cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.25550/vd6
title: Gene expression RNA-Seq - mouse E14.5 Wild Type Posterior Oral Palate

description: This data set contains FASTQ RNA-Seq data for the Posterior Oral region of the palatal shelves at the E14.5 time-point in the developing mouse. Wild-type CD-1 outbred mice were used in this experiment. For each different region: Anterior Medial Palate - From the anterior region of the palatal shelf (closer to the front of the face). Also closer to the center of the palatal shelves (closer to the Medial-Edge Epithelia). Posterior Medial Palate - From the posterior region of the palatal shelf (closer to the hind-brain). Also located closer to the center of the palatal shelves (closer to the MEE). Anterior Lateral Palate - From the anterior region of the palatal shelf (closer to the front of the face). The lateral region located further from the MEE. Posterior Lateral Palate - From the posterior region of the palatal shelf (closer to the hind-brain). The lateral region located further from the MEE. Anterior Nasal Palate - From the anterior region of the palatal shelf (closer to the front of the face). The nasal half of the palate located closer to the nose. Posterior Nasal Palate - From the posterior region of the palatal shelf (closer to the hind-brain). The nasal half of the palate located closer to the nose. Anterior Oral Palate - From the anterior region of the palatal shelf (closer to the front of the face). The oral half of the palate located closer to the tongue. Posterior Oral Palate - From the posterior region of the palatal shelf (closer to the hind-brain). The oral half of the palate located closer to the tongue. There are 3 replicates for each region collected (four for the ant. nasal region). Regions were isolated using Laser Capture Microdissection with the Arcturus Veritas instrument, then RNA-purified and processed for RNA Seq. The RNA-Seq was performed using 50 bp single-end reads (at least 20 million reads). Sequencing was performed on the Illumina HiSeq 2500.
DOI: 10.25550/vtr
title: Micro-CT images of adult mouse skulls, Collaborative Cross A/J x NOD

description: The dataset consists of a set of images for 1 mouse with one parent from the A/J strain, and the other parent from the NOD strain. For each mouse we provide an image file in .aim format, a .txt file with the image data, and a .hx file. Morphometrics will be added for the data as measurements are completed.
DOI: 10.25550/tka
title: microCT - Bone Tissue of K14-Cre;Tgfbr2flfl mouse at P0

description: Mouse ID: JI227 This dataset includes microCT scans of the skull of a K14-Cre;Tgfbr2flfl mouse at P0. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/tqj
title: microCT - Skull bones of TGFBR2fl/fl mouse at E18.5

description: This dataset contains microCT scans of skull bones of 3 mice at stage E18.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/trj
title: Skull vault formation in individual WT AB Fish

description: An individual fish was imaged successively from 12-42 dpf by confocal microscopy, during the period of induction and growth of the frontal and parietal bones. The fish was transgenic for col1a1a:gfp, marking chondrocytes, and for sp7:mcherry, marking osteoblasts.
DOI: 10.25550/txr
title: microCT - Soft Tissue of an Msx1-/- mouse at E14.5

description: Mouse ID: AH285 This dataset includes microCT scans of the skull of an Msx1-/- mouse at E14.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/v2w
title: microCT - Soft Tissue of a K14-Cre;Tgfbr2fl/fl mouse at P0

description: Mouse ID: JI227 This dataset includes microCT scans of the skull of a K14-Cre;Tgfbr2fl/fl mouse at P0. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/v4y
title: microCT - Soft Tissue of a Tgfbr2fl/fl; Alk5fl/fl mouse at E15.5

description: Mouse ID: JI322 This dataset includes microCT scans of the skull of a Tgfbr2fl/fl; Alk5fl/fl mouse at E15.5 . The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vej
title: Gene expression microarray - mouse E10.5 Flanking Neural Epithelium

description: Gene expression microarray using tissue obtained by laser capture microdissection (LCM) from the Flanking Neural Epithelium of mouse embryos at E10.5.
DOI: 10.25550/vmw
title: microCT - Soft Tissue of a Fgfr2fl/fl Control mouse at E15.5

description: Mouse ID: ZZ355 This dataset includes microCT scans of the skull of a Fgfr2fl/fl Control mouse at E15.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/1-70ny
title: Activity of predicted human neural crest enhancer near Zfhx4 in E13.5 transgenic mouse embryos– Tg(hg38_chr8:76968304-76969095::LacZ).

description: Tg(hg38_chr8:76968304-76969095::LacZ) demonstrates no reproducible enhancer activity at E13.5.
DOI: 10.25550/twj
title: microCT - Soft Tissue of Tgfbr2 control mouse at E16.5

description: Mouse ID: JI193 This dataset includes microCT scans of the skull of a Tgfbr2 Control at E16.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/v1r
title: microCT - Soft Tissue of C57BL6J Mouse at E18.5

description: Mouse ID: JI234 This dataset includes 1 microCT scan of the skull of a C57BL6J mouse at E18.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/v7t
title: microCT - Bone Tissue of an Msx1-/- mouse at E16.5

description: Mouse ID: AH257 This dataset includes microCT scans of the skull of an Msx1-/- mouse at E16.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vb6
title: Skull vault formation in individual Chi-/+ fish

description: An individual fish was imaged successively from 14-36 dpf by confocal microscopy, during the period of induction and growth of the frontal and parietal bones. The fish was transgenic for col1a1a:gfp, marking chondrocytes, and for sp7:mcherry, marking osteoblasts. The fish was a heterozygous mutant for Chihuahua, and mutation in the col1a1a gene that models human Osteogenesis Imperfecta.
DOI: 10.25550/vca
title: microCT - Soft Tissue of Wnt1-Cre;Tgfbr2flf;Alk5fl+ mouse at E15.5

description: This dataset includes 1 microCT scan of the skull of an Wnt1-Cre; Tgfbr2flfl; Alk5fl+ mouse mouse at E15.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vgt
title: Gene expression microarray - mouse E9.5 Maxillary Arch

description: Gene expression microarray using tissue obtained by laser capture microdissection (LCM) from the Maxillary Arch of mouse embryos at E9.5
DOI: 10.25550/vwg
title: Wild type zebrafish developmental series – WIK strain (Ag stained)

description: MicroCT imaging of skull development in the zebrafish WIK strain contrast stained
DOI: 10.25550/vxa
title: collagen1a2 (col1a2) mutant zebrafish

description: MicroCT imaging of col1a2 mutant zebrafish
DOI: 10.25550/vxp
title: Transgenic Mouse Enhancer OPT Assays - hs1626

description: ChIP-seq, RNA-seq and transgenic assays to identify non-coding regulatory elements (enhancers) active during craniofacial development. Follow this [link](http://enhancer.lbl.gov/cgi-bin/imagedb3.pl?form=presentation&show=1&experiment_id=1626&organism_id=1) to see the associated data in the VISTA browser.
DOI: 10.25550/1-3sw2
title: FB0064_Male with Congenital craniosynostosis_Candidate Gene: FREM2

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. This is restricted-access human data. To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Eric Liao of Massachusetts General Hospital. Phenotype -Bilateral cleft lip and palate - Hemophylia
DOI: 10.25550/1-50e2
title: Dent2: Caries in Permanent Dentition

description: [**Link to project pages of Dent2: Caries in Permanent Dentition**](http://www.facebase.org/hgai/DENT2.html) dbGaP Study Accession: [phs000095.v3.p1](https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000095.v3.p1) Principal Investigator: [Mary Marazita](https://www.dental.pitt.edu/person/mary-l-marazita), University of Pittsburgh School of Dental Medicine, Pittsburgh, PA, USA Funding Sources: U01-DE018903, Dental Caries: Whole Genome Association and Gene x Environment Studies. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R01-DE014899, Factors contributing to oral health disparities in Appalachia. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R03-DE021425, Statistical Modeling and Genetic Epidemiology of Dental Caries in GWAS Analysis, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R01-DE09551, Longitudinal study of fluoride, diet, caries, and fluorosis. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA R01-DE12101, Fluoride and other factors in childhood and adolescent bone development. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA Dental caries is one of the most common diseases worldwide. In the US, the prevalence in adults is approximately 90% (Beltran-Aguilar et al., 2005), and in some high-risk populations, the prevalence is even higher. Treatment of dental caries consumes significant resources each year, and untreated caries lesions can lead to pain, tooth loss, and oral infection, or other co-morbidities. Cariogenesis is affected my numerous environmental, behavioral, and genetic factors, including dietary behaviors, bacterial flora, fluoride exposure, salivary factors, tooth morphology, etc. (Hunter, 1988; Anderson, 2002). This study of dental caries focuses on caries in permanent dentition in adults. Five independent samples were included from the Center for Oral Health Research in Appalachia (COHRA), the University of Pittsburgh School of Dental Medicine Dental Registry and DNA Repository (DRDR1, DRDR2), the Atherosclerosis Risk in Communities (ARIC) Study, and the Health Professionals Follow-up Study (HPFS). Detailed information of each study can be found in in Wang et al. [[Genome-wide association scan of dental caries in the permanent dentition](https://www.ncbi.nlm.nih.gov/pubmed/23259602), BMC Oral Health 12:57, 2012]. Click [here](/hgai/DENT2.html) to access the data and results for this dataset.
DOI: 10.25550/2bap
title: FB0123_10mo girl with brain stem compression, multiple skeletal anomalies, cranioal bone anomalies, clinodactyly, cleft palate, unusual skull configuration (only 3 bones), stenosis of ear canal

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. **This is restricted-access human data.** To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Joan Stoler of Boston Children’s Hospital.
DOI: 10.25550/tjr
title: microCT - Soft Tissue of C57BL6 mouse at E15.5

description: Mouse ID: JI186 This dataset includes microCT scans of the skull of a C57BL6 mouse at E15.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/tmw
title: microCT - Soft Tissue of an Msx1-/- mouse at E13.5

description: Mouse ID: AH278 This dataset includes microCT scans of the skull of an Msx1-/- mouse at E13.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/tvc
title: microCT - Soft Tissue of Tgfbr2 Control mouse at E16.5

description: Mouse ID: JI231 This dataset includes microCT scans of the skull of a Tgfbr2 Control mouse at E16.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/v3w
title: microCT - Soft Tissue of C57BL6J Mouse at E17.5

description: Mouse ID: JI233 This dataset includes 1 microCT scan of the skull of a C57BL6J mouse at E17.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/v5m
title: microCT - Soft Tissue of Myf5-Cre; Smad4 at E16.5

description: Mouse ID: DH297 This dataset includes microCT scans of the skulls of a Myf5-Cre;Smad4 mouse at E16.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/va2
title: microCT - Bone Tissue of K14-Cre;Tgfbr2flfl mouse at E18.5

description: Mouse ID: JI209 This dataset includes 1 microCT scan of the skull of a K14-Cre;Tgfbr2fl/fl mouse at E18.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vnw
title: microCT - Skull of Wnt1-Cre;Tgfbr2fl/fl;Alk5fl/+ mouse at E18.5

description: This dataset includes 1 microCT scan of the skull of a Wnt1-Cre;Tgfbr2fl/fl;Alk5fl/+ mouse at stage E18.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vy6
title: Micro-CT images of adult mouse skulls, Collaborative Cross 129S1 x PWK

description: The dataset consists of a set of images for 11 mice with one parent from the 129S1 strain, and the other from the PWK strain. For each mouse we provide an image file in .aim format, a .txt file with the image data, and a .hx file. Morphometrics will be added for the data as measurements are completed.
DOI: 10.25550/1-3svt
title: FB0043_3 male cousins with natal teeth and anodontia_Candidate Gene: GRHL3

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. This is restricted-access human data. To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). Phenotype - Natal teeth and anodontia This case was brought to the attention of FaceBase from Dr. John Graham from Cedars-Sinai Hospital.
DOI: 10.25550/1-3v7a
title: FB0011_9 year old female with single central maxillary incisor_Candidate Gene: SMARC4

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. This is restricted-access human data. To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Catherine Nowak of Boston Children's Hospital. Phenotype - Nasal-maxillary hypoplasia - Facial asymmetry - Hypoplasia of lacrimal ducts - Hypoplasia of corpus callosum
DOI: 10.25550/1-415c
title: FB0036_21mo male with midline cleft lip, spheno-ethmoidal meningocele, micropthalmia_Candidate Gene: KLF8

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. **This is restricted-access human data.** To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Joan Stoler of Boston Children’s Hospital. Phenotype: - midline cleft lip - spheno-ethmoidal meningocele - micropthalmia
DOI: 10.25550/25j0
title: FB0044_ 15 month old male with bilateral oblique facial cleft_Candidate Gene: ALX1

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. **This is restricted-access human data.** To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/).
DOI: 10.25550/26vc
title: FB0058_20mo male with VACTERL Kyphoscoliosis Tracheosophageal fistula,distal arthrogryposis crumpled soft ears osteopenia_Candidate Gene: FBN2

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. **This is restricted-access human data.** To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Pedro Sanchez of Children's Hospital Los Angeles. Phenotype: - 20 month old ex 31 week premie triplet (fraternal) - VACTERL Kyphoscoliosis, vascular ring & aortic root z+2.5), - Tracheosophageal fistula, - Distal arthrogryposis - Crumpled soft ears - Osteopenia, mild bowing of his femurs - Sagittal craniosynostosis - Robin Sequence (high palate) - Normal eye exam - Spinal cord syrinx - Liver enzymes (high ALT, AST nL GGT) - Normal liver biopsy
DOI: 10.25550/2ba6
title: FB0109_Male with Robin sequence, cleft palate, midface hypoplasia, round almond-shaped eyes, negative CMA, positive family Hx_Candidate Gene: HOXB2

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. **This is restricted-access human data.** To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Pedro Sanchez of Children's Hospital Lost Angeles.
DOI: 10.25550/tpp
title: FB0021_14yo female with clinodactyly, camptodactyly of left index finger, delayed closure of the fontanel_Candiate Gene: DCHS1

description: The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor. This is restricted-access human data. To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/). This case was brought to the attention of FaceBase from Dr. Joan Stoler of Boston Children's Hospital. Phenotype - dysmorphic facial features - clinodactyly - camptodactyly of left index finger
DOI: 10.25550/tv4
title: microCT - Bone Tissue of a Tgfbr2fl/fl control mouse at E17.5

description: Mouse ID: JI249 This dataset includes microCT scans of the skull of a Tgfbr2fl/fl control mouse at E17.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/v8m
title: microCT - Bone Tissue of Smad4 control mouse at E17.5

description: Mouse ID: JF252 This dataset includes 1 microCT scan of the skull of a Smad4 control mouse at E17.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/v9j
title: Gene expression microarray - mouse E10.5 various tissues

description: Gene expression microarrays using tissue obtained by Laser Capture Microdissection from mice at E10.5. The data set includes 4 .CEL files: one each for the lateral nasal eminence (LNE), mandibular arch (MA), olfactory pit (OP), neuroepithelium (NE). See links to Genome Browser in the Additional Information section. This track represents 31 independent samples of different regions of developing craniofacial structures obtained from embryonic day 10.5 and 11.5 mouse embryos.
DOI: 10.25550/vb0
title: microCT - Soft Tissue of Fgfr2 Control Mouse at P0

description: This dataset includes 1 microCT scan of the skull of an Fgfr2 Control mouse at P0. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vhc
title: microCT - Soft Tissue of a C57BL6J mouse at E13.5

description: Mouse ID: JI208 This dataset includes a microCT scan of the skull of a C57BL6J mouse at E13.5. The scan is in NiFTI format. See Help section for a list of free applications to view files in NiFTI format
DOI: 10.25550/vhj
title: Micro-CT images of adult mouse skulls, Collaborative Cross A/J x NOD

description: The dataset consists of a set of images for 1 mouse with one parent from the A/J strain, and the other parent from the NOD strain. For each mouse we provide an image file in .aim format, a .txt file with the image data, and a .hx file. Morphometrics will be added for the data as measurements are completed.