KristenSuhrieMD

PubMed

• A Practical Guide to Whole Genome Sequencing in the NICU.
  Katelyn Seither, Whitney Thompson, Kristen Suhrie> ;Neoreviews. 2024 Mar 1
• Pharmacogenetic informed care in early childhood: options for improving access and health equity.
  Kristen Suhrie, Emma M Tillman> ;Pharmacogenomics. 2023 Jul 1
• 8 citations
  Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
  Jill L Maron, Stephen Kingsmore, Bruce D Gelb, Jerry Vockley, Kristen Wigby, Jennifer Bragg, Annemarie Stroustrup, Brenda Poindexter, Kristen Suhrie, Jae H Kim, Thomas...> ;JAMA. 2023 Jul 11
• 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
• 1 citations
  The Potential Impact of Preemptive Pharmacogenetic Genotyping in the Neonatal Intensive Care Unit.
  Katherine A Gallaway, Kayla Cann, Katherine Oetting, Mary Rothenberger, Andra Raibulet, James E Slaven, Kristen Suhrie, Emma M Tillman> ;The Journal of Pediatrics. 2023 Aug 1
• 4 citations
  Sleep Apnea in Children With Down Syndrome.
  Katelyn Seither, Benjamin M Helm, Christine Heubi, Daniel Swarr, Kristen R Suhrie> ;Pediatrics. 2023 Mar 1
• 1 citations
  Esophageal Atresia With or Without Tracheoesophageal Fistula: Comorbidities, Genetic Evaluations, and Neonatal Outcomes.
  Divya Khattar, Kristen R Suhrie> ;Cureus. 2023 Feb 1
• Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
  Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones, Austin Larson, Frances Velez Bartolomei, Natalie Dykzeul, Anne Slavotinek, Tiffany Yip, Sara...> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 1 citations
  Characterization of a novel deep-intronic variant inidentified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
  Muqsit Buchh, Patrick J Gillespie, Kayla Treat, Marco A Abreu, Tae-Hwi Linus Schwantes-An, Benjamin M Helm, Fang Fang, Xiaoling Xuei, Lili Mantcheva, Kristen R Suhrie,...> ;Cold Spring Harbor Molecular Case Studies. 2022 Dec 1
• Hypothermia and Metabolic Acidosis in a Term Infant.
  Maradith Skalak, Kristen Suhrie> ;Neoreviews. 2022 Nov 1
• 5 citations
  Detection and impact of genetic disease in a level IV neonatal intensive care unit.
  Leanne Hagen, Divya Khattar, Katie Whitehead, Hua He, Daniel T Swarr, Kristen Suhrie> ;Journal of Perinatology. 2022 May 1
• 2 citations
  Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage,...
  Amelle Shillington, Alonso Zea Vera, Tanya Perry, Robert J. Hopkin, Cameron Thomas, David S. Cooper, Kristen Suhrie> ;Molecular Genetics & Genomic Medicine. 2021 Sep 16
• 34 citations
  Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infan...
  Jill L. Maron, Stephen F. Kingsmore, Kristen Wigby, Shimul Chowdhury, David Dimmock, Brenda B. Poindexter, Kristen Suhrie, Jerry Vockley, Thomas G. Diacovo, Bruce D. G...> ;JAMA Pediatrics. 2021 Feb 15
• 4 citations
  Neonatal complications of Down syndrome and factors necessitating intensive care.
  Katelyn Seither, Sammy Tabbah, Dawit G. Tadesse, Kristen R. Suhrie> ;American Journal of Medical Genetics. Part A. 2021 Feb 1
• 5 citations
  Early behavioral and developmental interventions in ADNP‐syndrome: A case report of SWI/SNF‐related neurodevelopmental syndrome
  Amelle Shillington, Ernest V. Pedapati, Robert J. Hopkin, Kristen Suhrie> ;Molecular Genetics & Genomic Medicine. 2020 Apr 10
• 21 citations
  Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost?
  Kayleigh A. Swaggart, Daniel T. Swarr, Leandra K. Tolusso, Hua He, D. Brian Dawson, Kristen Suhrie> ;The Journal of Pediatrics. 2019 Jun 27
• 35 citations
  Neonatal Lung Disease Associated with TBX4 Mutations
  Kristen Suhrie, Nathan M. Pajor, Shawn K. Ahlfeld, D. Brian Dawson, Kevin R. Dufendach, Joseph A. Kitzmiller, Daniel Leino, Rachel C. Lombardo, Teresa A. Smolarek, Pam...> ;The Journal of Pediatrics. 2019 Mar 1
• 38 citations
  Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction.
  Eric S. Goetzman, John F. Alcorn, Sivakama S. Bharathi, Radha Uppala, Kevin J. McHugh, Beata Kosmider, Rimei Chen, Yi Y. Zuo, Megan E. Beck, Richard W. McKinney, Helen...> ;The Journal of Biological Chemistry. 2014 Apr 11
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Journal Articles

• Novel Variant Findings and Challenges Associated with the Clinical Integration of Genomic Testing  
  Jill L Maron, Kristen Suhrie, Thomas Diacovo, Annemarie Stroustrup, JAMA Pediatrics