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American Journal of Medical Genetics. Part A|March 23, 2012
Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndromeCathy A Stevens, Pei-Wen Chiang, Ludwine M MessiaenJournal of Pediatric Hematology/Oncology|April 6, 2019
Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P])Scott K Ward, Cathy A Stevens, Jennifer Keates-Baleeiro, et al.American Journal of Medical Genetics. Part A|February 1, 2020
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literatureFaith Lindsay, Ilse Anderson, Ingrid M Wentzensen, et al.American Journal of Medical Genetics. Part A|May 16, 2003
Rubinstein-Taybi syndrome medical guidelinesSusan Wiley, Susan Swayne, Jack H Rubinstein, et al.American Journal of Medical Genetics. Part A|October 3, 2018
Congenital lumbar hernia-A feature of diabetic embryopathy?Cathy A Stevens, Jacob S Hogue, Robert J Hopkin, et al.The Journal of Clinical Endocrinology and Metabolism|February 7, 2018
A Homozygous RET K666N Genotype With an MEN2A PhenotypeTania Jaber, Samuel M Hyde, Gilbert J Cote, et al.American Journal of Respiratory and Critical Care Medicine|July 29, 2006
PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthoodNick A Antic, Beth A Malow, Neale Lange, et al.Journal of Medical Genetics|October 9, 2012
Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo eventsWeimin Bi, Frank J Probst, Joanna Wiszniewska, et al.Journal of Medical Genetics|January 29, 2013
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadismHussein Daoud, Martine Tétreault, William Gibson, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2019
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnosesErica D Smith, Kirsten Blanco, Samin A Sajan, et al.Pageof 5