Wojcik Monica H - Divisions of Newborn Medicine and Genetics and Genomics, Boston Children’s Hospital

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Papers共 105 篇Author StatisticsCo-AuthorSimilar Experts

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P800: Non-mosaic trisomy 9: Prenatal and fetal autopsy findings with further delineation of the clinical phenotype

Abdallah Elias, Michael Gordon, Bradley Holbrook, Olivia Maher, Tabitha Poorvu, Tammy Schwalbe, Maija Trout,Monica Wojcik, Amy Zearfoss

Genetics in Medicine Open (2024): 101708

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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen,Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton,Susan Walker,Alicia Ljungdahl,Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire,Elston N D'Souza,

medRxiv : the preprint server for health sciences (2024)

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"It's hard to wait": Provider Perspectives on Current Genomic Care in Safety-Net NICUs

Alissa M D'Gama,Monica H Wojcik, Sonia Hills,Jessica Douglas, VIGOR Network,Timothy W Yu,Pankaj B Agrawal, Margaret G Parker

Genetics in medicine : official journal of the American College of Medical Geneticspp.101177-101177, (2024)

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Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit

Erica E. D’Souza,Tina O. Findley, Rachel Hu, Zahra S. H. Khazal, Rachel Signorello, Camille Dash,Alissa M. D’Gama,Henry A. Feldman,Pankaj B. Agrawal,Monica H. Wojcik,Sarah U. Morton

Journal of Perinatologypp.1-7, (2024)

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Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants

Monica H Wojcik, Maya C del Rosario, Henry Feldman, Hadley Smith, Ingrid A Holm

medrxiv（2024）

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Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

Alissa M. D'Gama, Sonia Hills, Jessica Douglas, Vanessa Young,Casie A. Genetti,Monica H. Wojcik, Henry A. Feldman,Timothy W. Yu,Margaret Parker,Pankaj B. Agrawal

BMJ OPENno. 2 (2024): e080529-e080529

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Genome Sequencing for Diagnosing Rare Diseases

Monica H Wojcik,Gabrielle Lemire, Eva Berger,Maha S Zaki, Mariel Wissmann,Wathone Win,Susan M White,Ben Weisburd,Dagmar Wieczorek,Leigh B Waddell,Jeffrey M Verboon,Grace E VanNoy,

The New England journal of medicineno. 21 (2024): 1985-1997

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P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*

Philip Boone,Kamli Faour,Kiana Mohajeri,John Lemanski, Bimal Jana,Jack Fu,Jennifer Kerkhof,Haley McConkey,Ryan Collins,Diane Lucente,Celine de Esch,Mariana Moysés-Oliveira,

Genetics in Medicine Openno. 1 (2023): 100188-100188

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Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

Eden Engal, Kaisa Teele Oja, Reza Maroofian,Ophir Geminder,Thuy-Linh Le,Pauline Marzin,Anne Guimier, Evyatar Mor, Naama Zvi,Naama Elefant,Maha S Zaki,Joseph G Gleeson,

American journal of human geneticsno. 12 (2023): 2112-2119

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Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Gabrielle Lemire,Alba Sanchis-Juan,Kathryn Russell,Samantha Baxter,Katherine R. Chao,Moriel Singer-Berk,Emily Groopman,Isaac Wong,Eleina England,Julia Goodrich,Lynn Pais,Christina Austin-Tse,

medrxiv（2023）

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