cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.29556278.v1
title: Supplementary Material for: Genetic analysis strategy for diagnosing congenital heart disease

description: Introduction: Congenital heart defects (CHD) affect approximately 10-12 per 1000 newborns globally, and they can be divided into simple cardiac defects or severe and complex ones. Its etiology derives from environmental and genetic causes, with 20-30% of cases being genetic conditions ranging from alterations such as aneuploidies, monogenic defects, and copy number variations (CNV’s). Even with the severity of this condition, many patients remain with an uncertain diagnosis. This study aims to evaluate patients with CHD who are still undiagnosed but have already undergone genetic testing and evaluation and provide a guideline that can be followed in third-world countries to make CHD diagnostics faster and easier. Method: DNA was extracted from all patients included, first the samples were analyzed with the P311 MLPA kit specific to CHD, and the patients that remain undiagnostic were analyzed with the P245 MLPA kit for microdeletions. Results: CNV’s were identified in 36% of the patients, representing a high detection rate. Conclusion: The patient selection and prior clinical evaluation may explain our high detection rate, as much as the Karyotype and FISH normal results used for screening, combined with using two MLPA kits for detection.
DOI: 10.6084/m9.figshare.29556281
title: Supplementary Material for: First Reported Co-occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review

description: Abstract
Introduction: Bardet-Biedl Syndrome (BBS) is a genetically heterogeneous, multisystemic ciliopathy, whereas Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and restricted, repetitive behaviors. While both conditions are independently associated with genetic etiologies, their co-occurrence is exceptionally rare. To date, no prior report has confirmed such co-occurrence through molecular genetic analysis.
Case Presentation: We report a 4-year-old male diagnosed with both BBS Type 10 and ASD. Whole Exome Sequencing (WES) revealed a homozygous pathogenic variant in the BBS10 gene and a novel intronic variant in the OGT gene, classified as a Variant of Uncertain Significance (VUS). Clinically, the patient exhibited features consistent with both disorders, including retinal degeneration, polydactyly, renal anomalies, hypotonia, and ASD-specific behavioral patterns.
Conclusion: This case represents the first genetically confirmed co-occurrence of BBS10 and ASD. The identification of a potentially contributory non-coding variant in the OGT gene provides novel insight into the shared genetic and pathophysiological mechanisms underlying ciliopathies and neurodevelopmental disorders. The findings emphasize the importance of dual diagnostic consideration in complex pediatric cases and demonstrate the value of genomic analysis in revealing rare genetic overlaps.
Keywords: Bardet-Biedl Syndrome Type 10 (BBS10), Autism Spectrum Disorder (ASD), Ciliopathy, OGT gene, Neurodevelopmental Disorders
DOI: 10.6084/m9.figshare.29556281.v1
title: Supplementary Material for: First Reported Co-occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review

description: Abstract
Introduction: Bardet-Biedl Syndrome (BBS) is a genetically heterogeneous, multisystemic ciliopathy, whereas Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction and restricted, repetitive behaviors. While both conditions are independently associated with genetic etiologies, their co-occurrence is exceptionally rare. To date, no prior report has confirmed such co-occurrence through molecular genetic analysis.
Case Presentation: We report a 4-year-old male diagnosed with both BBS Type 10 and ASD. Whole Exome Sequencing (WES) revealed a homozygous pathogenic variant in the BBS10 gene and a novel intronic variant in the OGT gene, classified as a Variant of Uncertain Significance (VUS). Clinically, the patient exhibited features consistent with both disorders, including retinal degeneration, polydactyly, renal anomalies, hypotonia, and ASD-specific behavioral patterns.
Conclusion: This case represents the first genetically confirmed co-occurrence of BBS10 and ASD. The identification of a potentially contributory non-coding variant in the OGT gene provides novel insight into the shared genetic and pathophysiological mechanisms underlying ciliopathies and neurodevelopmental disorders. The findings emphasize the importance of dual diagnostic consideration in complex pediatric cases and demonstrate the value of genomic analysis in revealing rare genetic overlaps.
Keywords: Bardet-Biedl Syndrome Type 10 (BBS10), Autism Spectrum Disorder (ASD), Ciliopathy, OGT gene, Neurodevelopmental Disorders
DOI: 10.15468/dl.yr2s5k
title: Occurrence Download

description: A dataset containing 13157 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Cornus controversa"
 ]
}

 The dataset includes 13157 records from 240 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0009795-250711103210423/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.2wr9je
title: Occurrence Download

description: A dataset containing 2 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Glyptosternum tiong"
 ]
}

 The dataset includes 2 records from 2 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0009799-250711103210423/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.zg4py4
title: Occurrence Download

description: A dataset containing 3999 species occurrences available in GBIF matching the query:
{
 "and" : [
 "TaxonKey is Syringa vulgaris",
 "Country is Canada",
 "HasCoordinate is true"
 ]
}

 The dataset includes 3999 records from 19 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0009800-250711103210423/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.q8gh3c
title: Occurrence Download

description: A dataset containing 28409 species occurrences available in GBIF matching the query:
{
 "TaxonKey" : [
 "is Camelina microcarpa"
 ]
}

 The dataset includes 28409 records from 601 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0009798-250711103210423/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.15468/dl.gh7wjq
title: Occurrence Download

description: A dataset containing 3936 species occurrences available in GBIF matching the query:
{
 "and" : [
 "OccurrenceStatus is Present",
 "TaxonKey is Torpedo marmorata"
 ]
}

 The dataset includes 3936 records from 112 constituent datasets; see https://api.gbif.org/v1/occurrence/download/0002240-251009101135966/datasets/export for details.
 
Data from some individual datasets included in this download may be licensed under less restrictive terms.
DOI: 10.5517/cc4bfrm
title: CCDC 129200: Experimental Crystal Structure Determination

description: Related Article: T.A.Olszak, M.J.Grabowski, A.Stepien, R.Modranka, K.Kostka|1997|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|53|1514|doi:10.1107/S010827019700735X
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc4bftp
title: CCDC 129202: Experimental Crystal Structure Determination

description: Related Article: K.Gunasekaran, D.Velmurugan, P.Murugan|1997|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|53|1512|doi:10.1107/S0108270197006987
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc4bfsn
title: CCDC 129201: Experimental Crystal Structure Determination

description: Related Article: T.A.Olszak, M.J.Grabowski, A.Stepien, R.Modranka, K.Kostka|1997|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|53|1514|doi:10.1107/S010827019700735X
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc4bg0x
title: CCDC 129208: Experimental Crystal Structure Determination

description: Related Article: M.Bolte, S.Monz|1997|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|53|9700014|doi:10.1107/S0108270197099411
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc4bg1y
title: CCDC 129209: Experimental Crystal Structure Determination

description: Related Article: J.C.Barnes, T.J.R.Weakley|1997|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|53|9700018|doi:10.1107/S0108270197099381
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc4bg2z
title: CCDC 129210: Experimental Crystal Structure Determination

description: Related Article: M.Bolte|1997|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|53|9700015|doi:10.1107/S010827019709940X
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc4bg30
title: CCDC 129211: Experimental Crystal Structure Determination

description: Related Article: J.M.Land, R.G.Baughman, C.A.Hester|1997|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|53|9700016|doi:10.1107/S0108270197099435
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc4bg41
title: CCDC 129212: Experimental Crystal Structure Determination

description: Related Article: Y.Inouye, T.Yabuuti, T.Kusumi|1997|Acta Crystallogr.,Sect.C:Cryst.Struct.Commun.|53|9700017|doi:10.1107/S0108270197099393
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3kqly
title: CCDC 106410: Experimental Crystal Structure Determination

description: Related Article: N.Wiberg, T.Passler, K.Polborn|1997|J.Organomet.Chem.|531|47|doi:10.1016/S0022-328X(96)06687-9
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc446l1
title: CCDC 123212: Experimental Crystal Structure Determination

description: Related Article: W.P.Mul, C.J.Elsevier, M.A.Vuurman, W.J.J.Smeets, A.L.Spek, J.L.de Boer|1997|J.Organomet.Chem.|532|89|doi:10.1016/S0022-328X(96)06808-8
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc446m2
title: CCDC 123213: Experimental Crystal Structure Determination

description: Related Article: W.P.Mul, C.J.Elsevier, M.A.Vuurman, W.J.J.Smeets, A.L.Spek, J.L.de Boer|1997|J.Organomet.Chem.|532|89|doi:10.1016/S0022-328X(96)06808-8
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3c7wk
title: CCDC 100188: Experimental Crystal Structure Determination

description: Related Article: K.Hegetschweiler, T.Raber, G.J.Reiss, W.Frank, M.Worle, A.Currao, R.Nesper, T.Kradolfer|1997|Angew.Chem.,Int.Ed.|36|1964|doi:10.1002/anie.199719641
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc446n3
title: CCDC 123214: Experimental Crystal Structure Determination

description: Related Article: W.P.Mul, C.J.Elsevier, M.A.Vuurman, W.J.J.Smeets, A.L.Spek, J.L.de Boer|1997|J.Organomet.Chem.|532|89|doi:10.1016/S0022-328X(96)06808-8
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3c80q
title: CCDC 100192: Experimental Crystal Structure Determination

description: Related Article: K.Hegetschweiler, T.Raber, G.J.Reiss, W.Frank, M.Worle, A.Currao, R.Nesper, T.Kradolfer|1997|Angew.Chem.,Int.Ed.|36|1964|doi:10.1002/anie.199719641
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3l4d6
title: CCDC 106807: Experimental Crystal Structure Determination

description: Related Article: W.A.Herrmann, G.M.Lobmaier, T.Priermeier, M.R.Mattner, B.Scharbert|1997|J.Mol.Catal.A:Chem.|117|455|doi:10.1016/S1381-1169(96)00381-0
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3j1yl
title: CCDC 104809: Experimental Crystal Structure Determination

description: Related Article: A.Ecker, E.Weckert, H.Schnockel|1997|Nature (London)|387|379|doi:10.1038/387379a0
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc460cp
title: CCDC 124941: Experimental Crystal Structure Determination

description: Related Article: A.Del Zotto, B.Della Ricca, E.Zangrando, P.Rigo|1997|Inorg.Chim.Acta|261|147|doi:10.1016/S0020-1693(97)05460-1
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc4472k
title: CCDC 123227: Experimental Crystal Structure Determination

description: Related Article: D.Armspach, E.C.Constable, C.E.Housecroft, M.Neuburger, M.Zehnder|1998|J.Organomet.Chem.|550|193|doi:10.1016/S0022-328X(97)00238-6
description: Related Article: D.Armspach, E.C.Constable, C.E.Housecroft, M.Neuburger, M.Zehnder|1996|Supramol.Chem.|7|97|doi:10.1080/10610279608035181
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc4473l
title: CCDC 123228: Experimental Crystal Structure Determination

description: Related Article: Shwu-Juian Lin, Tay-Ning Hong, Jo-Yu Tung, Jyh-Horung Chen|1997|Inorg.Chem.|36|3886|doi:10.1021/ic961304i
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3hnw3
title: CCDC 104435: Experimental Crystal Structure Determination

description: Related Article: P.W.Roesky|1997|Chem.Ber.|130|859|doi:10.1002/cber.19971300708
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc4474m
title: CCDC 123229: Experimental Crystal Structure Determination

description: Related Article: Shwu-Juian Lin, Tay-Ning Hong, Jo-Yu Tung, Jyh-Horung Chen|1997|Inorg.Chem.|36|3886|doi:10.1021/ic961304i
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3htds
title: CCDC 104575: Experimental Crystal Structure Determination

description: Related Article: G.Huber, N.W.Mitzel, A.Schier, H.Schmidbaur|1997|Chem.Ber.|130|1159|doi:10.1002/cber.19971300820
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3htft
title: CCDC 104576: Experimental Crystal Structure Determination

description: Related Article: G.Huber, N.W.Mitzel, A.Schier, H.Schmidbaur|1997|Chem.Ber.|130|1159|doi:10.1002/cber.19971300820
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3htgv
title: CCDC 104577: Experimental Crystal Structure Determination

description: Related Article: G.Huber, N.W.Mitzel, A.Schier, H.Schmidbaur|1997|Chem.Ber.|130|1159|doi:10.1002/cber.19971300820
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3hthw
title: CCDC 104578: Experimental Crystal Structure Determination

description: Related Article: G.Huber, N.W.Mitzel, A.Schier, H.Schmidbaur|1997|Chem.Ber.|130|1159|doi:10.1002/cber.19971300820
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3htjx
title: CCDC 104579: Experimental Crystal Structure Determination

description: Related Article: G.Huber, N.W.Mitzel, A.Schier, H.Schmidbaur|1997|Chem.Ber.|130|1159|doi:10.1002/cber.19971300820
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/cc3hvn2
title: CCDC 104614: Experimental Crystal Structure Determination

description: Related Article: J.-M.Lopez-de-Luzuriaga, A.Schier, H.Schmidbaur|1997|Chem.Ber.|130|647|doi:10.1002/cber.19971300516
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.