Publications by authors named "Donald G Basel"

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Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate.
Guenter Schwarz, Donald G Basel, Bernd C Schwahn, Ronen Spiegel, Flora Y Wong

J Inherit Metab Dis· March 2025

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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi, Donald G Basel

Am J Hum Genet· March 2024

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Cyanosis in a Previously Well Child.
Moodakare A Bhat, Matthew R Plunk, Donald G Basel, Sheila J Hanson

Pediatr Rev· November 2021

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Adaptive Behavior and Executive Functioning in Children with Neurofibromatosis Type 1 Using a Mixed Design.
Danielle M Glad, Christina L Casnar, Brianna D Yund, Marie J Enderle, Dawn H Siegel, Donald G Basel

J Dev Behav Pediatr· October 2021

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Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Young-In Chi, Timothy J Stodola, Thiago M De Assuncao, Elise N Leverence, Swarnendu Tripathi, Donald G Basel

Orphanet J Rare Dis· June 2021

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Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Young-In Chi, Timothy J Stodola, Thiago M De Assuncao, Elise N Leverence, Swarnendu Tripathi, Donald G Basel

Orphanet J Rare Dis· February 2021

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Liver failure and x-linked immunodeficiency type 47.
Alexis J Gumm, Donald G Basel, Pooja Thakrar, Mariko Suchi, Grzegorz Telega

Pediatr Transplant· December 2020

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, Donald G Basel

Hum Mutat· January 2020

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Donald G Basel

Genet Med· April 2019

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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Donald G Basel

Genet Med· March 2019

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Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.
Dawn H Siegel, Catherine E Cottrell, Jenna L Streicher, Kala F Schilter, Donald G Basel, Eulalia Baselga

J Invest Dermatol· April 2018

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A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).
Jess F Peterson, Donald G Basel, David P Bick, Brett Chirempes, Rachel B Lorier

J Pediatr Genet· March 2018

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Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier.
Jess F Peterson, Gabrielle C Geddes, Donald G Basel, Dana Schippman, John W Grignon

J Pediatr Genet· March 2018

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Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Mariana Moysés-Oliveira, Giuliana Giannuzzi, Richard J Fish, Jill A Rosenfeld, Florence Petit, Donald G Basel

Hum Mutat· February 2018

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Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.
Randeep Brar, Donald G Basel, David P Bick, LuAnn Weik, Peter vanTuinen

J Assoc Genet Technol· January 2017

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Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1.
Molly M Brickler, Donald G Basel, Gabriela Gheorghe, David M Margolis, Michael E Kelly

Pediatr Blood Cancer· September 2014

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