Publications by authors named "Daniel Groepper"

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An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes.
Lauren Boucher, Berkley Nestler, Daniel Groepper, John Quillin, David Deyle

Genet Med Open· January 2025

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An examination of psychosocial and professional effects of the COVID-19 pandemic on genetic counselors.
Nicole Gostic, Daniel Groepper, Megan Trinkle-Tucker, Malynnda Johnson, Kristin B Niendorf

J Genet Couns· April 2024

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Newborn screening for mucopolysaccharidosis type II: Lessons learned.
Barbara K Burton, Vera Shively, Allegra Quadri, Lauren Warn, Jennifer Burton, Daniel Groepper

Mol Genet Metab· November 2023

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Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Sarah R Poll, Renan Martin, Elizabeth Wohler, Elizabeth S Partan, Elizabeth Walek, Daniel Groepper

PLoS Genet· December 2022

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Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.
Deanna Fry, Daniel Groepper, Gretchen MacCarrick, Erin M Demo, Matthew J Thomas

Am J Med Genet A· July 2022

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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Michelle E Ernst, Evan H Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Daniel Groepper

Epilepsia· July 2021

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Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Ilaria Mannucci, Nghi D P Dang, Hannes Huber, Jaclyn B Murry, Jeff Abramson, Daniel Groepper

Genome Med· May 2021

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Daniel Groepper

Hum Mutat· April 2021

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De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Daniel Groepper

Am J Med Genet A· May 2020

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Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Barbara K Burton, Joel Charrow, George E Hoganson, Julie Fleischer, Dorothy K Grange, Daniel Groepper

Int J Neonatal Screen· March 2020

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Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
Barbara K Burton, George E Hoganson, Julie Fleischer, Dorothy K Grange, Stephen R Braddock, Daniel Groepper

J Pediatr· November 2019

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Ethical and Professional Challenges Encountered by Laboratory Genetic Counselors.
Daniel Groepper, Patricia McCarthy Veach, Bonnie S LeRoy, Matthew Bower

J Genet Couns· August 2015

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Pharmacokinetic modeling of an induction regimen for in vivo combined testing of novel drugs against pediatric acute lymphoblastic leukemia xenografts.
Barbara Szymanska, Urszula Wilczynska-Kalak, Min H Kang, Natalia L M Liem, Hernan Carol, Daniel Groepper

PLoS One· November 2012

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Stability of cyclophosphamide in extemporaneous oral suspensions.
Rachel Kennedy, Daniel Groepper, Michael Tagen, Robbin Christensen, Fariba Navid

Ann Pharmacother· February 2010

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