The Influence of Social Determinants of Health on the Genetic Diagnostic Odyssey: Who Remains Undiagnosed, Why, and to What Effect?

por Fraiman, Yarden S., Wojcik, Monica H.
Publicado 2020

Implications of Genomic Newborn Screening for Infant Mortality

por Wojcik, Monica H., Gold, Nina B.
Publicado 2023

Deciphering congenital anomalies for the next generation

por Wojcik, Monica H., Agrawal, Pankaj B.
Publicado 2020

A 19-year-old at 37 weeks gestation with an acute acetylsalicylic acid overdose

por Farid, Huma, Wojcik, Monica H., Christopher, Kenneth B.
Publicado 2011

The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths

por Wojcik, Monica H., Poduri, Annapurna H., Holm, Ingrid A., MacRae, Calum A., Goldstein, Richard D.
Publicado 2023

Rare Diseases, Common Barriers: Disparities in Pediatric Clinical Genetics Outcomes

por Wojcik, Monica H, Bresnahan, Mairead, del Rosario, Maya C, Ojeda, Mayra Martinez, Kritzer, Amy, Fraiman, Yarden S.
Publicado 2023

Genetic Disorders and Mortality in Infancy and Early Childhood: Delayed Diagnoses and Missed Opportunities

por Wojcik, Monica H., Schwartz, Talia S., Yamin, Inbar, Edward, Heather L., Genetti, Casie A., Towne, Meghan C., Agrawal, Pankaj B.
Publicado 2018

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease

por VanNoy, Grace E., Wojcik, Monica H., Genetti, Casie A., Mullen, Thomas E., Agrawal, Pankaj B., Stein, Deborah R.
Publicado 2020

Integrating rapid exome sequencing into NICU clinical care after a pilot research study

por D’Gama, Alissa M., Del Rosario, Maya C., Bresnahan, Mairead A., Yu, Timothy W., Wojcik, Monica H., Agrawal, Pankaj B.
Publicado 2022

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

por Lilleväli, Hardo, Pajusalu, Sander, Wojcik, Monica H., Goodrich, Julia, Collins, Ryan L., Murumets, Ülle, Tammur, Pille, Blau, Nenad, Lilleväli, Kersti, Õunap, Katrin
Publicado 2020

Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure

por Dash, Camille A., Madden, Jill A., Cummings, Christy, Rose, Melissa, Wilson, Sheria D., Mori, Mari, Agrawal, Pankaj B., Chaudhari, Bimal P., Wojcik, Monica H.
Publicado 2023

A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability

por Pravata, Veronica M., Gundogdu, Mehmet, Bartual, Sergio G., Ferenbach, Andrew T., Stavridis, Marios, Õunap, Katrin, Pajusalu, Sander, Žordania, Riina, Wojcik, Monica H., van Aalten, Daan M. F.
Publicado 2019

AXIN2‐related oligodontia‐colorectal cancer syndrome with cleft palate as a possible new feature

por Roht, Laura, Hyldebrandt, Hanne K., Stormorken, Astrid T., Nordgarden, Hilde, Sijmons, Rolf H., Bos, Dennis K., Riegert‐Johnson, Douglas, Mantia‐Macklin, Sarah, Ilves, Pilvi, Muru, Kai, Wojcik, Monica H., Kahre, Tiina, Õunap, Katrin
Publicado 2023

Infant Mortality: the Contribution of Genetic Disorders

por Wojcik, Monica H., Schwartz, Talia S., Thiele, Katri E., Paterson, Heather, Stadelmaier, Rachel, Mullen, Thomas E., VanNoy, Grace E., Genetti, Casie A., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Tan, Wen-Hann, Agrawal, Pankaj B.
Publicado 2019

Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age

por 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.
Publicado 2022

Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy

por Oja, Kaisa Teele, Ilisson, Mihkel, Reinson, Karit, Muru, Kai, Reimand, Tiia, Peterson, Hedi, Fishman, Dmytro, Esko, Tõnu, Haller, Toomas, Kronberg, Jaanika, Wojcik, Monica H., Kennedy, Adam, Michelotti, Gregory, O’Donnell-Luria, Anne, Õiglane-Šlik, Eve, Pajusalu, Sander, Õunap, Katrin
Publicado 2023

Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children’s hospitals neonatal intensive care units (NICUs)

por Acharya, Krishna, Leuthner, Steven R., Zaniletti, Isabella, Niehaus, Jason Z., Bishop, Christine E., Coghill, Carl H., Datta, Ankur, Dereddy, Narendra, DiGeronimo, Robert, Jackson, Laura, Ling, Con Yee, Matoba, Nana, Natarajan, Girija, Nayak, Sujir Pritha, Schlegel, Amy Brown, Seale, Jamie, Shah, Anita, Weiner, Julie, Williams, Helen O., Wojcik, Monica H., Fry, Jessica T., Sullivan, Kevin
Publicado 2021

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

por Engal, Eden, Oja, Kaisa Teele, Maroofian, Reza, Geminder, Ophir, Le, Thuy-Linh, Mor, Evyatar, Tzvi, Naama, Elefant, Naama, Zaki, Maha S., Gleeson, Joseph G., Muru, Kai, Pajusalu, Sander, Wojcik, Monica H., Pachat, Divya, Elmaksoud, Marwa Abd, Jeong, Won Chan, Lee, Hane, Bauer, Peter, Zifarelli, Giovanni, Houlden, Henry, Elpeleg, Orly, Gordon, Chris, Harel, Tamar, Õunap, Katrin, Salton, Maayan, Mor-Shaked, Hagar
Publicado 2023

Beyond the exome: what’s next in diagnostic testing for Mendelian conditions

por Wojcik, Monica H., Reuter, Chloe M., Marwaha, Shruti, Mahmoud, Medhat, Duyzend, Michael H., Barseghyan, Hayk, Yuan, Bo, Boone, Philip M., Groopman, Emily E., Délot, Emmanuèle C., Jain, Deepti, Sanchis-Juan, Alba, Starita, Lea M., Talkowski, Michael, Montgomery, Stephen B., Bamshad, Michael J., Chong, Jessica X., Wheeler, Matthew T., Berger, Seth I., O’Donnell-Luria, Anne, Sedlazeck, Fritz J., Miller, Danny E.
Publicado 2023

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

por Fletcher, Sally C., Hall, Charlotte, Kennedy, Tristan J., Pajusalu, Sander, Wojcik, Monica H., Boora, Uncaar, Li, Chan, Oja, Kaisa Teele, Hendrix, Eline, Westrip, Christian A.E., Andrijes, Regina, Piasecka, Sonia K., Singh, Mansi, El-Asrag, Mohammed E., Ptasinska, Anetta, Tillmann, Vallo, Higgs, Martin R., Carere, Deanna A., Beggs, Andrew D., Pappas, John, Rabin, Rachel, Smerdon, Stephen J., Stewart, Grant S., Õunap, Katrin, Coleman, Mathew L.
Publicado 2023