Genetics of the human face: Identification of large-effect single gene variants. DJM Crouch, B Winney, WP Koppen, WJ Christmas, K Hutnik, T Day, D Meena, A Boumertit, P Hysi, A Nessa, TD Spector, J Kittler, WF Bodmer.
Date: January 2018. Source: People of the British Isles, Newsletter Issue 7. Abstract: We have been studying the genetics underlying human facial features since the renewal of our PoBI grant from the Wellcome Trust in 2009. We have been doing this by going back to as many of the original volunteers as we could to […]Read More
Genetics of the human face: Identification of large-effect single gene variants. DJM Crouch, B Winney, WP Koppen, WJ Christmas, K Hutnik, T Day, D Meena, A Boumertit, P Hysi, A Nessa, TD Spector, J Kittler, WF Bodmer.
Date: October 2017 Source: PNAS | Proceedings of the National Academy of Sciences of the United States of America, doi: 10.1073/pnas.1708207114. Significance: The human face is extraordinarily variable, and the extreme similarity of the faces of identical twins indicates that most of this variability is genetically determined. We have devised an approach to increase the […]Read More
Hypermasculinised facial morphology in boys and girls with Autism Spectrum Disorder and its association with symptomatology. DW Tan, SZ Gilani, MT Maybery, A Mian, A Hunt, M Walters, AJO Whitehouse.
Date: August 2017 Source: nature.com SCiENtifiC REporTS | 7: 9348 Abstract: Elevated prenatal testosterone exposure has been associated with Autism Spectrum Disorder (ASD) and facial masculinity. By employing three-dimensional (3D) photogrammetry, the current study investigated whether prepubescent boys and girls with ASD present increased facial masculinity compared to typically-developing controls. There were two phases to […]Read More
A Phenotypically Driven Segmentation for 3-D Facial Morphology: Modularity of 3-D Faces Through Spectral Clustering. D SERO, D VANDERMEULEN, P CLAES.
Date: June 2017 Source: Biological Shape Analysis: Proceedings of the 4th International Symposium (ISBSA), pp 249-258. School of Dentistry, UCLA, USA, 19–22 June 2015. Abstract: Facial morphology is the result of mazy interactions between environmental and epigenetic factors that lead to the composition of multiple subunits integrated to function as a whole. In this work, we […]Read More
THREE-DIMENSIONAL EVALUATION OF CLASS III TREATMENT OF A 6 YEAR OLD BOY WITH THE FRÄNKEL FUNCTION REGULATOR III MODIFIED APPLIANCE. BK Đokić, A Zhurov, S Richmond, M Ovsenik.
Date: June 2017. Source: 93rd Congress of the European Orthodontic Society 2017. Montreux, Switzerland. Aim: To objectively demonstrate the changes of soft tissues after use of a Fränkel functional regulator III (FFR III) modified appliance (Farčnik, 2008) of a skeletal Class III malocclusion Subject and Methods: Clinical examination of the 6 year old boy revealed […]Read More
Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of Age. E Muggli, H Matthews, A Penington, et al.
Date: June 2017 (Online). Source: JAMA Pediatrics, doi:10.1001/jamapediatrics.2017.0778. Question: Is there an association between different levels of prenatal alcohol exposure and child craniofacial shape at 12 months? Findings: This cohort study conducted an objective and sensitive craniofacial phenotype analysis of 415 children, which showed an association between prenatal alcohol exposure and craniofacial shape at almost […]Read More
The Effects of Objective 3D Measures of Facial Shape and Symmetry on Perceptions of Facial Attractiveness. CD Hatch, GL Wehby, NL Nidey, LM Moreno Uribe.
Date: May 2017 Source: Journal of Oral and Maxillofacial Surgery. Purpose: Meeting patient desires for enhanced facial esthetics requires that providers have standardized and objective methods to measure esthetics. We evaluated the effects of objective 3-dimensional (3D) facial shape and asymmetry measurements derived from 3D facial images on perceptions of facial attractiveness. Patient and Methods: […]Read More
Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. MK Lee, JR Shaffer JR, EJ Leslie, E Orlova, JC Carlson, E Feingold, ML Marazita, SM Weinberg.
Date: April 2017. Source: PLoS One. 12(4): e0176566. Abstract: Several studies have now shown evidence of association between common genetic variants and quantitative facial traits in humans. The reported associations generally involve simple univariate measures and likely represent only a small fraction of the genetic loci influencing facial morphology. In this study, we applied factor […]Read More
A predictive model for obstructive sleep apnea and Down syndrome. BG Skotko et al.
Date: January 2017. Source: American Journal of Medical Genetics. Abstract: Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1–4% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and poorly tolerated by individuals with DS. The objective of this […]Read More
The 3D Facial Norms Database: Part 1. A Web-Based Craniofacial Anthropometric and Image Repository for the Clinical and Research Community.
Date: November 2016. Source: Cleft Palate Craniofacial Journal, 53(6) pp. e185–e197. Background: Although craniofacial sex differences have been extensively studied in humans, relatively little is known about when various dimorphic features manifest during postnatal life. Using cross-sectional data derived from the 3D Facial Norms data repository, we tested for sexual dimorphism of craniofacial soft-tissue morphology […]Read More
Genetic and Environmental Contributions to Facial Morphological Variation: A 3D Population-Based Twin Study. J Djordjevic, AI Zhurov, S Richmond, Visigen Consortium.
Date: September 2016 Source: PLoS One. 11(9):e0162250. Introduction: Facial phenotype is influenced by genes and environment; however, little is known about their relative contributions to normal facial morphology. The aim of this study was to assess the relative genetic and environmental contributions to facial morphological variation using a three-dimensional (3D) population-based approach and the classical […]Read More
Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology. JR Shaffer, E Orlova, MK Lee, EJ Leslie, ZD Raffensperger, CL Heike, more…
Date: August 2016 Source: PLOS Genetics Abstract: Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta-analyses of 20 quantitative facial measurements derived from the 3D surface […]Read More
Heritability maps of human face morphology through large-scale automated three-dimensional phenotyping. D Tsagkrasoulis, P Hysi, T Spector, G Montana.
Date: August 2016 Source: ResearchGate Abstract: The human face is a complex trait under strong genetic control, as evidenced by the striking visual similarity between twins. Nevertheless, heritability estimates of facial traits have often been surprisingly low or difficult to replicate. Furthermore, the construction of facial phenotypes that correspond to naturally perceived facial features remains […]Read More
New expert panel hoping to unlock mysteries of undiagnosed diseases.
Date: 23 Jul 2016, 10:23p Source: ABC News Australia Author: Claire Moodie Jessica’s mystery disease tackled by expert panel The family of a Perth girl is cautiously hoping a panel of experts will be able to diagnose the mystery condition which has baffled the 11-year-old’s doctors for years. 190,000 West Australians affected by rare diseases. […]Read More
3D Workflows in Orthodontics, Maxillofacial Surgery and Prosthodontics. Wicher J. van der Meer.
Date: 2016 Source: PhD Thesis Abstract: 3D workflows should result in clinical procedures that help clinicians to get better results with less effort and at lower costs. In other words, the 3D technology should make complex and difficult clinical procedures simpler and easier with reduced costs for healthcare. If 3D workflows are available with a […]Read More
Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation. SM Weinberg, EJ Leslie, JT Hecht, GL Wehby, FWB Deleyiannis, LM Moreno, K Christensen, ML Marazita.
Date: June 2016. ONLINE AHEAD OF PRINT Source: The Cleft Palate-Craniofacial Journal. Objective: Since the 1960s, multiple studies have reported a tendency toward hypertelorism in individuals with nonsyndromic orofacial clefts (OFCs). However, the association between specific cleft types and increased interorbital distance has been inconsistent. Using three-dimensional (3D) surface imaging, we tested whether different forms […]Read More
The MC1R Gene and Youthful Looks. F Liu, MA Hamer, J Deelen, JS Lall, L Jacobs, D van Heemst, PG Murray, A Wollstein, AJM de Craen, HW Uh, CQ Zeng, A Hofman, AG Uitterlinden, JJ Houwing-Duistermaat, LM Pardo, M Beekman, PE Slagboom, T Nijsten, M Kayser, DA Gunn.
Date: April 2016. Source: Current Biology, Volume 26, Issue 9, 9 May 2016, Pages 1213–1220. Highlights: • We present the first genetic associations with how old people look (perceived age) • Variants in MC1R, a pigmentation gene, significantly associated with perceived age • The MC1R association was independent of wrinkling, skin color, and sun exposure […]Read More
Infantile hemangioma status by dynamic infrared thermography: A preliminary study. SA Burkes, M Patel, DM Adams, AM Hammill, KP Eaton, RR Wickett, MO Visscher.
Date: April 2016. Source: International Journal of Dermatology. Background: Infantile hemangiomas (IH) are initially warm due to increased proliferation and perfusion then involute with apoptosis and reduced perfusion. Objective quantitative evaluation of IH treatment response is essential for improving outcomes. We applied a functional imaging method, dynamic infrared (IR) thermography, to investigate IH status versus […]Read More
Using the 3D Facial Norms Database to investigate craniofacial sexual dimorphism in healthy children, adolescents, and adults. MJ Kesterke, ZD Raffensperger, CL Heike, ML Cunningham, JT Hecht, CH Kau, NL Nidey, LM Moreno, GL Wehby, ML Marazita, and SM Weinberg.
Date: April 2016 Source: Biology of Sex Differences. Background: Although craniofacial sex differences have been extensively studied in humans, relatively little is known about when various dimorphic features manifest during postnatal life. Using cross-sectional data derived from the 3D Facial Norms data repository, we tested for sexual dimorphism of craniofacial soft-tissue morphology at different ages. […]Read More
Measuring Symmetry in Children With Unrepaired Cleft Lip: Defining a Standard for the Three-Dimensional Mid-facial Reference Plane. J Wu, C Heike, C Birgfeld, K Evans, M Maga, C Morrison, B Saltzman, L Shapiro, R Tse.
Date: March 2016 (Online ahead of print) Source: The Cleft Palate-Craniofacial Journal. Objective: Quantitative measures of facial form to evaluate treatment outcomes for cleft lip (CL) are currently limited. Computer-based analysis of three-dimensional (3D) images provides an opportunity for efficient and objective analysis. The purpose of this study was to define a computer-based standard of […]Read More
Molecular genetic analysis in 14 czech kabuki syndrome patients is confirming the utility of phenotypic scoring. J Paděrová; A Holubová; M Simandlová; A Puchmajerová; M Vlčková; M Malíková; R Pourová; S Vejvalková; M Havlovicová; M Šenkeříková; N Ptáková; J Drábová; J Geryk; A Maver; A Křepelová; M Macek.
Date: February 2016. Source: Clinical Genetics. The International Journal of Genetics, Molecular, and Personalized Medicine. Abstract: Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort of 14 Czech cases with clinical features suggestive of KS was analyzed by experienced clinical […]Read More
Facial morphology in children and adolescents with juvenile idiopathic arthritis and moderate to severe temporomandibular joint involvement. YJ Hsieh, TA Darvann, NV Hermann, P Larsen, YF Liao, J Bjoern-Joergensen, S Kreiborg.
Date: February 2016 Source: American Journal of Orthodontics & Dentofacial Orthopedics. Volume 149, Issue 2, Pages 182–191. Highlights: • We evaluated lateral facial morphology of juvenile idiopathic arthritis patients with moderate and severe TMJ involvement. • Differences in their lateral facial morphologies between unilateral and bilateral TMJ involvement were also assessed. Introduction: The aims of […]Read More
Analysis of facial muscle activation in children with autism using 3D imaging. MD Samad, JL Bobzien, JW Harrington, KM Iftekharuddin.
Date: November 2015. Source: 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM), Pages 337-342. Washington, DC. Abstract: Autism Spectrum Disorder (ASD) impairs an individual’s non-verbal skills including natural and contextual facial expressions. Such impairments may manifest as odd facial expressions (facial oddity) based on subjective evaluations of facial images. A few studies conducted on […]Read More
Analysis of Characteristic Facial Features in Patients with Hypodontia using Three-Dimensional Imaging. S Ani, J Collins, S Cunningham, C Ruff.
Date: September 2015. Source: 8th International Orthodontic Congress 2015, London. Study Aims: To analyse the facial features associated with hypodontia using 3D surface imaging and establish the effect of its severity on facial morphology. Method: A study group of 70 hypodontia patients and a control group of 40 Class I patients were recruited to allow […]Read More
Craniofacial Image Analysis. E Mercan, I Atmosukarto, J Wu, S Liang, LG Shapiro.
Date: July 2015. Source: Health Monitoring and Personalized Feedback using Multimedia Data. Springer. Abstract: Craniofacial researchers have used anthropometric measurements taken directly on the human face for research and medical practice for decades. With the advancements in 3D imaging technologies, computational methods have been developed for the diagnoses of craniofacial syndromes and the analysis of […]Read More
Comparison of the Facial Morphologies of Identical Twins Using Three-Dimensional Photography: A Case Report. Sedat Altindis, Erdem Hatunoglu, Emine Toptan.
Date: July 2015 Source: Medicine Science | International Medical Journal. Abstract: The facial morphologies of identical twins were compared using the 3dMD three-dimensional (3D) photogrammetry system. 3D images of the faces of 27-year-old identical twins were acquired and then superimposed. The differences were shown in a color histogram generated using 3dMD Vultus software. The faces […]Read More
Unilateral Cleft Lip Repair Using the Anatomical Subunit Approximation: Modifications and Analysis of Early Results in 100 Consecutive Cases. R Tse, S Lien.
Date: July 2015. Source: Plastic and Reconstructive Surgery, 136(1):119-30. Abstract: The “Anatomic Subunit Approximation” for unilateral cleft lip repair has gained acceptance, however, outcomes have not been reported since the original description. The purpose of this study is to report the experience using this technique. Methods: One hundred two consecutive patients underwent primary cleft lip […]Read More
Methods for Extraction and Analysis of Shape and Asymmetry from Craniofacial 3D Images. TA Darvann.
Date: June 24, 2015. Source: European Craniofacial Congress 2015, Gothenburg, Sweden. Summary: Being able to compare images is one of the core technologies of medical image analysis. In order to quantify change, e.g. due to growth or surgery, it is necessary to compare two or more images. And as part of population studies it is […]Read More
3D digital surface imaging for quantification of facial development and asymmetry in juvenile idiopathic arthritis. NV Hermann, TA Darvann, P Larsen, S Kreiborg.
Date: June 2015. Source: Seminars in Orthodontics, Volume 21, Issue 2, Pages 121–124. Abstract: 3D digital surface imaging (digital stereophotogrammetry or “3D photography”) is becoming an increasingly popular tool for quantification of the face, in clinical contexts as well as for research. The modality is easy to apply and is free from motion artifacts and […]Read More
A Solution to Face-to-Face Contact in Tele-Presence Systems. X Zhou, P Boulanger.
Date: June 2015 Source: 2015 12th Conference on Computer and Robot Vision (CRV) Proceedings (p 230 – 236), Halifax, Canada. Abstract: In tele-presence systems, direct face-to-face contact, is essential for emotional communication as it carries non-verbal clues. In commercial products, face-to-face contact is approximated by using either a large semi-transparent mirror to project an image […]Read More
Three-dimensional human facial morphologies as robust aging markers. W Chen, W Qian, G Wu, W Chen, B Xian, X Chen, Y Cao, CD Green, F Zhao, K Tang, JD Han.
Date: May 2015. Source: Journal of Cell Research, 25, 574-587. Abstract: Aging is associated with many complex diseases. Reliable prediction of the aging process is important for assessing the risks of aging-associated diseases. However, despite intense research, so far there is no reliable aging marker. Here we addressed this problem by examining whether human 3D […]Read More
Comparing Facial 3D Analysis With DNA Testing to Determine Zygosities of Twins. V Vuollo, M Sidlauskas, A Sidlauskas, V Harila, L Salomskiene, A Zhurov, L Holmström, P Pirttiniemi, T Heikkinen.
Date: June 2015. Source: Twin Research and Human Genetics, Volume 18, Issue 03, pp 306-313. Abstract: The aim of this study was to compare facial 3D analysis to DNA testing in twin zygosity determinations. Facial 3D images of 106 pairs of young adult Lithuanian twins were taken with a stereophotogrammetric device (3dMD, Atlanta, Georgia) and […]Read More
Validation of a new method to measure facial soft tissue movements. CA Trotman, T Lu, V Sirianna.
Date: May 2015. Source: International Association for Dental Research, Boston, USA. Poster: #4342. Authors: CA Trotman, T Lu, V Sirianna. School of Dentistry, University of North Carolina at Chapel Hill, USA.Read More
Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures. Stefanie Kung, M Walters, P Claes, P LeSouef, J Goldblatt, A Martin, S Balasubramaniam, G Baynam.
Date: March 2015. Source: JIMD Reports 2015, Springer. Abstract: There is a pattern of progressive facial dysmorphology in mucopolysaccharidosis type I (MPS I). Advances in 3D facial imaging have facilitated the development of tools, including dysmorphometrics, to objectively and precisely detect these facial phenotypes. Therefore, we investigated the application of dysmorphometrics as a noninvasive therapy-monitoring […]Read More
Prenatal sex hormones, digit ratio, and face shape in adult males. SM Weinberg, TE Parsons, ZD Raffensperger.
Date: February 2015. Source: Orthodontics & Craniofacial Research, 18(1):21-6. Objectives: Several reports have demonstrated a relationship between second to fourth digit ratio (2D:4D) and facial shape, suggesting that prenatal sex hormones play a role in the development of the craniofacial complex. Using 3D surface imaging and geometric morphometrics, we test the hypothesis that decreased digit […]Read More
Regional facial asymmetries in unilateral orofacial clefts. MA Kuijpers, DJ Desmedt, RM Nada, SJ Bergé, PS Fudalej, TJJ Maal.
Date: February 2015. Source: The European Journal of Orthodontics. Objectives: Assess facial asymmetry in subjects with unilateral cleft lip (UCL), unilateral cleft lip and alveolus (UCLA), and unilateral cleft lip, alveolus, and palate (UCLP), and to evaluate which area of the face is most asymmetrical. Methods: Standardized three-dimensional facial images of 58 patients (9 UCL, […]Read More
Monobloc Le Fort III Distraction Osteogenesis for Correction of Severe Fronto-orbital and Midface Hypoplasia in Pediatric Crouzon Syndrome. F Hariri, LK Cheung, ZA Rahman, V Mathaneswaran, D Ganesan.
Date: February 2015. Source: The Cleft Palate-Craniofacial Journal. Abstract: In severe syndromic craniosynostosis, distraction osteogenesis (DO) provides superior segmental advancement and allows progressive clinical monitoring to ensure that adequate skeletal expansion is achieved. We report two cases of Crouzon syndrome involving a 3-year-old boy and a 4-year-old girl, who were both treated with monobloc Le […]Read More
Does your FACE give away signs of autism? Researchers develop new 3D scanning software to check for signs in children. Daily Mail.
Date: January 16, 2015. Source: Daily Mail.com. Author: Mark Prigg. Highlights: Researchers developed special software to look for signs of the disorder Say their work could lead to a low cost screening tool for young children Could also help pinpoint genetic causes of the disorderRead More
Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach. D Kornreich, AA Mitchell, BD Webb, I Cristian, EW Jabs.
Date: December 2014. Source: The Cleft Palate-Craniofacial Journal. Objective: Comparison of global versus landmark analyses of facial asymmetry using three-dimensional photogrammetry to establish a precise method for evaluating facial asymmetry. Design: The landmark-based approach utilized anthropometric data points. Our global approach involved registration of mirror images, independent of a midplane, to calculate a root mean […]Read More
The Latest Applications of Temporal-3D (4D) to Support Clinical Initiatives. CR Lane.
Date: October 2014. Source: 3D Body Scanning Conference 2014, Lugano, Switzerland. Abstract: In 2011 3dMD and the University of North Carolina at Chapel Hill, School of Dentistry, were awarded a ground-breaking US NIH Grant (STTR Grant No. 2R42DE019742-02) to study the facial dynamics of children who had received corrective treatment for facial conditions. The recruitment […]Read More
Establishment of Reference Frame for Sequential Facial Biometrics. L Zou, P Hao, M McCarthy
Date: October 2014. Source: 3D Body Scanning Conference 2014, Lugano, Switzerland. Abstract: Facial biometrics as an objective, accurate, living parts measurement methodology, is widely used in assisting diagnose and treatment plan within the practice of medicine and dentistry. It is particularly popular that the quantification of changes before and after a clinical intervention. However the […]Read More
Biomedical visual data analysis to build an intelligent diagnostic decision support system in medical genetics. K Kuru, M Niranjan, Y Tunca, E Osvank, T Azim.
Date: October 2014. Source: Artificial Intelligence in Medicine, 62(2):105-18. Background: In general, medical geneticists aim to pre-diagnose underlying syndromes based on facial features before performing cytological or molecular analyses where a genotype–phenotype interrelation is possible. However, determining correct genotype–phenotype interrelationships among many syndromes is tedious and labor-intensive, especially for extremely rare syndromes. Thus, a computer-aided […]Read More
Learning to Rank the Severity of Unrepaired Cleft Lip Nasal Deformity on 3D Mesh Data. J Wu, R Tse, LG Shapiro.
Date: August 2014. Source: Int. Conference on Pattern Recognition (ICPR) 2014, Stockholm, Sweden. © IEEE. Pages 460-464. Abstract: Cleft lip is a birth defect that results in deformity of the upper lip and nose. Its severity is widely variable and the results of treatment are influenced by the initial deformity. Objective assessment of severity would […]Read More
Quantitative Evaluation of the Facial Morphology of a Tolteca Figurine from Mexico using Geometric Morphometric Approaches. JM Starbuck.
Date: June 2014. Source: International Journal of Morphology. Volume 32, Number 2, pp 499–509. Summary: Morphometric approaches can be combined with 2D or 3D imaging to quantitatively evaluate craniofacial medical conditions depicted in material culture and to learn more about the culture being studied. A terra-cotta figurine (circa 500 A.D.) from the Tolteca culture of […]Read More
Exploratory genotype–phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate. SF Miller, SM Weinberg, NL Nidey, DK Defay, ML Marazita, GL Wehby, LM Moreno Uribe.
Date: June 2014 Source: Journal of Anatomy, Volume 224, Issue 6, pp 688-709. Abstract: Family relatives of children with nonsyndromic cleft lip with or without cleft palate (NSCL/P) who presumably carry a genetic risk yet do not manifest overt oral clefts, often present with distinct facial morphology of unknown genetic etiology. This study investigates distinct […]Read More
Reliability of Nasolabial Anthropometric Measures Using Three-Dimensional Stereophotogrammetry in Infants with Unrepaired Unilateral Cleft Lip. R Tse, L Booth, K Keys, B Saltzman, E Stuhaug, H Kapadia, C Heike.
Date: April 2014 Source: Plastic & Reconstructive Surgery, Journal of the American Society of Plastic Surgery, Volume 133, Issue 4, p 530e–542e. Background: Surgical and orthodontic treatment of unilateral cleft lip +/– palate can produce dramatic changes in nasolabial form; however, the lack of ideal methods with which to objectively document three-dimensional form limits the […]Read More
Modeling 3D Facial Shape from DNA. P Claes, DK Liberton, K Daniels, KM Rosana, EE Quillen, LN Pearson, B McEvoy, M Bauchet, AA Zaidi, W Yao, H Tang, GS Barsh, DM Absher, MD Shriver.
Date: March 2014 Source: PLOS Genetics. Abstract: Human facial diversity is substantial, complex, and largely scientifically unexplained. We used spatially dense quasi-landmarks to measure face shape in population samples with mixed West African and European ancestry from three locations (United States, Brazil, and Cape Verde). Using bootstrapped response-based imputation modeling (BRIM), we uncover the relationships […]Read More
Digital imaging analysis to assess scar phenotype. BJ Smith, N Nidey, SF Miller, LMM Uribe, CL Baum, GS Hamilton, GL Wehby, M Dunnwald.
Date: March-April 2014. Source: Wound Repair and Regeneration, Volume 22, Issue 2, pages 228–238. Abstract: In order to understand the link between the genetic background of patients and wound clinical outcomes, it is critical to have a reliable method to assess the phenotypic characteristics of healed wounds. In this study, we present a novel imaging […]Read More
Autism: Comparative Genomics and Interactomics. C Barth, N Bishop.
Date: January 2014 Source: Comprehensive Guide to Autism, pp 2853–2880. New York: Springer, 2014. Abstract: Many common human neurological disorders, including autism spectrum disorder (ASD), epilepsy, Alzheimer’s disease, attention-deficit/hyperactivity disorder (ADHD), and schizophrenia, have complex genetics and inheritance patterns. While understanding the molecular mechanisms of single-gene disorders is comparatively straightforward, complex diseases are, by their […]Read More
Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration. S Peng, J Tan, S Hu, H Zhou, J Guo, L Jin, K Tang.
Date: December 2013. Source: PLoS Computational Biology, Public Library of Science. Abstract: Human facial morphology is a combination of many complex traits. Little is known about the genetic basis of common facial morphological variation. Existing association studies have largely used simple landmark-distances as surrogates for the complex morphological phenotypes of the face. However, this can […]Read More