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American Journal of Medical Genetics. Part A|August 4, 2022
Unexplained regression in Down syndrome: Management of 51 patients in an international patient databaseStephanie L Santoro, Nicole T Baumer, Michelle Cornacchia, et al.
American Journal of Medical Genetics. Part A|August 8, 2022
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brainLaura Keehan, Isabel Haviland, Yoel Gofin, et al.
American Journal of Medical Genetics. Part A|August 5, 2022
Sleep disturbance is a common feature of Kabuki syndromeTyler Rapp, Allison J Kalinousky, Jennifer Johnson, et al.
American Journal of Medical Genetics. Part A|May 15, 2020
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa)Gerrye Mubungu, Guy Lukute, Prince Makay, et al.
American Journal of Medical Genetics. Part A|May 20, 2021
Novel deep intronic and frameshift mutations causing a TRIP11-related disorderYeqing Qian, Gang Hu, Min Chen, et al.
American Journal of Medical Genetics. Part A|May 14, 2021
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from TurkeyEzgi Gizem Berkay, Leyla Elkanova, Tuğba Kalaycı, et al.
American Journal of Medical Genetics. Part A|May 14, 2021
Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndromeJulianne K Postma, Luis Altamirano-Diaz, C Anthony Rupar, et al.
American Journal of Medical Genetics. Part A|May 19, 2021
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 geneSara Brunetti, Laura Malerba, Lucio Giordano, et al.
American Journal of Medical Genetics. Part A|May 21, 2021
An approach to rapid characterization of DMD copy number variants for prenatal risk assessmentHui-Lin Chin, Kieran O'Neill, Kristal Louie, et al.
American Journal of Medical Genetics. Part A|August 2, 2021
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genesCaroline M Kolvenbach, Amelie T van der Ven, Franziska Kause, et al.
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