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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. Among authors: alderman e. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Fischer-Zirnsak B, et al. Among authors: alderman e. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353024 Free PMC article.
The practice of genomic medicine: A delineation of the process and its governing principles.
Handra J, Elbert A, Gazzaz N, Moller-Hansen A, Hyunh S, Lee HK, Boerkoel P, Alderman E, Anderson E, Clarke L, Hamilton S, Hamman R, Hughes S, Ip S, Langlois S, Lee M, Li L, Mackenzie F, Patel MS, Prentice LM, Sangha K, Sato L, Seath K, Seppelt M, Swenerton A, Warnock L, Zambonin JL, Boerkoel CF, Chin HL, Armstrong L. Handra J, et al. Among authors: alderman e. Front Med (Lausanne). 2023 Jan 12;9:1071348. doi: 10.3389/fmed.2022.1071348. eCollection 2022. Front Med (Lausanne). 2023. PMID: 36714130 Free PMC article.
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E; Undiagnosed Diseases Network; Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV. Morimoto M, et al. Among authors: alderman e. NPJ Genom Med. 2023 Feb 10;8(1):4. doi: 10.1038/s41525-022-00343-8. NPJ Genom Med. 2023. PMID: 36765070 Free PMC article.
Confidentiality in the Care of Adolescents: Technical Report.
Chung RJ, Lee JB, Hackell JM, Alderman EM; COMMITTEE ON ADOLESCENCE; COMMITTEE ON PRACTICE & AMBULATORY MEDICINE. Chung RJ, et al. Among authors: alderman em. Pediatrics. 2024 May 1;153(5):e2024066327. doi: 10.1542/peds.2024-066327. Pediatrics. 2024. PMID: 38646698 Review.
Confidentiality in the Care of Adolescents: Policy Statement.
Chung RJ, Lee JB, Hackell JM, Alderman EM; COMMITTEE ON ADOLESCENCE; COMMITTEE ON PRACTICE & AMBULATORY MEDICINE. Chung RJ, et al. Among authors: alderman em. Pediatrics. 2024 May 1;153(5):e2024066326. doi: 10.1542/peds.2024-066326. Pediatrics. 2024. PMID: 38646690
Relationship between epa level of supervision with their associated subcompetency milestone levels in pediatric fellow assessment.
Mink RB, Carraccio CL, Herman BE, Weiss P, Turner DA, Stafford DEJ, McGann KA, Kesselheim J, Hsu DC, High PC, Fussell JJ, Curran ML, Chess PR, Sauer C, Pitts S, Myers AL, Mahan JD, Dammann CEL, Aye T, Schwartz A; Subspecialty Pediatrics Investigator Network. Mink RB, et al. BMC Med Educ. 2023 Oct 3;23(1):720. doi: 10.1186/s12909-023-04689-0. BMC Med Educ. 2023. PMID: 37789289 Free PMC article.
327 results