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Page 1
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O, … See abstract for full author list ➔ Lesmann H, et al. Among authors: devriendt k. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4438861. doi: 10.21203/rs.3.rs-4438861/v1. Res Sq. 2024. PMID: 38903062 Free PMC article. Preprint.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, Hagen MT, Thong MK, Mazlan RAB, Tae SK, Kamphans T, Meiswinkel W, Li JM, Javanmardi B, Knaus A, Uwineza A, Knopp C, Tkemaladze T, Elbracht M, Mattern L, Jamra RA, Velmans C, Strehlow V, Jacob M, Peron A, Dias C, Nunes BC, Vilella T, Pinheiro IF, Kim CA, Melaragno MI, Weiland H, Kaptain S, Chwiałkowska K, Kwasniewski M, Saad R, Wiethoff S, Goel H, Tang C, Hau A, Barakat TS, Panek P, Nabil A, Suh J, Braun F, Gomy I, Averdunk L, Ekure E, Bergant G, Peterlin B, Graziano C, Gaboon N, Fiesco-Roa M, Spinelli AM, Wilpert NM, Phowthongkum P, Güzel N, Haack TB, Bitar R, Tzschach A, Rodriguez-Palmero A, Brunet T, Rudnik-Schöneborn S, Contreras-Capetillo SN, Oberlack A, Samango-Sprouse C, Sadeghin T, Olaya M, Platzer K, Borovikov A, Schnabel F, Heuft L, Herrmann V, Oegema R, Elkhateeb N, Kumar S, Komlosi K, Mohamed K, Kalantari S, Sirchia F, Martinez-Monseny AF, Höller M, Toutouna L, Mohamed A, Lasa-Aranzasti A, Sayer JA, Ehmke N, Danyel M, Sczakiel H, Schwartzmann S, Boschann F, Zhao M, Adam R, Einicke L, Horn D, Chew KS, Kam CC, Karakoyun M, Pode-Shakked B, Eliyahu A, Rock R, Carrion T, Chorin O, Zarat… See abstract for full author list ➔ Lesmann H, et al. Among authors: devriendt k. medRxiv [Preprint]. 2024 Oct 8:2023.06.06.23290887. doi: 10.1101/2023.06.06.23290887. medRxiv. 2024. PMID: 37503210 Free PMC article. Preprint.
Rare Autosomal Trisomies and Adverse Perinatal Outcomes.
Lannoo L, Van Den Bogaert K, Brison N, Dehaspe L, Dimitriadou E, Fieuws S, Melotte C, Duquenne A, Parijs I, Sznajer Y, Vancoillie L, Vandecruys H, Vermeesch JR, Devriendt K, Van Calsteren K. Lannoo L, et al. Among authors: devriendt k. N Engl J Med. 2024 Jul 11;391(2):184-185. doi: 10.1056/NEJMc2311046. N Engl J Med. 2024. PMID: 38986064 No abstract available.
First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC).
Nsiangani Lusambo N, Fuanani P, Mubungu G, Makay P, Ngole M, Ngweme G, Kajingulu FP, Perry D, Kesari A, Calzetti G, Rivolta C, Devriendt K, Lukusa Tshilobo P, Thorpe E, Taft RJ, Lumaka A. Nsiangani Lusambo N, et al. Among authors: devriendt k. Ann Hum Genet. 2025 Jul;89(4):141-148. doi: 10.1111/ahg.12604. Epub 2025 May 16. Ann Hum Genet. 2025. PMID: 40377368
Persistent Uninterpretable or Failed Prenatal Cell-Free DNA Screening Indicates a High-Risk Pregnancy and is Associated With Biological Factors Interfering With cfDNA-Analysis: A Prospective Cohort Study.
Lannoo L, Van Den Bogaert K, Belmans A, Brison N, Dehaspe L, De Langhe E, Vancoillie L, Parijs I, Vermeesch JR, Devriendt K, Van Calsteren K. Lannoo L, et al. Among authors: devriendt k. Prenat Diagn. 2025 May;45(5):581-590. doi: 10.1002/pd.6778. Epub 2025 Mar 20. Prenat Diagn. 2025. PMID: 40114366
Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes.
Ngole M, Mbayabo G, Lumbala P, Race V, Mvuama N, Deman S, Souche E, Lukusa PT, Van Geet C, Devriendt K, Matthijs G, Lumaka A, Cleynen I. Ngole M, et al. Among authors: devriendt k. Mediterr J Hematol Infect Dis. 2025 Jan 1;17(1):e2025001. doi: 10.4084/MJHID.2025.001. eCollection 2025. Mediterr J Hematol Infect Dis. 2025. PMID: 39830798 Free PMC article. No abstract available.
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.
Beyens A, Van De Voorde S, Guerreiro Santano Ramos Da Silva M, De Meulemeester S, Devriendt K, Goeteyn M, Janssens S, Kooy RF, Rosseel T, Symoens S, Hes FJ, Keymolen K, Dimitrov B, Callewaert B. Beyens A, et al. Among authors: devriendt k. Clin Genet. 2025 May;107(5):579-581. doi: 10.1111/cge.14705. Epub 2025 Jan 19. Clin Genet. 2025. PMID: 39828664
606 results