Bibliography / References (updated as of July 2024) Case Studies


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Khongthon N, Theeraviwatwong M, Wichajarn K, Rojnueangnit K.Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians. Appl Clin Genet. 2024;17:107-115

Roalf, D.R., McDonald-McGinn, D.M., Jee, J. et al.Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders. Neurodevelop Disord 16, 35 (2024).

Hennocq, Q., Willems, M., Amiel, J. et al. Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome. Sci Rep 14, 2330 (2024).

Bostanova, F.; Levchenko, O.; Sharova, M.; Semenova, N. Clinical Case of Mild Tatton–Brown–Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene. Clin. Pract. 2024, 14, 928-933.

Kušíková, K.; Šoltýsová, A.; Ficek, A.; Feichtinger, R.G.; Mayr, J.A.; Škopková, M.; Gašperíková, D.; Kolníková, M.; Ornig, K.; Kalev, O.; et al. Prognostic Value of Genotype–Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. Genes 2023, 14, 2174.

Gnazzo M, Pascolini G, Parlapiano G, Petrizzelli F, Perrino D, Porco L, Bartuli A, Novelli A, Baban A. (2024) Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant Clin Genet.doi: 10.1111/cge.14531.

Reiter AMV, Pantel JT, Danyel M, Horn D, Ott C, Mensah MA (2024) Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study J Med Internet Res 2024;26:e42904 doi: 10.2196/42904

Hennocq, Q., Willems, M., Amiel, J. et al. (2024) Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome. Sci Rep 14, 2330 (2024).

Eroğul, Özgür & Elmas, Muhsin & Demi̇r, Ayça Nur & Mat, Emrah. (2024) Evaluation of ocular and genetic findings in patients with Neurofibromatosis Type 1 Health Sciences Quarterly. 4. 61-72. 10.26900/hsq.2142.

Carrer, A., Romaniello, M. G., Calderara, M. L., et al. (2023).Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives. American Journal of Medical Genetics Part A, 1–6.

Kušíková K, Šoltýsová A, et al. (2023) Prognostic Value of Genotype–Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. Genes. 2023; 14(12):2174.

Carrer, A., Romaniello, M. G., Calderara, M. L., et al. (2023).Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives. American Journal of Medical Genetics Part A, 1–6.

Kasole Lubala T, Kayembe-Kitenge T, Mubungu G, et al (2023),Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects, European Journal of Medical Genetics, Volume 66, Issue 9, 2023.

Wadman E, Fernandes E, Muss C, et al (2023) A novel syndrome associated with prenatal fentanyl exposure Genetics in Medicine Open, Volume 1, Issue 1,2023,100834,ISSN 2949-7744

Kim JS, Ko H, Woo H, Kim WS. Lessons Learned from the Point-of-Care Use of a Facial Analysis Technology. Ann Child Neurol 2023 September.

Feng, B., Li, X., Zhang, Q. et al. Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients. Orphanet J Rare Dis 18, 284 (2023).

Obara K, Abe E, Toyoshima I. Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7. Cureus. 2023 Jan 5;15(1):e33379. doi: 10.7759/cureus.33379. PMID: 36628390; PMCID: PMC9822525

Lesmann, Hellen, Klinkhammer, Hannah and M. Krawitz, Prof. Dr. med. Dipl. Phys. Peter. The future role of facial image analysis in ACMG classification guidelines Medizinische Genetik, vol. 35, no. 2, 2023, pp. 115-121.

Echeverry-Quiceno, L.M., Candelo, E., Gómez, E. et al. Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population. Sci Rep 13, 6869 (2023).

Ciancia, S., Goedegebuure, W.J., Grootjen, L.N. et al. Computer-aided facial analysis as a tool to identify patients with Silver–Russell syndrome and Prader–Willi syndrome.Eur J Pediatr (2023).

Pascolini, G., Gaudioso, F., Baldi, M. et al. Facial clues to the photosensitive trichothiodystrophy phenotype in childhood. J Hum Genet 68, 437–443 (2023).

Chorin O, Hirsch Y, Rock R, et al (2022) Vici syndrome in Israel: Clinical and molecular insights. Front. Genet. 13:991721. doi: 10.3389/fgene.2022.991721

Valverde de Morales, H. G., Wang, H.-L. V., Garber, K., Cheng, X., Corces, V. G., & Li, H. (2022). Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review. American Journal of Medical Genetics Part A, 1– 12.

Marwaha, A., Costain, G., Cytrynbaum, C., Mendoza-Londono, R., Chad, L., Awamleh, Z., Chater-Diehl, E., Choufani, S., & Weksberg, R. (2022). The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder. American Journal of Medical Genetics Part A, 188A: 1368– 1375

Cousin, M.A., Veale, E.L., Dsouza, N.R. et al. (2022) Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med 14, 62.

Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, et al. (2022) Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes. 2022; 13(1):154.

Schoeman, L., Honey, E.M., Malherbe, H. et al.(2022) Parents’ perspectives on the use of children’s facial images for research and diagnosis: a survey. J Community Genet 13, 641–654

Guo, L., Park, J., Yi, E. et al. (2022) KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients. Eur J Hum Genet (2022).

Park S, Kim J, Song T-Y and Jang D-H (2022) Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome. Front. Genet. 13:903199. doi: 10.3389/fgene.2022.903199

Pascolini G, Calvani M, Grannatico P (2022) First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromes Ital J Pediatr. 2022 Jun 13;48(1):91. doi: 10.1186/s13052-022-01283-w. PMID: 35698205; PMCID: PMC9195312

Qiang J, Wu D, Du H, Zhu H, Chen S, Pan H. (2022) Review on Facial-Recognition-Based Applications in Disease Diagnosis. Bioengineering. 2022; 9(7):273.

Mensah MA., Ott C., Horn D., Pantel JT. (2022) A machine learning-based screening tool for genetic syndromes in children. The Lancet Digital Health, volume 4, issue 5, E295, May 01, 2022.

Merico P., Huang-Doran I., Al-Naqeb D., et al. (2022) Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps European Society of Endocrinology, Volume 186, Issue 5.

Elmas M., Gogus B. (2022). The road from mutation to next generation phenotyping: contribution of deep learning technology (Face2Gene) to diagnosis neurofibromatosis type 1. The European Research Journal, Volume 8, Issue 2, 145 – 154.

Riedhammer K. M., Burgemeister AL., Cantagrel V., et al. (2022) Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Hum Mol Genet. 2022 May 5.

Asif M., Kaygusuz E., Shinawi M., et al. (2022) De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. HGG Advances, Volume 3, Issue 3.

Li X., Yao R., Chang G., et al. (2022) Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature. The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 4, April 2022, Pages 972–985,

Micale L., Morlino S., Carbone A., et al. (2022) Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement. Genet Med. 2022 Feb; 24(2):439-453.

Nagy D., Verheyen S., Wigby KM., et al. (2022) Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes, volume 13, issue 1, page 154.

Hsieh, TC., Bar-Haim, A., Moosa, S. et al. (2022) GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nat Genet.

Rouxel, F., Yauy, K., Boursier, G. et al. (2021) Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt. Eur J Hum Genet

Sánchez Soler MJ, López-González V, et al. (2021) Risk of mayor and minor birth defects in children conceived by assisted reproductive technology (IVF/ICSI): A prospective controlled cohort study Anales de Pediatría, Volume 95, Issue 6, December 2021, Pages 448-458

Daykin E., Fleischer N., Abdelwahab M, Hassib N., Schiffmann R., Ryan E., Sidransky E. (2021). Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3, Molecular Genetics and Metabolism, ISSN 1096-7192,

Priol A-C, Denis L, Boulanger G, Thépaut M, data-geoffray M-M, Tordjman S. (2021) Detection of Morphological Abnormalities in Schizophrenia: An Important Step to Identify Associated Genetic Disorders or Etiologic Subtypes. International Journal of Molecular Sciences. 2021; 22(17):9464.

Latorre-Pellicer, A., Ascaso, Á., et al. (2021) Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11. Molecular Genetics & Genomic Medicine, 00, e1826.

Liehr, T., Fleischer, N., Al-Rikabi, A. (2021). Next-generation phenotyping in cat-eye syndrome based on computer-aided facial dysmorphology analysis of normal photographs. Molecular Genetics & Genomic Medicine.

Mak, B. C., Sanchez Russo, R., Mulle, J. G. et al. (2021). Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology. American Journal of Medical Genetics Part A Part A, 1– 8.

Javitt, M.J., Vanner, E.A., Grajewski, A.L. et al. (2021) Evaluation of a computer-based facial dysmorphology analysis algorithm (Face2Gene) using standardized textbook photos. Eye.

Marwaha, A, Chitayat, D, Meyn, MS, Mendoza‐Londono, R, Chad, L. (2021) The point‐of‐care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning. Am J Med Genet Part A. 2021; 1– 8.

Körber, L., Schneider, H., et al. (2021) No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia. Orphanet J Rare Dis 16, 98 (2021).

Zarate, Y.A., Bosanko, K.A., Thomas, M.A. et al. (2021) Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involvingSATB2. Clinical Genetics.

Brunet, T., McWalter, K., Mayerhanser, K. et al (2020) Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genet Med (2020).

Pantel JT, Hajjir N, Danyel M, Elsner J, Abad-Perez AT, Hansen P, Mundlos S, Spielmann M, Horn D, Ott CE, Mensah MA (2020) Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study. J Med Internet Res 2020;22(10):e19263 DOI:10.2196/19263

Stamberger, H., Hammer, T.B., Gardella, E. et al. (2020) NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Genet Med (2020).

Bezuidenhout, H, Bayley, S, Smit, L, et al. (2020) Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients. Am J Med Genet Part A. 2020; 182A: 2230– 2235.

Tekendo‐Ngongang, C, Owosela, B, Fleischer, N, et al. (2020) Rubinstein–Taybi syndrome in diverse populations. Am J Med Genet Part A. 2020; 1– 12.

Li, X, Yao, R, Tan, X, et al. (2020) Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients . Clin Genet. 2019; 96: 290– 299.

Gomez D, Bird L.M , Fleischer N, Abdul-Rahman O.A.(2020) Differentiating Molecular Etiologies of Angelman Syndrome Through Facial Phenotyping Using Deep Learning. Am J Med Genet Part A. 2020; DOI:10.1002/ajmg.a.61720

Tekendo‐Ngongang, C, Kruszka, P. (2020) Noonan syndrome on the African Continent. Birth Defects Research. 2020; 112: 718– 724.

Gonzalez Garcia et al. (2020) A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange–like presentation. Cold Spring Harb Mol Case Stud 6: a005322

Pascolini, G., Agolini, E., Fleischer, N. et al.(2020) Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication. Neurol Sci (2020).

Tripon F.; Bogliș, A.; Micheu, C.; Streață, I.; Bănescu, C. (2020) Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient. Genes 2020, 11, 596.

Agbolade, O.; Nazri, A.; Yaakob, R.; Ghani, A.A.; Cheah, Y.K. (2020) Down Syndrome Face Recognition: A Review. Symmetry 2020, 12, 1182.

Pode-Shakked B., Finezilber Y, Levi Y., Putter S., Fleischer N., Greenbaum L., Raas-Rothschild A.(2020) Shared facial phenotype of patients with Mucolipidosis type IV: a clinical observation reaffirmed by next generation phenotyping. Eu Journal of Medical Genettics:EJMG_2020_5_R1

Rethanavelu, K, Fung, JLF, Chau, JFT, et al. (2020) Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome. Am J Med Genet Part A. 2020; 182A: 279– 288.

Pascolini, G, Agolini, E, Fleischer, N, et al.(2020) A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations. Am J Med Genet Part A. 2020; 1– 5.

Cappuccio, G., Sayou, C., Tanno, P.L. et al.(2020) De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome. Genet Med (2020).

Kumps, C.; Campos-Xavier, B.; Hilhorst-Hofstee, Y.; Marcelis, C.; Kraenzlin, M.; Fleischer, N.; Unger, S.; Superti-Furga, A.(2020) The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases. Genes 2020, 11, 420.

Jezela-Stanek, A.; Ciara, E.; Stepien, K.M. (2020) Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series. Int. J. Mol. Sci. 2020, 21, 4564.

Pascolini G. (2020) DeepGestalt analysis of the SETD5-associated intellectual disability syndrome. J Transl Genet Genom 2020;4:17-21.

Myers L, Anderlid B-M, Nordgren A,et al.(2020) linical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders. Am J Med Genet Part A. 2020;1–13.

Arora V, Puri RD, Bijarnia-Mahay S, Verma IC.(2020) Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India. Am J Med Genet Part A. 2020;1–4.

Basel, D (2020) Dysmorphology in a Genomic Era. Clinics in Perinatology, Volume 47, Issue 1, 15-23

Gurovich Y (2020) The Path to and Impact of Disease Recognition with AI in IEEE Pulse, vol. 11, no. 1, pp. 13-16, Jan.-Feb. 2020. doi:10.1109/MPULS.2020.2972722

Latorre-Pellicer, A., et al. (2020) Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes. Int. J. Mol. Sci. 2020, 21, 1042

Cuvertino, S., Hartill, V., Colyer, A. et al. (2020) A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genet Med (2020).

Elmas M, Gogus B (2020) Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience. Mol Syndromol 2020. doi: 10.1159/000505800

Bijarnia-Mahay S, Arora V. (2020) Next Generation Clinical Practice – It’s Man Versus Artificial Intelligence!. Indian Pediatr. 2019;56(12):1007–1008.

Narayanan, Dhanya & Ranganath, Prajnya & Aggarwal, Shagun & Dalal, Ashwin & Phadke, Shubha & Mandal, Kaushik. (2020). Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children. Indian Pediatrics. 56. 1017-1019. 10.1007/s13312-019-1682-4.

Christopher C Y Mak, Dan Doherty, et al. (2020) MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis, Brain, Vol 143,Issue1, Jan 2020, Pages 55–68,

Kruszka, P, Addissie, YA, Tekendo‐Ngongang, C, et al.(2019) Turner syndrome in diverse populations. Am J Med Genet Part A. 2019; 1– 11.

Soo Kyoung Kim, So Yoon Jung, Seong Phil Bae1, Jieun Kim, Jeongho Lee, Dong Hwan Lee (2019) A case of Noonan syndrome diagnosed using the facial recognition software (Face2Gene) Journal of Genetic Medicine 2019;16:81-84

Zarate YA, Bosanko KA, Gripp KW (2019) Using facial analysis technology in a typical genetic clinic:experience from 30 individuals from a single institution Journal of Human Genetics 1435-232X

Pascolini G, ValiantevM, Bottillo I, Laino I, Fleischer N, Ferrari A, Grammatico P (2019) Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion. Eur J Med Genet. 2019 Aug 14:103739. doi: 10.1016/j.ejmg.2019.103739.

Weiss k, Lazar HP […] Lachlan K (2019) The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis. Genetics in Medicine 1530-0366

Kruszka P, Hu T, Hong S, […] Muenke M et al. (2019) Phenotype delineation of ZNF462 related syndrome. Am J Med Genet Part A. 2019; 1– 8.

Fung JLF, Rethanavelu K, Luk HM, Ho MSP, Lo IFM, Chung BHY (2019) Coffin-Lowry syndrome in Chinese.Am J Med Genet A. 2019 Aug 9. doi: 10.1002/ajmg.a.61323.

Danyel M, Cheng Z, Jung C, Boschann F, […] Mensah M (2019) Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings. European Journal of Human Genetics

Knaus A, Kortüm F, Kleefstra T, et al. (2019) Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. Am J Hum Genet. 2019 Jul 18. pii: S0002-9297(19)30234-4. doi: 10.1016/j.ajhg.2019.06.009.

Hsieh TC, Mensah MA, […] Krawitz PM (2019) PEDIA: prioritization of exome data by image analysis. Genetics in Medicine

Pascolini G, Fleischer N, Ferraris A, Majore S, Grammatico P. (2019) The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers. Journal of Human Genetics, SN-1435-32X

Mishima H, Suzuki H, Doi M, Miyazaki M, Watanabe S, Matsumoto T, Morifuji K, Moriuchi H, Yoshiura K, Kondoh T, Kosaki K. (2019) Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan. Journal of Human Genetics 1435-232X

Bayat A, Knaus A,Wollenberg A, et al. (2019) PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. Genetics in Medicine SN – 1530-0366,

Carli D, Giorgio E, Pantaleoni F, et al. (2019) NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations. Human Mutation. 2019; 1– 8.

Marbach F, Rustad C, Riess A,Netzer C. (2019) The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping, Am J Hum Gene

Gurovich Y, Hanani Y, Bar O, Nadav G, Fleischer N, Gelbman D, Basel-Salmon L, Krawitz PM, Kamphausen SB, Zenker M, Bird LM, Gripp KW. (2019) Identifying facial phenotypes of genetic disorders using deep learning. Nature Medicine 25, pages 60–64 DOI:10.1038/s41591-018-0279-0

Martinez-Monseny A,Cuadras D, Bolasell M, et al. (2018) From gestalt to gene: early predictive dysmorphic features of PMM2-CDG J Med Genet doi:10.1136/jmedgenet-2018-105588

Shia W, Chena Y, Chena S, Lia S, Changa C, Zhanga L, Feia H, Huanga H, Zhanga J, Xua C,(2018) Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome. Journal of Bio-X Research 1:140–146

Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW. (2018) Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool. Am J Med Genet Part A.2018;176A:1648 1656

Vorravanpreecha N, Lertboonnum T, Rodjanadit R, Sriplienchan P, Rojnueangnit K, (2018) Studying Down syndrome recognition probabilities in Thai children with de‐identified computer‐aided facial analysis. American Journal of Medical Genetics Am J Med Genet Part A. 2018;1–6

Jiang Y, Wangler MF, McGuire Al, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez‐Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA (2018) The phenotypic spectrum of Xia‐Gibbs syndrome Am J Med Genet, V176, I 6, P1315-1326 doi: 10.1002/ajmg.a.38699

Ferreira, CR; Altassan, R.; Marques-Da-Silva, D; Francisco, R.; Jaeken J.; Morava E.; Recognizable phenotypes in CDG J Inherit Metab Dis (2018).

Pantel JT., Zhao M., Mensah MA., Hajjir N., Hsieh TH., Hanani Y., Fleischer N., Kamphans T., Mundlos S., Gurovich Y, Krawitz PM. Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism J Inherit Metab Dis (2018).

Armand T.(2018) Étude phénotypique de 189 patiets exposés en antenatal a l’acide Valporique. These PhD en medicine, présentée à l’Université Claude Bernard Lyon, France.

Hurst, Anna C.E. (2018). Facial recognition software in clinical dysmorphology. Current Opinion in Pediatrics, (),1–. doi:10.1097/mop.0000000000000677

Zarate YA,Smith-Hicks CL, Greene C, Abbott MA, et al. (2018) Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet Part A. 2018;1–11. DOI: 10.1002/ajmg.a.38630

Knaus A, Pantel JT, Pendziwiat M., Hajjir, et al.(2018) Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Med. 2018; 10: 3. DOI: 10.1186/s13073-017-0510-5.

Valentine M., Bihm D.C.J., Wolf L, Hoyme H.E., May P.A., Buckley D., Kalberg W., Abdul-Rahman O. (2017) Computer-Aided Recognition of Facial Attributes for Fetal Alcohol Spectrum Disorders. Pediatrics, e20162028; doi: 10.1542/peds.2016-2028.

Liehr T, Acquarola N, Pyle K, St-Pierre S, Rinholm M, Bar O, Wilhelm K, Schreyer I. (2017) Next generation phenotyping in Emanuel and Pallister Killian Syndrome using computer-aided facial dysmorphology analysis of 2D photos. Clin Genet. 2017 Jun 29. doi: 10.1111/cge.13087.

Hadj-Rabia S, Schneider H, Navarro E, Klein O, Kirby N, Huttner K, Wolf L, Orin M, Wohlfart S2, Bodemer C, Grange DK. (2017) Automatic recognition of the XLHED phenotype from facial images. Am J Med Genet A. 2017 ,173(9):2408-2414. doi: 10.1002/ajmg.a.38343. Epub 2017 Jul 10.

Chiu Annie T.G., Zhu Lixing, Gary T.K. Moka, Leung G K.C. , Chowa, C.B. Chung Brian H.Y. (2016) Before and after – Nutritional transformation of dysmorphism in a case of Costello syndrome, Eur J Med Genet. 2016 Nov;59(11):573-576.

Gardner OK, Haynes K, Schweitzer D, Johns A, Magee WP, Urata MM, Sanchez-Lara PA. (2016) Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature. Cleft Palate Craniofac J. 2016 Jun 29. DOI: 10.1597/15-151.

Gripp KW, Baker L, Telegrafi A, Monaghan KG.(2016) The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes. Am J Med Genet A. 2016 Apr 26.

Kayembe KT., Kasole LT, Mbuyi-Musanzayi S, Kabamba NL, Katshiez Nawej C, Musa Obadia P, Banza Lubaba Nkulu C, Nemery B, Devriendt K.. (2016), Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the Congo. Clinical Dysmorpholgy 2016 Oct;25(4):178-8.

Lumaka A, Cosemans N, Lulebo Mampasi A, Mubungu G, Mvuama N, Lubala T, Mbuyi-Musanzayi S, Breckpot J, Holvoet M, De Ravel T, Van Buggenhout G, Peeters H, Donnai D, Mutesa L, Verloes A, Lukusa Tshilobo P, Devriendt K.(2016), Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator Clin Genet. 2016 Dec 7.

Lumaka A, Lukoo R, Mubungu G, Lumpala P, Mbayabo G, Mupuala A, Lukusa Tshilobo P, Devriendt K., (2016) Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting. Clinical Case Reports 2016 4(3):294-297.

Basel-Vanagaite L, Wolf L, Orin M, Larizza L, Gervasini C, Krantz ID, Deardoff MA. (2016) Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. Clin Genet. 2016 May;89(5):557-63.


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  • Using Face2Gene to reference all my department’s cases, share information with my colleagues and quickly look up relevant information in the London Medical Databases Online saves me hours of work every week and allows me to focus on my patients.

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    Assoc. Prof. Ibrahim Akalin, MD, Medical Geneticist from the Istanbul Medeniyet University, Istanbul, Turkey

  • FDNA’s game-changing technology introduces an objective computer-aided dimension to the “art of dysmorphology”, transforming the analysis into an evidence-based science.

    Dr. Michael R. Hayden

    Chairman of FDNA’s Scientific Advisory Board & Steering Committee and Editor in Chief of Clinical Genetics

  • FDNA is developing technology that has the potential to help so many physicians and families by bringing them closer to a diagnosis- there are literally millions of individuals with unusual features around the world that lack a diagnosis and therefore lack information on natural history, recurrence risk and prevention of known complications.

    Dr. Judith G. Hall

    Professor Emerita of Pediatrics & Medical Genetics UBC & Children's and Women's Health Centre of BC

  • FDNA has been “right on the money”, providing me with relevant, accurate and insightful information for differential diagnoses.

    Dr. Cynthia J.R. Curry

    Professor of Pediatrics UCSF, Adjunct Professor of Pediatrics Stanford

  • I am excited to be a part of the FDNA community, promoting broad information sharing with my peers to amplify the scientific and clinical value of our community’s accumulated knowledge for the purpose of efficiently diagnosing individuals with rare genetic disorders.

    Dr. Karen W. Gripp

    Chief, Division of Medical Genetics A.I. duPont Hospital for Children

  • FDNA's idea of incorporating several dysmorphology resources (OMIM, GeneReviews), supported by their visual analytic technology, will be able to improve researching of genetic syndromes - all within a single mobile app.

    Dr. Chad Haldeman-Englert

    Assistant Professor Pediatrics at Mission Fullerton Genetics

  • Given the advancement of visual analytical technology, it’s about time Dysmorphology is supported with computational capabilities and moving this to mobile support, is simply the next logical step.

    Dr. Chanika Phornphutkul

    Associate Professor of Pediatrics Director, Division of Human Genetics Department of Pediatrics Warren Alpert Medical School of Brown University

  • Having an archive of cases easily accessible from my mobile device anytime and anywhere is a long-time unmet need.

    Dr. Lynne Bird

    Rady Children's Specialists of San Diego

  • FDNA's solution is a huge leap forward for dysmorphology. It saves me significant time when I’m evaluating patients in my clinic and provides me with insightful tools that help me generate a differential diagnosis.

    Dr. David A. Chitayat

    Head of the Prenatal Diagnosis and Medical Genetics Program at Mount Sinai Hospital, Toronto

  • Shortly after learning about Face2Gene, I’ve started to incorporate this amazing tool into my workflow. Soon enough, Face2Gene’s analysis flushed out references that I would not have considered for several of my patients, which turned out to be their correct diagnosis

    Dr. Zvi U. Borochowitz

    Chairman (Retired) of The Simon Winter Institute for Human Genetics at Bnai-Zion Medical Center, Technion-Rappaport Faculty of Medicine

  • The Unknown Forum from Face2Gene is a great community platform for exchanging opinions regarding undiagnosed cases. It is straightforward to use and safe for exchange of medical data, thanks to the efforts of its developers and to the involvement of geneticists worldwide.

    Dr. Oana Moldovan

    Clinical Geneticist at the Hospital Santa Maria, CHLN, Lisbon, Portugal