Holoprosencephaly: A clinical genomics perspective

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Benjamin D SolomonJane Juusola

Abstract

New and rapidly evolving technologies have dramatically impacted the practice of clinical genetics as well as broader areas of medicine. To illustrate this trend from the perspective of a clinical molecular laboratory, we briefly summarize our general experience conducting exome testing for patients with holoprosencephaly (HPE). Though these cases are not representative of HPE more generally (i.e., cases undergoing exome sequencing represent a skewed sample), results include a 22% positive rate from exome testing. Of interest, 29% of reported results involved genes not considered to be classic HPE genes, indicating more evidence that HPE may fall within the severe spectrum of many other genetic conditions.

References

Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Erich Roessler, Maximilian Muenke
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Daniel E Pineda-AlvarezMaximilian Muenke
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·David D WeaverMaximilian Muenke
Jul 22, 2010·European Journal of Human Genetics : EJHG·Christèle DubourgErich Roessler
Oct 7, 2011·American Journal of Medical Genetics. Part a·Daniel E Pineda-AlvarezMaximilian Muenke
Oct 31, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kyle RettererEden Haverfield
Feb 5, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glen R MonroeGijs van Haaften
Jul 29, 2016·Molecular Genetics & Genomic Medicine·Benjamin D SolomonTyra G Wolfsberg
Jun 24, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Karin WeissMaximilian Muenke

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Citations

Dec 18, 2019·American Journal of Medical Genetics. Part a·Tara DalyOlaf Bodamer
Jan 20, 2020·Prenatal Diagnosis·Sara H El-DessoukyGhada M H Abdel-Salam

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