Ontology type: schema:ScholarlyArticle
2019-09-17
AUTHORSFutoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M. White, Mari Matsuo, Kayoko Saito, Shubha Phadke, Tomoki Kosho, Patrick Yap, Manisha Goyal, Lorne A. Clarke, Rani Sachdev, George McGillivray, Richard J. Leventer, Chirag Patel, Takanori Yamagata, Hitoshi Osaka, Yoshiya Hisaeda, Hirofumi Ohashi, Kenji Shimizu, Keisuke Nagasaki, Junpei Hamada, Sumito Dateki, Takashi Sato, Yasutsugu Chinen, Tomonari Awaya, Takeo Kato, Kougoro Iwanaga, Masahiko Kawai, Takashi Matsuoka, Yoshikazu Shimoji, Tiong Yang Tan, Seema Kapoor, Nerine Gregersen, Massimiliano Rossi, Mathieu Marie-Laure, Lesley McGregor, Kimihiko Oishi, Lakshmi Mehta, Greta Gillies, Paul J. Lockhart, Kate Pope, Anju Shukla, Katta Mohan Girisha, Ghada M. H. Abdel-Salam, David Mowat, David Coman, Ok Hwa Kim, Marie-Pierre Cordier, Kate Gibson, Jeff Milunsky, Jan Liebelt, Helen Cox, Salima El Chehadeh, Annick Toutain, Ken Saida, Hiromi Aoi, Gaku Minase, Naomi Tsuchida, Kazuhiro Iwama, Yuri Uchiyama, Toshifumi Suzuki, Kohei Hamanaka, Yoshiteru Azuma, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Atsushi Takata, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
ABSTRACTCoffin–Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts. More... »
PAGES1173-1186
http://scigraph.springernature.com/pub.10.1038/s10038-019-0667-4
DOIhttp://dx.doi.org/10.1038/s10038-019-0667-4
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1121036638
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/31530938
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Genetics",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Abnormalities, Multiple",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Cohort Studies",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Face",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Association Studies",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Predisposition to Disease",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Variation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Hand Deformities, Congenital",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Intellectual Disability",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Micrognathism",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Neck",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Sekiguchi",
"givenName": "Futoshi",
"id": "sg:person.07674142554.07",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07674142554.07"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Faculty of Nutritional Science, Sagami Women\u2019s University, Sagamihara, Kanagawa, Japan",
"id": "http://www.grid.ac/institutes/grid.444649.f",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"Faculty of Nutritional Science, Sagami Women\u2019s University, Sagamihara, Kanagawa, Japan"
],
"type": "Organization"
},
"familyName": "Tsurusaki",
"givenName": "Yoshinori",
"id": "sg:person.01162367164.30",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162367164.30"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Medical Genetics, Osaka Women\u2019s and Children\u2019s Hospital, Osaka, Japan",
"id": "http://www.grid.ac/institutes/grid.416629.e",
"name": [
"Department of Medical Genetics, Osaka Women\u2019s and Children\u2019s Hospital, Osaka, Japan"
],
"type": "Organization"
},
"familyName": "Okamoto",
"givenName": "Nobuhiko",
"id": "sg:person.01050753065.21",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050753065.21"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia",
"id": "http://www.grid.ac/institutes/grid.412516.5",
"name": [
"Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia"
],
"type": "Organization"
},
"familyName": "Teik",
"givenName": "Keng Wee",
"id": "sg:person.07660636726.92",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07660636726.92"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan",
"id": "http://www.grid.ac/institutes/grid.440395.f",
"name": [
"Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan"
],
"type": "Organization"
},
"familyName": "Mizuno",
"givenName": "Seiji",
"id": "sg:person.0670142627.69",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0670142627.69"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Dokkyo Medical University, Tochigi, Japan",
"id": "http://www.grid.ac/institutes/grid.255137.7",
"name": [
"Department of Pediatrics, Dokkyo Medical University, Tochigi, Japan"
],
"type": "Organization"
},
"familyName": "Suzumura",
"givenName": "Hiroshi",
"id": "sg:person.01322657544.64",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322657544.64"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "CHU Nantes, Service de Genetique Medicale, Nantes, France",
"id": "http://www.grid.ac/institutes/grid.277151.7",
"name": [
"CHU Nantes, Service de Genetique Medicale, Nantes, France"
],
"type": "Organization"
},
"familyName": "Isidor",
"givenName": "Bertrand",
"id": "sg:person.0727401070.60",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0727401070.60"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia",
"id": "http://www.grid.ac/institutes/grid.412516.5",
"name": [
"Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia"
],
"type": "Organization"
},
"familyName": "Ong",
"givenName": "Winnie Peitee",
"id": "sg:person.01222703661.12",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222703661.12"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia",
"id": "http://www.grid.ac/institutes/grid.412516.5",
"name": [
"Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia"
],
"type": "Organization"
},
"familyName": "Haniffa",
"givenName": "Muzhirah",
"id": "sg:person.0610515100.19",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610515100.19"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Paediatrics, University of Melbourne, Melbourne, Australia",
"id": "http://www.grid.ac/institutes/grid.1008.9",
"name": [
"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Melbourne, Australia",
"Department of Paediatrics, University of Melbourne, Melbourne, Australia"
],
"type": "Organization"
},
"familyName": "White",
"givenName": "Susan M.",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Medical Genetics, Tokyo Women\u2019s Medical University, Tokyo, Japan",
"id": "http://www.grid.ac/institutes/grid.410818.4",
"name": [
"Institute of Medical Genetics, Tokyo Women\u2019s Medical University, Tokyo, Japan"
],
"type": "Organization"
},
"familyName": "Matsuo",
"givenName": "Mari",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Institute of Medical Genetics, Tokyo Women\u2019s Medical University, Tokyo, Japan",
"id": "http://www.grid.ac/institutes/grid.410818.4",
"name": [
"Institute of Medical Genetics, Tokyo Women\u2019s Medical University, Tokyo, Japan"
],
"type": "Organization"
},
"familyName": "Saito",
"givenName": "Kayoko",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India",
"id": "http://www.grid.ac/institutes/grid.263138.d",
"name": [
"Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India"
],
"type": "Organization"
},
"familyName": "Phadke",
"givenName": "Shubha",
"id": "sg:person.0604460242.44",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0604460242.44"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan",
"id": "http://www.grid.ac/institutes/grid.263518.b",
"name": [
"Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan"
],
"type": "Organization"
},
"familyName": "Kosho",
"givenName": "Tomoki",
"id": "sg:person.0742621315.00",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742621315.00"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand",
"id": "http://www.grid.ac/institutes/grid.9654.e",
"name": [
"Genetic Health Service New Zealand, Auckland, New Zealand",
"Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand"
],
"type": "Organization"
},
"familyName": "Yap",
"givenName": "Patrick",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Rare Disease Clinic, J K Lone Hospital, SMS Medical College, Jaipur, Rajasthan, India",
"id": "http://www.grid.ac/institutes/grid.416077.3",
"name": [
"Rare Disease Clinic, J K Lone Hospital, SMS Medical College, Jaipur, Rajasthan, India"
],
"type": "Organization"
},
"familyName": "Goyal",
"givenName": "Manisha",
"id": "sg:person.0724034404.16",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724034404.16"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "British Columbia Children\u2019s Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada",
"id": "http://www.grid.ac/institutes/grid.17091.3e",
"name": [
"British Columbia Children\u2019s Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada"
],
"type": "Organization"
},
"familyName": "Clarke",
"givenName": "Lorne A.",
"id": "sg:person.01265114011.21",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01265114011.21"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre for Clinical Genetics, Sydney Children\u2019s Hospital, Randwick, NSW, Australia",
"id": "http://www.grid.ac/institutes/grid.414009.8",
"name": [
"Centre for Clinical Genetics, Sydney Children\u2019s Hospital, Randwick, NSW, Australia"
],
"type": "Organization"
},
"familyName": "Sachdev",
"givenName": "Rani",
"id": "sg:person.0643620576.54",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643620576.54"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Melbourne, Australia",
"id": "http://www.grid.ac/institutes/grid.1058.c",
"name": [
"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Melbourne, Australia"
],
"type": "Organization"
},
"familyName": "McGillivray",
"givenName": "George",
"id": "sg:person.0630474776.51",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630474776.51"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Royal Children\u2019s Hospital Department of Neurology, Murdoch Children\u2019s Research Institute and University of Melbourne Department of Pediatrics, 3052, Parkville, Australia",
"id": "http://www.grid.ac/institutes/grid.416107.5",
"name": [
"Royal Children\u2019s Hospital Department of Neurology, Murdoch Children\u2019s Research Institute and University of Melbourne Department of Pediatrics, 3052, Parkville, Australia"
],
"type": "Organization"
},
"familyName": "Leventer",
"givenName": "Richard J.",
"id": "sg:person.01156724047.31",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01156724047.31"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Genetic Health Queensland, Royal Brisbane and Women\u2019s Hospital, Brisbane, QLD, Australia",
"id": "http://www.grid.ac/institutes/grid.416100.2",
"name": [
"Genetic Health Queensland, Royal Brisbane and Women\u2019s Hospital, Brisbane, QLD, Australia"
],
"type": "Organization"
},
"familyName": "Patel",
"givenName": "Chirag",
"id": "sg:person.0751664276.17",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0751664276.17"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Jichi Medical University, Tochigi, Japan",
"id": "http://www.grid.ac/institutes/grid.410804.9",
"name": [
"Department of Pediatrics, Jichi Medical University, Tochigi, Japan"
],
"type": "Organization"
},
"familyName": "Yamagata",
"givenName": "Takanori",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Jichi Medical University, Tochigi, Japan",
"id": "http://www.grid.ac/institutes/grid.410804.9",
"name": [
"Department of Pediatrics, Jichi Medical University, Tochigi, Japan"
],
"type": "Organization"
},
"familyName": "Osaka",
"givenName": "Hitoshi",
"id": "sg:person.0577554604.29",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577554604.29"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Neonatology, Japanese Red Cross Medical Center, Tokyo, Japan",
"id": "http://www.grid.ac/institutes/grid.414929.3",
"name": [
"Department of Neonatology, Japanese Red Cross Medical Center, Tokyo, Japan"
],
"type": "Organization"
},
"familyName": "Hisaeda",
"givenName": "Yoshiya",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Medical Genetics, Saitama Children\u2019s Medical Center, Saitama, Japan",
"id": "http://www.grid.ac/institutes/grid.416697.b",
"name": [
"Division of Medical Genetics, Saitama Children\u2019s Medical Center, Saitama, Japan"
],
"type": "Organization"
},
"familyName": "Ohashi",
"givenName": "Hirofumi",
"id": "sg:person.01022561320.02",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01022561320.02"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Medical Genetics, Saitama Children\u2019s Medical Center, Saitama, Japan",
"id": "http://www.grid.ac/institutes/grid.416697.b",
"name": [
"Division of Medical Genetics, Saitama Children\u2019s Medical Center, Saitama, Japan"
],
"type": "Organization"
},
"familyName": "Shimizu",
"givenName": "Kenji",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan",
"id": "http://www.grid.ac/institutes/grid.260975.f",
"name": [
"Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan"
],
"type": "Organization"
},
"familyName": "Nagasaki",
"givenName": "Keisuke",
"id": "sg:person.0631055057.53",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0631055057.53"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan",
"id": "http://www.grid.ac/institutes/grid.255464.4",
"name": [
"Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan"
],
"type": "Organization"
},
"familyName": "Hamada",
"givenName": "Junpei",
"id": "sg:person.016060070341.30",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016060070341.30"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Dateki",
"givenName": "Sumito",
"id": "sg:person.01023477015.64",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023477015.64"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Asahikawa-Kosei General Hospital, Hokkaido, Japan",
"id": "http://www.grid.ac/institutes/None",
"name": [
"Asahikawa-Kosei General Hospital, Hokkaido, Japan"
],
"type": "Organization"
},
"familyName": "Sato",
"givenName": "Takashi",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Child Health and Welfare, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan",
"id": "http://www.grid.ac/institutes/grid.267625.2",
"name": [
"Department of Child Health and Welfare, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan"
],
"type": "Organization"
},
"familyName": "Chinen",
"givenName": "Yasutsugu",
"id": "sg:person.01331352763.91",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331352763.91"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan",
"id": "http://www.grid.ac/institutes/grid.258799.8",
"name": [
"Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan",
"Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan"
],
"type": "Organization"
},
"familyName": "Awaya",
"givenName": "Tomonari",
"id": "sg:person.0777336114.85",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0777336114.85"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan",
"id": "http://www.grid.ac/institutes/grid.258799.8",
"name": [
"Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan"
],
"type": "Organization"
},
"familyName": "Kato",
"givenName": "Takeo",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan",
"id": "http://www.grid.ac/institutes/grid.258799.8",
"name": [
"Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan"
],
"type": "Organization"
},
"familyName": "Iwanaga",
"givenName": "Kougoro",
"id": "sg:person.0646142737.53",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0646142737.53"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan",
"id": "http://www.grid.ac/institutes/grid.258799.8",
"name": [
"Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan"
],
"type": "Organization"
},
"familyName": "Kawai",
"givenName": "Masahiko",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of General Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children\u2019s Medical Center, Okinawa, Japan",
"id": "http://www.grid.ac/institutes/None",
"name": [
"Department of General Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children\u2019s Medical Center, Okinawa, Japan"
],
"type": "Organization"
},
"familyName": "Matsuoka",
"givenName": "Takashi",
"id": "sg:person.016473775470.19",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016473775470.19"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of General Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children\u2019s Medical Center, Okinawa, Japan",
"id": "http://www.grid.ac/institutes/None",
"name": [
"Department of General Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children\u2019s Medical Center, Okinawa, Japan"
],
"type": "Organization"
},
"familyName": "Shimoji",
"givenName": "Yoshikazu",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Paediatrics, University of Melbourne, Melbourne, Australia",
"id": "http://www.grid.ac/institutes/grid.1008.9",
"name": [
"Victorian Clinical Genetics Services, Murdoch Children\u2019s Research Institute, Melbourne, Australia",
"Department of Paediatrics, University of Melbourne, Melbourne, Australia"
],
"type": "Organization"
},
"familyName": "Tan",
"givenName": "Tiong Yang",
"id": "sg:person.012602157602.04",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012602157602.04"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India",
"id": "http://www.grid.ac/institutes/grid.414698.6",
"name": [
"Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India"
],
"type": "Organization"
},
"familyName": "Kapoor",
"givenName": "Seema",
"id": "sg:person.01263133773.03",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01263133773.03"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Genetic Health Service New Zealand, Auckland, New Zealand",
"id": "http://www.grid.ac/institutes/None",
"name": [
"Genetic Health Service New Zealand, Auckland, New Zealand"
],
"type": "Organization"
},
"familyName": "Gregersen",
"givenName": "Nerine",
"id": "sg:person.0744747664.59",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0744747664.59"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Hospices Civils de Lyon, Service de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement, and INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, UCBL1, Bron, France",
"id": "http://www.grid.ac/institutes/grid.461862.f",
"name": [
"Hospices Civils de Lyon, Service de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement, and INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, UCBL1, Bron, France"
],
"type": "Organization"
},
"familyName": "Rossi",
"givenName": "Massimiliano",
"id": "sg:person.01052061041.02",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01052061041.02"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Hospices Civils de Lyon, Service de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement, and INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, UCBL1, Bron, France",
"id": "http://www.grid.ac/institutes/grid.461862.f",
"name": [
"Hospices Civils de Lyon, Service de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement, and INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, UCBL1, Bron, France"
],
"type": "Organization"
},
"familyName": "Marie-Laure",
"givenName": "Mathieu",
"type": "Person"
},
{
"affiliation": {
"alternateName": "South Australian Clinical Genetics Service, SA Pathology, Women\u2019s and Children\u2019s Hospital, Adelaide, Australia",
"id": "http://www.grid.ac/institutes/None",
"name": [
"South Australian Clinical Genetics Service, SA Pathology, Women\u2019s and Children\u2019s Hospital, Adelaide, Australia"
],
"type": "Organization"
},
"familyName": "McGregor",
"givenName": "Lesley",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"id": "http://www.grid.ac/institutes/grid.59734.3c",
"name": [
"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Oishi",
"givenName": "Kimihiko",
"id": "sg:person.0727104705.52",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0727104705.52"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"id": "http://www.grid.ac/institutes/grid.59734.3c",
"name": [
"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Mehta",
"givenName": "Lakshmi",
"id": "sg:person.01112475372.28",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112475372.28"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Bruce Lefroy Centre for Genetic Health Research, Murdoch Children\u2019s Research Institute, Victoria, Australia",
"id": "http://www.grid.ac/institutes/grid.1058.c",
"name": [
"Bruce Lefroy Centre for Genetic Health Research, Murdoch Children\u2019s Research Institute, Victoria, Australia"
],
"type": "Organization"
},
"familyName": "Gillies",
"givenName": "Greta",
"id": "sg:person.01204202514.26",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204202514.26"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Bruce Lefroy Centre for Genetic Health Research, Murdoch Children\u2019s Research Institute, Victoria, Australia",
"id": "http://www.grid.ac/institutes/grid.1058.c",
"name": [
"Bruce Lefroy Centre for Genetic Health Research, Murdoch Children\u2019s Research Institute, Victoria, Australia"
],
"type": "Organization"
},
"familyName": "Lockhart",
"givenName": "Paul J.",
"id": "sg:person.016214262744.46",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016214262744.46"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Bruce Lefroy Centre for Genetic Health Research, Murdoch Children\u2019s Research Institute, Victoria, Australia",
"id": "http://www.grid.ac/institutes/grid.1058.c",
"name": [
"Bruce Lefroy Centre for Genetic Health Research, Murdoch Children\u2019s Research Institute, Victoria, Australia"
],
"type": "Organization"
},
"familyName": "Pope",
"givenName": "Kate",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India",
"id": "http://www.grid.ac/institutes/grid.465547.1",
"name": [
"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India"
],
"type": "Organization"
},
"familyName": "Shukla",
"givenName": "Anju",
"id": "sg:person.01172055135.94",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01172055135.94"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India",
"id": "http://www.grid.ac/institutes/grid.465547.1",
"name": [
"Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India"
],
"type": "Organization"
},
"familyName": "Girisha",
"givenName": "Katta Mohan",
"id": "sg:person.0764126607.90",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0764126607.90"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt",
"id": "http://www.grid.ac/institutes/grid.419725.c",
"name": [
"Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt"
],
"type": "Organization"
},
"familyName": "Abdel-Salam",
"givenName": "Ghada M. H.",
"id": "sg:person.0706351575.00",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0706351575.00"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Medical Genetics, Sydney Children\u2019s Hospital, Sydney, NSW, Australia",
"id": "http://www.grid.ac/institutes/grid.414009.8",
"name": [
"Department of Medical Genetics, Sydney Children\u2019s Hospital, Sydney, NSW, Australia"
],
"type": "Organization"
},
"familyName": "Mowat",
"givenName": "David",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Paediatrics, The Wesley Hospital, Brisbane, QLD, Australia",
"id": "http://www.grid.ac/institutes/grid.417021.1",
"name": [
"Department of Paediatrics, The Wesley Hospital, Brisbane, QLD, Australia"
],
"type": "Organization"
},
"familyName": "Coman",
"givenName": "David",
"id": "sg:person.015001250510.22",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015001250510.22"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Radiology, Ajou University Hospital, Suwon, Korea",
"id": "http://www.grid.ac/institutes/grid.411261.1",
"name": [
"Department of Radiology, Ajou University Hospital, Suwon, Korea"
],
"type": "Organization"
},
"familyName": "Kim",
"givenName": "Ok Hwa",
"id": "sg:person.0713751537.96",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0713751537.96"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Service de Genetique, Hospices Civils de Lyon, Bron, France",
"id": "http://www.grid.ac/institutes/grid.413852.9",
"name": [
"Service de Genetique, Hospices Civils de Lyon, Bron, France"
],
"type": "Organization"
},
"familyName": "Cordier",
"givenName": "Marie-Pierre",
"id": "sg:person.0673033142.84",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0673033142.84"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Genetic Health Service New Zealand, Christchurch Hospital, Christchurch, New Zealand",
"id": "http://www.grid.ac/institutes/grid.414299.3",
"name": [
"Genetic Health Service New Zealand, Christchurch Hospital, Christchurch, New Zealand"
],
"type": "Organization"
},
"familyName": "Gibson",
"givenName": "Kate",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Center for Human Genetics Inc, Cambridge, MA, USA",
"id": "http://www.grid.ac/institutes/None",
"name": [
"Center for Human Genetics Inc, Cambridge, MA, USA"
],
"type": "Organization"
},
"familyName": "Milunsky",
"givenName": "Jeff",
"type": "Person"
},
{
"affiliation": {
"alternateName": "South Australian Clinical Genetics Services, Women\u2019s and Children\u2019s Hospital, North Adelaide, Australia",
"id": "http://www.grid.ac/institutes/grid.1694.a",
"name": [
"South Australian Clinical Genetics Services, Women\u2019s and Children\u2019s Hospital, North Adelaide, Australia"
],
"type": "Organization"
},
"familyName": "Liebelt",
"givenName": "Jan",
"id": "sg:person.01204007612.44",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01204007612.44"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "West Midlands Regional Genetics Service, Birmingham Women\u2019s NHS Foundation Trust, Birmingham Women\u2019s Hospital, Edgbaston, B15 2TG, Birmingham, UK",
"id": "http://www.grid.ac/institutes/grid.423077.5",
"name": [
"West Midlands Regional Genetics Service, Birmingham Women\u2019s NHS Foundation Trust, Birmingham Women\u2019s Hospital, Edgbaston, B15 2TG, Birmingham, UK"
],
"type": "Organization"
},
"familyName": "Cox",
"givenName": "Helen",
"id": "sg:person.010346265435.12",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010346265435.12"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Service de Genetique Medicale, Hopital de Hautepierre, Strasbourg, France",
"id": "http://www.grid.ac/institutes/grid.412201.4",
"name": [
"Service de Genetique Medicale, Hopital de Hautepierre, Strasbourg, France"
],
"type": "Organization"
},
"familyName": "El Chehadeh",
"givenName": "Salima",
"id": "sg:person.0603624440.44",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0603624440.44"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Service de Genetique, CHRU de Tours, Tours, France",
"id": "http://www.grid.ac/institutes/grid.411167.4",
"name": [
"Service de Genetique, CHRU de Tours, Tours, France"
],
"type": "Organization"
},
"familyName": "Toutain",
"givenName": "Annick",
"id": "sg:person.0717621215.12",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717621215.12"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Saida",
"givenName": "Ken",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan",
"id": "http://www.grid.ac/institutes/grid.258269.2",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan"
],
"type": "Organization"
},
"familyName": "Aoi",
"givenName": "Hiromi",
"id": "sg:person.011121162333.73",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011121162333.73"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Minase",
"givenName": "Gaku",
"id": "sg:person.01003603365.25",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01003603365.25"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Tsuchida",
"givenName": "Naomi",
"id": "sg:person.010452633515.16",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010452633515.16"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Iwama",
"givenName": "Kazuhiro",
"id": "sg:person.013442313451.40",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013442313451.40"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan",
"id": "http://www.grid.ac/institutes/grid.470126.6",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan",
"Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan"
],
"type": "Organization"
},
"familyName": "Uchiyama",
"givenName": "Yuri",
"id": "sg:person.01227034056.86",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01227034056.86"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan",
"id": "http://www.grid.ac/institutes/grid.258269.2",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan"
],
"type": "Organization"
},
"familyName": "Suzuki",
"givenName": "Toshifumi",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Hamanaka",
"givenName": "Kohei",
"id": "sg:person.0777321437.45",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0777321437.45"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Azuma",
"givenName": "Yoshiteru",
"id": "sg:person.01223446000.53",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01223446000.53"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Fujita",
"givenName": "Atsushi",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"id": "http://www.grid.ac/institutes/grid.59734.3c",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Imagawa",
"givenName": "Eri",
"id": "sg:person.01370770644.05",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01370770644.05"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Koshimizu",
"givenName": "Eriko",
"id": "sg:person.01150200674.87",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01150200674.87"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Takata",
"givenName": "Atsushi",
"id": "sg:person.0676115342.30",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0676115342.30"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Mitsuhashi",
"givenName": "Satomi",
"id": "sg:person.01277303054.11",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277303054.11"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan",
"id": "http://www.grid.ac/institutes/grid.470126.6",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan"
],
"type": "Organization"
},
"familyName": "Miyatake",
"givenName": "Satoko",
"id": "sg:person.0661323161.22",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661323161.22"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Mizuguchi",
"givenName": "Takeshi",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Miyake",
"givenName": "Noriko",
"id": "sg:person.01027727764.75",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan",
"id": "http://www.grid.ac/institutes/grid.268441.d",
"name": [
"Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan"
],
"type": "Organization"
},
"familyName": "Matsumoto",
"givenName": "Naomichi",
"id": "sg:person.01020376771.12",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020376771.12"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/ng.2217",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018858352",
"https://doi.org/10.1038/ng.2217"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00439-017-1757-z",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1074202509",
"https://doi.org/10.1007/s00439-017-1757-z"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/1471-2164-12-184",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022069749",
"https://doi.org/10.1186/1471-2164-12-184"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.1105",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027152244",
"https://doi.org/10.1038/ng.1105"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ejhg.2015.5",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1043564815",
"https://doi.org/10.1038/ejhg.2015.5"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13023-016-0474-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016172526",
"https://doi.org/10.1186/s13023-016-0474-3"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1040",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1051337704",
"https://doi.org/10.1038/ng1040"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s41431-018-0143-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1103677250",
"https://doi.org/10.1038/s41431-018-0143-1"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s12864-015-1898-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007987431",
"https://doi.org/10.1186/s12864-015-1898-1"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s10038-019-0571-y",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1112136398",
"https://doi.org/10.1038/s10038-019-0571-y"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ncomms5011",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1048014942",
"https://doi.org/10.1038/ncomms5011"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature14135",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007784461",
"https://doi.org/10.1038/nature14135"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13073-018-0606-6",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1110465224",
"https://doi.org/10.1186/s13073-018-0606-6"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.2219",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003601545",
"https://doi.org/10.1038/ng.2219"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/gim.2014.154",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027316421",
"https://doi.org/10.1038/gim.2014.154"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s10038-017-0404-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1100829294",
"https://doi.org/10.1038/s10038-017-0404-9"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s41065-018-0069-1",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1107302809",
"https://doi.org/10.1186/s41065-018-0069-1"
],
"type": "CreativeWork"
}
],
"datePublished": "2019-09-17",
"datePublishedReg": "2019-09-17",
"description": "Coffin\u2013Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of the fifth digit and nails. Pathogenic variants for CSS have been found in genes encoding proteins in the BAF (BRG1-associated factor) chromatin-remodeling complex. To date, more than 150 CSS patients with pathogenic variants in nine BAF-related genes have been reported. We previously reported 71 patients of whom 39 had pathogenic variants. Since then, we have recruited an additional 182 CSS-suspected patients. We performed comprehensive genetic analysis on these 182 patients and on the previously unresolved 32 patients, targeting pathogenic single nucleotide variants, short insertions/deletions and copy number variations (CNVs). We confirmed 78 pathogenic variations in 78 patients. Pathogenic variations in ARID1B, SMARCB1, SMARCA4, ARID1A, SOX11, SMARCE1, and PHF6 were identified in 48, 8, 7, 6, 4, 1, and 1 patients, respectively. In addition, we found three CNVs including SMARCA2. Of particular note, we found a partial deletion of SMARCB1 in one CSS patient and we thoroughly investigated the resulting abnormal transcripts.",
"genre": "article",
"id": "sg:pub.10.1038/s10038-019-0667-4",
"inLanguage": "en",
"isAccessibleForFree": false,
"isFundedItemOf": [
{
"id": "sg:grant.9339712",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.9338673",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.5557770",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.8428681",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.9337922",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.9336992",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.9618372",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.9618408",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.6819771",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.6835572",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.6956893",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.5907327",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.9337871",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1294984",
"issn": [
"1434-5161",
"1435-232X"
],
"name": "Journal of Human Genetics",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "12",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "64"
}
],
"keywords": [
"pathogenic variants",
"CS patients",
"coarse facial features",
"pathogenic single nucleotide variants",
"Coffin-Siris syndrome",
"syndrome patients",
"large cohort",
"pathogenic variation",
"patients",
"fifth digit",
"genetic abnormalities",
"comprehensive genetic analysis",
"congenital disorder",
"intellectual disability",
"single nucleotide variants",
"SMARCB1",
"BAF chromatin-remodeling complex",
"partial deletion",
"nucleotide variants",
"abnormal transcripts",
"syndrome",
"hypoplasia",
"cohort",
"abnormalities",
"variants",
"facial features",
"disorders",
"number variations",
"ARID1A",
"nail",
"disability",
"insertions/deletions",
"SOX11",
"deletion",
"ARID1B",
"short insertions/deletions",
"SMARCA4",
"genes",
"SMARCE1",
"PHF6",
"genetic analysis",
"SMARCA2",
"particular note",
"CNVs",
"protein",
"date",
"digits",
"transcripts",
"addition",
"chromatin-remodeling complex",
"CS",
"analysis",
"features",
"variation",
"note",
"BAF",
"complexes"
],
"name": "Genetic abnormalities in a large cohort of Coffin\u2013Siris syndrome patients",
"pagination": "1173-1186",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1121036638"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/s10038-019-0667-4"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"31530938"
]
}
],
"sameAs": [
"https://doi.org/10.1038/s10038-019-0667-4",
"https://app.dimensions.ai/details/publication/pub.1121036638"
],
"sdDataset": "articles",
"sdDatePublished": "2022-05-20T07:36",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220519/entities/gbq_results/article/article_821.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1038/s10038-019-0667-4"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s10038-019-0667-4'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s10038-019-0667-4'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s10038-019-0667-4'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s10038-019-0667-4'
This table displays all metadata directly associated to this object as RDF triples.
925 TRIPLES
22 PREDICATES
111 URIs
86 LITERALS
18 BLANK NODES