MonicaHsiungWojcikMD

PubMed

• 1 citations
  Advancing Understanding of Inequities in Rare Disease Genomics.
  Jillian G Serrano, Melanie O'Leary, Grace E VanNoy, Brian E Mangilog, Ingrid A Holm, Yarden S Fraiman, Heidi L Rehm, Anne O'Donnell-Luria, Monica H Wojcik> ;Clinical Therapeutics. 2023 Aug 1
• 2 citations
  Provision and availability of genomic medicine services in Level IV neonatal intensive care units.
  Monica H Wojcik, Katharine P Callahan, Austin Antoniou, Maya C Del Rosario, Luca Brunelli, Nahed O ElHassan, Semsa Gogcu, Karna Murthy, Jennifer A Rumpel, Jennifer A W...> ;Genetics in Medicine. 2023 Oct 1
• Perinatal-lethal nonimmune fetal hydrops attributed to-associated bone marrow failure.
  Camille A Dash, Jill A Madden, Christy Cummings, Melissa Rose, Sheria D Wilson, Mari Mori, Pankaj B Agrawal, Bimal P Chaudhari, Monica H Wojcik> ;Cold Spring Harbor Molecular Case Studies. 2023 Jun 1
• 9 citations
  Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes.
  Monica H Wojcik, Mairead Bresnahan, Maya C Del Rosario, Mayra Martinez Ojeda, Amy Kritzer, Yarden S Fraiman> ;Pediatric Research. 2023 Jan 1
• ECI Biocommentary: Monica Hsiung Wojcik.
  Monica Hsiung Wojcik> ;Pediatric Research. 2023 Jan 1
• 8 citations
  Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
  Alissa M D'Gama, Maya C Del Rosario, Mairead A Bresnahan, Timothy W Yu, Monica H Wojcik, Pankaj B Agrawal> ;NPJ Genomic Medicine. 2022 Sep 5
• 6 citations
  A model to implement genomic medicine in the neonatal intensive care unit.
  Monica H Wojcik, Alissa M D'Gama, Pankaj B Agrawal> ;Journal of Perinatology. 2023 Feb 1
• 5 citations
  Perspectives of United States neonatologists on genetic testing practices.
  Monica H Wojcik, Maya C Del Rosario, Pankaj B Agrawal> ;Genetics in Medicine. 2022 Jun 1
• 2 citations
  Mortality in the neonatal intensive care unit: improving the accuracy of death reporting.
  Monica H. Wojcik, Jenny Chan Yuen, Anne Hansen, Kristen T. Leeman> ;Journal of Perinatology. 2021 Sep 28
• 5 citations
  Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.
  Rachel Stadelmaier, Margaret A. Kenna, Devon Barrett, Thomas E. Mullen, Olaf Bodamer, Pankaj B. Agrawal, Caroline D. Robson, Monica H. Wojcik> ;American Journal of Medical Genetics. Part A. 2021 Aug 9
• 4 citations
  The Unrecognized Mortality Burden of Genetic Disorders in Infancy.
  Monica H. Wojcik, Rachel Stadelmaier, Dominique Heinke, Ingrid A. Holm, Wen-Hann Tan, Pankaj B. Agrawal, Agrawal, P. B.> ;American Journal of Public Health. 2021 Jul 27
• 7 citations
  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)
  Krishna Acharya, Steven R. Leuthner, Isabella Zaniletti, Jason Z Niehaus, Christine E Bishop, Carl H. Coghill, Ankur Datta, Narendra Dereddy, Robert DiGeronimo, Laura ...> ;Journal of Perinatology. 2021 Jun 10
• Commentary on a Neonate with Hypocalcemia and Cardiac Anomaly.
  Monica H. Wojcik> ;Clinical Chemistry. 2021 Jun 1
• 20 citations
  Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
  Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr, Heinrich Sticht, Mariarosaria Lang-Muritano, Conny M. A. van Ravenswaaij-Arts, Marwan ...> ;Genetics in Medicine. 2021 May 3
• 40 citations
  Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
  Monica H. Wojcik, Tian Zhang, Ozge Ceyhan-Birsoy, Casie A. Genetti, Matthew S. Lebo, Timothy W. Yu, Richard B. Parad, Ingrid A. Holm, Heidi L. Rehm, Alan H. Beggs, Rob...> ;Genetics in Medicine. 2021 Mar 26
• 22 citations
  POLRMT mutations impair mitochondrial transcription causing neurological disease.
  Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J Collier, Emily Hoberg, Viktor Strán...> ;Nature Communications. 2021 Feb 18
• 5 citations
  Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathe...
  Alissa M. D'Gama, Eleina M. England, Jill A. Madden, Jiahai Shi, Katherine R. Chao, Monica H. Wojcik, Alcy Torres, Wen-Hann Tan, Gerard T. Berry, Sanjay P. Prabhu, Pan...> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 13 citations
  Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
  Anna R. Duncan, Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance H. Rodan, Jiahai Shi, Ann Seman, Emanuele Agolini, Antonio ...> ;American Journal of Human Genetics. 2020 Dec 3
• 51 citations
  Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
  Laura M Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael E. March, Divya Nair, Elliott H. Sherr...> ;Science Advances. 2020 Dec 2
• 108 citations
  Monogenic variants in dystonia: an exome-wide sequencing study.
  Michael Zech, Robert Jech, Sylvia Boesch, Matej Skorvanek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Felix D...> ;The Lancet. Neurology. 2020 Nov 1
• 3 citations
  Deciphering congenital anomalies for the next generation
  Monica H. Wojcik, Pankaj B. Agrawal> ;Cold Spring Harbor Molecular Case Studies. 2020 Oct 7
• 43 citations
  The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
  Yarden S. Fraiman, Monica H. Wojcik> ;Pediatric Research. 2021 Jan 1
• 2 citations
  Genomic Insights into Stillbirth.
  Monica H. Wojcik> ;The New England Journal of Medicine. 2020 Aug 12
• 3 citations
  Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease.
  Grace E. VanNoy, Monica H. Wojcik, Casie A. Genetti, Thomas E. Mullen, Pankaj B. Agrawal, Deborah R. Stein> ;Kidney International Reports. 2020 May 23
• 4 citations
  Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content
  Rosa Woldegebriel, Jouni Kvist, Noora Andersson, Katrin Õunap, Karit Reinson, Monica H. Wojcik, Emilia K. Bijlsma, Mariëtte J.V. Hoffer, Monique M. Ryan, Zornitza Star...> ;Human Molecular Genetics. 2020 May 1
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Journal Articles

• De Novo Variant in KIF26B Is Associated with Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy  
  Pankaj B Agrawal, Vinodh Narayanan, Monica H Wojcik, Sanjay P Prabhu, American Journal of Medical Genetics Part A
• Expanding the Phenotypic Spectrum Associated with OPHN1 Variants  
  Jonathan D Picker, Ingrid A Holm, Monica H Wojcik, Pankaj B Agrawal, ScienceDirect