster, A., Backhaus, S. J., Stiermaier, T., Kowallick, J. T., Stulle, A., Koschalka, A., Lotz, J., Kutty, S., Bigalke, B., Gutberlet, M., Hasenfuß, G., Thiele, H. & Eitel, I., Nov 1 2019, In : European heart journal cardiovascular Imaging. 20, 11, p. 1262-1270 9 p.

Research output: Contribution to journalArticle

4 Scopus citations

FDPS cooperates with PTEN loss to promote prostate cancer progression through modulation of small GTPases/AKT axis

Seshacharyulu, P., Rachagani, S., Muniyan, S., Siddiqui, J. A., Cruz, E., Sharma, S., Krishnan, R., Killips, B. J., Sheinin, Y., Lele, S. M., Smith, L. M., Talmon, G. A., Ponnusamy, M. P., Datta, K. & Batra, S. K., Jun 27 2019, In : Oncogene. 38, 26, p. 5265-5280 16 p.

Research output: Contribution to journalArticle

4 Scopus citations

Genetic drivers of oncogenic pathways in molecular subgroups of peripheral T-cell lymphoma

Heavican, T. B., Bouska, A., Yu, J., Lone, W., Amador, C., Gong, Q., Zhang, W., Li, Y., Dave, B. J., Nairismägi, M. L., Greiner, T. C., Vose, J., Weisenburger, D. D., Lachel, C., Wang, C., Fu, K., Stevens, J. M., Lim, S. T., Ong, C. K., Gascoyne, R. D. & 27 others, Missiaglia, E., Lemonnier, F., Haioun, C., Hartmann, S., Pedersen, M. B., Laginestra, M. A., Wilcox, R. A., Teh, B. T., Yoshida, N., Ohshima, K., Seto, M., Rosenwald, A., Ott, G., Campo, E., Rimsza, L. M., Jaffe, E. S., Braziel, R. M., d’Amore, F., Inghirami, G., Bertoni, F., de Leval, L., Gaulard, P., Staudt, L. M., McKeithan, T. W., Pileri, S., Chan, W. C. & Iqbal, J., Apr 11 2019, In : Blood. 133, 15, p. 1664-1676 13 p.

Research output: Contribution to journalArticle

26 Scopus citations

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

Gialluisi, A., Andlauer, T. F. M., Mirza-Schreiber, N., Moll, K., Becker, J., Hoffmann, P., Ludwig, K. U., Czamara, D., St Pourcain, B., Brandler, W., Honbolygó, F., Tóth, D., Csépe, V., Huguet, G., Morris, A. P., Hulslander, J., Willcutt, E. G., DeFries, J. C., Olson, R. K., Smith, S. D. & 25 others, Pennington, B. F., Vaessen, A., Maurer, U., Lyytinen, H., Peyrard-Janvid, M., Leppänen, P. H. T., Brandeis, D., Bonte, M., Stein, J. F., Talcott, J. B., Fauchereau, F., Wilcke, A., Francks, C., Bourgeron, T., Monaco, A. P., Ramus, F., Landerl, K., Kere, J., Scerri, T. S., Paracchini, S., Fisher, S. E., Schumacher, J., Nöthen, M. M., Müller-Myhsok, B. & Schulte-Körne, G., Dec 1 2019, In : Translational Psychiatry. 9, 1, 77.

Research output: Contribution to journalArticle

Open Access
8 Scopus citations

Genotype and phenotype variability in Sjögren-Larsson syndrome

Weustenfeld, M., Eidelpes, R., Schmuth, M., Rizzo, W. B., Zschocke, J. & Keller, M. A., Feb 1 2019, In : Human mutation. 40, 2, p. 177-186 10 p.

Research output: Contribution to journalArticle

7 Scopus citations

Geographical variation and predictors of physical activity level in adults with congenital heart disease

APPROACH-IS Consortium & the International Society for Adult Congenital Heart Disease (ISACHD), Mar 2019, In : IJC Heart and Vasculature. 22, p. 20-25 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening

Wolf, A., Rohr, J. M., Amador, C., Starr, L. J., Hoyer, J. D. & Ford, J. B., May 4 2019, In : Hemoglobin. 43, 3, p. 207-209 3 p.

Research output: Contribution to journalArticle

1 Scopus citations

Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome

Pediatric Heart Network Investigators & New England Research Institutes, Jan 2019, In : Journal of Pediatrics. 204, p. 250-255.e1

Research output: Contribution to journalArticle

7 Scopus citations

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

Bosticardo, M., Yamazaki, Y., Cowan, J., Giardino, G., Corsino, C., Scalia, G., Prencipe, R., Ruffner, M., Hill, D. A., Sakovich, I., Yemialyanava, I., Tam, J. S., Padem, N., Elder, M. E., Sleasman, J. W., Perez, E., Niebur, H., Seroogy, C. M., Sharapova, S., Gebbia, J. & 17 others, Kleiner, G. I., Peake, J., Abbott, J. K., Gelfand, E. W., Crestani, E., Biggs, C., Butte, M. J., Hartog, N., Hayward, A., Chen, K., Heimall, J., Seeborg, F., Bartnikas, L. M., Cooper, M. A., Pignata, C., Bhandoola, A. & Notarangelo, L. D., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 549-561 13 p.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

How I approach expressing condolences and longitudinal remembering to a family after the death of a child

Weaver, M. S., Lichtenthal, W. G., Larson, K. & Wiener, L., Feb 1 2019, In : Pediatric Blood and Cancer. 66, 2, e27489.

Research output: Contribution to journalArticle

2 Scopus citations

Human umbilical cord blood monocytes, but not adult blood monocytes, rescue brain cells from hypoxic-ischemic injury: Mechanistic and therapeutic implications

Saha, A., Patel, S., Xu, L., Scotland, P., Schwartzman, J., Filiano, A. J., Kurtzberg, J. & Balber, A. E., 2019, In : PloS one. 14, 9, e0218906.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations
Open Access
1 Scopus citations