{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:51Z","timestamp":1786976811846,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,11,21]],"date-time":"2020-11-21T00:00:00Z","timestamp":1605916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    There is a shortage of genetics providers worldwide and access is limited to large academic centers. Telemedicine programs can facilitate access to genetic services to patients living in remote locations. The goal of this study was to improve access to genetic services in the Dominican Republic by creating a partnership model between a pediatrician and geneticist. This approach has been used within the United States but not in the setting of two different countries, healthcare system, and cultures. Patients were referred to the Centro de Obstetricia y Ginecologia program if a syndromic or genetic etiology was suspected by their local provider. Pediatrician first evaluated all patients prior to telemedicine appointment to review family and medical history. All genetic visits were scheduled within 2\u2009weeks of referral in collaboration with telehealth program at Cincinnati Children's Hospital Medical Center. A total of 66 individuals were evaluated during a period of 5\u2009years. Fifty\u2010seven individuals underwent genetic studies, and a molecular diagnosis was made in 39 individuals. Exome sequencing was the most common first line test when differential diagnosis was broad (\n                    <jats:italic>n<\/jats:italic>\n                    = 40). The most common inheritance was autosomal recessive in 15 individuals, followed by 13 individuals with autosomal dominant disorders, 7 individuals X\u2010linked disorders, and 4 individuals with chromosomal abnormalities. This study provides data to support utility of geneticist and pediatrician partnership to provide outreach telemedicine diagnostics and management services for rare diseases in an international setting.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.31859","type":"journal-article","created":{"date-parts":[[2020,11,21]],"date-time":"2020-11-21T06:52:49Z","timestamp":1605941569000},"page":"996-1008","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist"],"prefix":"10.1002","volume":"184","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4003-999X","authenticated-orcid":false,"given":"Rafael","family":"Mena","sequence":"first","affiliation":[{"name":"Neonatal Intensive Care Unit Centro de Obstetricia y Ginecologia  Santo Domingo Dominican Republic"},{"name":"Division of Neonatology Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8492-7211","authenticated-orcid":false,"given":"Esperanza","family":"Mendoza","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit Centro de Obstetricia y Ginecologia  Santo Domingo Dominican Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Gomez Pe\u00f1a","sequence":"additional","affiliation":[{"name":"Centro Medico Moderno  Santo Domingo Dominican Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. Alexander","family":"Valencia","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan","family":"Ullah","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch National Eye Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3015-3545","authenticated-orcid":false,"given":"Robert B.","family":"Hufnagel","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch National Eye Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3348-3531","authenticated-orcid":false,"given":"Carlos E.","family":"Prada","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics College of Medicine, University of Cincinnati  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.15"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00399-012-0222-x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.668"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-1517"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz111"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2018.04.038"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijerph17134866"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.40"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1375\/twin.14.4.343"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2019.106854"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.45"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1377\/hlthaff.2018.05274"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.164"},{"key":"e_1_2_8_15_1","volume-title":"Telemedicine: Emerging technologies, applications and impact on health care outcomes","author":"Raad H. 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