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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 11, 2021
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing ProgramEric T Rush, Britt Johnson, Swaroop Aradhya, et al.
American Journal of Human Genetics|January 30, 2025
Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratoriesKathryn E Hatchell, Sarah R Poll, Emily M Russell, et al.
Frontiers in Medicine|April 8, 2021
Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic MarkersDragan Primorac, Ljubica Odak, Vitorio Perić, et al.
Leukemia Research|September 29, 2009
Immunophenotypic features of acute myeloid leukemia with inv(3)(q21q26.2)/t(3;3)(q21;q26.2)Bruno C Medeiros, Holbrook E Kohrt, Daniel A Arber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohortKyle Retterer, Julie Scuffins, Daniel Schmidt, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
A report of three patients with an interstitial deletion of chromosome 15q24Lisa J Cushman, Wilfredo Torres-Martinez, Athena M Cherry, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 7, 2009
Feeder-free derivation of induced pluripotent stem cells from adult human adipose stem cellsNing Sun, Nicholas J Panetta, Deepak M Gupta, et al.
European Journal of Human Genetics : EJHG|November 17, 2011
Severe intellectual disability and autistic features associated with microduplication 2q23.1Brian H Y Chung, Sureni Mullegama, Christian R Marshall, et al.
Blood|June 4, 2008
Long-term remission of Philadelphia chromosome-positive acute lymphoblastic leukemia after allogeneic hematopoietic cell transplantation from matched sibling donors: a 20-year experience with the fractionated total body irradiation-etoposide regimenGinna G Laport, Joseph C Alvarnas, Joycelynne M Palmer, et al.
Epilepsia|April 27, 2022
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten diseaseFernanda Leal-Pardinas, Rebecca Truty, Dianalee A McKnight, et al.
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