Medical Publications

Recent publications on how our technology is being used to help rare genetic disease patients.

Bibliography / References (updated as of November 2020)
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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
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. https://doi.org/10.1002/ajmg.a.61888
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. https://doi.org/10.1002/bdr2.1675
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). https://doi.org/10.1007/s10072-020-04510-6
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. https://doi.org/10.1002/ajmg.a.61412
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. https://doi.org/10.1002/ajmg.a.61605
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). https://doi.org/10.1038/s41436-020-0898-y
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. http://dx.doi.org/10.20517/jtgg.2020.05
Myers L, Anderlid B-M, Nordgren A,et al.(2020) Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders. Am J Med Genet Part A. 2020;1–13. https://doi.org/10.1002/ajmg.a.61545
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. https://doi.org/10.1002/ajmg.a.61534
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). https://doi.org/10.1038/s41436-019-0743-3
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, https://doi.org/10.1093/brain/awz379
Kruszka, P, Addissie, YA, Tekendo‐Ngongang, C, et al.(2019) Turner syndrome in diverse populations. Am J Med Genet Part A. 2019; 1– 11. https://doi.org/10.1002/ajmg.a.61461
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 https://doi.org/10.5734/JGM.2019.16.2.81
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 doi.org/10.1038/s10038-019-0673-6
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 https://doi.org/10.1038/s41436-019-0612-0
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. https://doi.org/10.1002/ajmg.a.61306
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. [Epub ahead of print]
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 https://doi.org/10.1038/s41431-019-0469-3
Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Dukić D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM.(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 https://doi.org/10.1038/s41436-019-0566-2
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 https://doi.org/10.1038/s10038-019-0598-0
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 https://doi.org/10.1038/s10038-019-0619-z
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, https://doi.org/10.1038/s41436-019-0512-3
Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M. (2019) NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations. Human Mutation. 2019; 1– 8. https://doi.org/10.1002/humu.23734
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 https://doi .org/10.1016/j.ajhg.2019.02.02
**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 rare genetic syndromes using deep learning. Nature Medicine 25, 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 http://dx.doi.org/10.1097/JBR.0000000000000022
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 doi.org/10.1002/ajmg.a.38832
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. https://doi.org/10.1002/ajmg.a.40483
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). https://doi.org/10.1007/s10545-018-0156-5
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). ttps://doi.org/10.1007/s10545-018-0174-3
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.
Zarate YA,Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun AR, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez X, Zackai E, Stein Q, Powell CM,,Schrier VS, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen J, Fatemi A, Vernon H, McClellan R, Fleming L, Knyszek B, Steinraths M, Velasco C, Beck A, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK; 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,  Zhao M., Hsieh TC,  Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat  A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ,1 van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ,  Weber Y, Helbig, I, Mundlos S, Horn D , Krawitz PM (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, 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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