Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels.

Autor: Cook S; Masters Program in Human Genetics and Genetic Counseling, Stanford University, Stanford, CA., Dunn E; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA. Electronic address: erdunn@stanford.edu., Kornish J; Lucile Packard Children's Hospital, Stanford, CA., Calderwood L; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA; Lucile Packard Children's Hospital, Stanford, CA., Campion M; Masters Program in Human Genetics and Genetic Counseling, Stanford University, Stanford, CA., Cusmano-Ozog KP; Department of Pathology, Stanford University, Stanford, CA., Tise CG; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Apr; Vol. 26 (4), pp. 101055. Date of Electronic Publication: 2023 Dec 23.

MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.

Autor: Tise CG; Division of Medical Genetics, Stanford University, Stanford, California, USA., Verscaj CP; Division of Medical Genetics, Stanford University, Stanford, California, USA., Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente Northern California, Oakland, California, USA., Woods J; Division of Medical Genetics, Stanford University, Stanford, California, USA.; Department of Medical Genetics and Metabolism, Valley Children's Healthcare, Madera, California, USA., Lee CU; Division of Medical Genetics, Stanford University, Stanford, California, USA., Enns GM; Division of Medical Genetics, Stanford University, Stanford, California, USA., Stander Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Hall PL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Cowan TM; Department of Pathology, Stanford University, Stanford, California, USA., Cusmano-Ozog KP; Department of Pathology, Stanford University, Stanford, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jun; Vol. 191 (6), pp. 1492-1501. Date of Electronic Publication: 2023 Mar 08.

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.

Autor: Tise CG; Stanford University, CA, USA., Palma MJ; Stanford University, CA, USA., Cusmano-Ozog KP; Stanford University, CA, USA., Matalon DR; Stanford University, CA, USA.

Publikováno v: Journal of investigative medicine high impact case reports [J Investig Med High Impact Case Rep] 2023 Jan-Dec; Vol. 11, pp. 23247096231154438.

Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.

Autor: Tise CG; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA., Morales JA; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA., Lee AS; Division of Medical Genetics, Department of Pediatrics, Rady Children's Hospital and University of California, San Diego, California, USA., Velez-Bartolomei F; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA., Floyd BJ; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA., Levy RJ; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA., Cusmano-Ozog KP; Department of Pathology, Stanford University, Stanford, California, USA., Feigenbaum AS; Division of Medical Genetics, Department of Pediatrics, Rady Children's Hospital and University of California, San Diego, California, USA., Ruzhnikov MRZ; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Division of Child Neurology, Department of Neurology, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA., Lee CU; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA., Enns GM; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1848-1853. Date of Electronic Publication: 2021 Mar 08.

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.

Autor: Fraser JL; Pediatrics Residency Program, Children's National Medical Center, Washington, DC, USA; Medical Genetics Training Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Vanderver A; Division of Neurology, Children's National Medical Center, Washington, DC, USA., Yang S; Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA., Chang T; Division of Neurology, Children's National Medical Center, Washington, DC, USA., Cramp L; Division of Neurology, Children's National Medical Center, Washington, DC, USA., Vezina G; Department of Radiology, Children's National Medical Center, Washington, DC, USA., Lichter-Konecki U; Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA., Cusmano-Ozog KP; Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA., Smpokou P; Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA., Chapman KA; Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA., Zand DJ; Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2014 Feb 11; Vol. 1, pp. 66-70. Date of Electronic Publication: 2014 Feb 11 (Print Publication: 2014).