{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T11:13:24Z","timestamp":1780658004034,"version":"3.54.1"},"reference-count":66,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T00:00:00Z","timestamp":1778025600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T00:00:00Z","timestamp":1778025600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["R01 MH110701"],"award-info":[{"award-number":["R01 MH110701"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["R01 MH126449"],"award-info":[{"award-number":["R01 MH126449"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Advances in genomics have resulted in a rapid expansion of the number of known rare genetic disorders (RGDs). However, the low frequency of RGDs presents a challenge for accurately describing the phenotypic spectrum of a given disorder. Remote phenotyping strategies are uniquely poised to address this knowledge gap. Here, we have piloted remote evaluation of cognitive ability and psychosis spectrum symptoms in 3q29 deletion syndrome (3q29del), a hallmark RGD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Individuals with 3q29del (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200921, 57% male, mean age\u2009=\u200914.3\u2009\u00b1\u20098.6\u2009years) were remotely evaluated using the Penn Computerized Neurocognitive Battery (Penn\u2010CNB), Peabody Picture Vocabulary Test (PPVT) and the Structured Interview for Prodromal Syndromes (SIPS). Scores were compared with prior in\u2010person IQ testing results and SIPS scores from our previously published study.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Remote cognitive assessment using the Penn\u2010CNB and the PPVT accurately captured full\u2010scale IQ (\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u20090.710,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.001) and verbal IQ (\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u20090.637,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.003), respectively, as compared with in\u2010person assessment with gold\u2010standard instruments. Psychosis spectrum symptoms measured using the SIPS were significantly correlated between in\u2010person and remote evaluations (total score\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u20090.753,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.003; positive domain score\n                      <jats:italic>r<\/jats:italic>\n                      \u2009=\u20090.806,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.0009).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Based on the successful pilot, we designed a protocol for remote phenotyping of individuals with 3q29del. The phenotyping battery is comprised of caregiver\u2010report and direct assessments to capture the spectrum of neurodevelopmental, neuropsychiatric and medical features associated with the 3q29 deletion. While we focused on specific areas of concern for 3q29del, the high degree of phenotypic overlap between 3q29del and other RGDs renders this protocol amenable for implementation across a variety of RGDs, facilitating a deeper understanding of the phenotypic spectrum and cross\u2010disorder comparison. Ultimately, we hope that the increased utilization of remote phenotyping strategies will help to expand our understanding of RGDs at large, which will lead to improved clinical management strategies and better long\u2010term outcomes for affected individuals and their families.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jir.70116","type":"journal-article","created":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T15:34:37Z","timestamp":1778081677000},"page":"758-768","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Development and Validation of a Cross\u2010Dimensional Screening Protocol for Remote Phenotyping Applied to Individuals With 3q29 Deletion Syndrome"],"prefix":"10.1111","volume":"70","author":[{"given":"R.\u00a0M.","family":"Pollak","sequence":"first","affiliation":[{"name":"Department of Psychiatry, Robert Wood Johnson Medical School Rutgers University  New Brunswick New Jersey USA"},{"name":"Center for Advanced Biotechnology and Medicine Rutgers University  New Brunswick New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Sefik","sequence":"additional","affiliation":[{"name":"Princeton Neuroscience Institute Princeton University  Princeton New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Klaiman","sequence":"additional","affiliation":[{"name":"Marcus Autism Center, Childrens Healthcare of Atlanta &amp; Emory University School of Medicine  Atlanta Georgia USA"},{"name":"Department of Pediatrics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.\u00a0K.","family":"Harner","sequence":"additional","affiliation":[{"name":"Center for Advanced Biotechnology and Medicine Rutgers University  New Brunswick New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.\u00a0V.","family":"Bishop","sequence":"additional","affiliation":[{"name":"Center for Advanced Biotechnology and Medicine Rutgers University  New Brunswick New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7058-8167","authenticated-orcid":false,"given":"J.\u00a0R.","family":"Purcell","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Robert Wood Johnson Medical School Rutgers University  New Brunswick New Jersey USA"},{"name":"Center for Advanced Biotechnology and Medicine Rutgers University  New Brunswick New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Irving","sequence":"additional","affiliation":[{"name":"Center for Advanced Biotechnology and Medicine Rutgers University  New Brunswick New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8091-554X","authenticated-orcid":false,"given":"C.\u00a0A.","family":"Saulnier","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Emory University School of Medicine  Atlanta Georgia USA"},{"name":"Neurodevelopmental Assessment &amp; Consulting Services  Decatur Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9850-3858","authenticated-orcid":false,"given":"S.","family":"Pulver","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u00a0F.","family":"Cubells","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"},{"name":"Department of Psychiatry and Behavioral Sciences Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.\u00a0F.","family":"Walker","sequence":"additional","affiliation":[{"name":"Department of Psychology Emory University  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.\u00a0M.","family":"Murphy","sequence":"additional","affiliation":[{"name":"General Internal Medicine University of Colorado Anschutz School of Medicine  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u00a0G.","family":"Mulle","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Robert Wood Johnson Medical School Rutgers University  New Brunswick New Jersey USA"},{"name":"Center for Advanced Biotechnology and Medicine Rutgers University  New Brunswick New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,6]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"Manual for the ASEBA School\u2010Age Forms & Profiles","author":"Achenbach T. 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