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ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant2020 Molecular Genetics & Genomic Medicine article Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
María Eugenia de la Morena‐Barrio, Maria Sabater Molina, Belén de la Morena‐Barrio, L. Renee Ruhaak, Antonia Miñano, José Padilla, +5 more
13citations -
Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency—Centromeric Instability—Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study2024 Journal of Clinical Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Dagmar Berghuis, Lubna Shafiq Mehyar, Rolla Abu‐Arja, Michael H. Albert, Jessie L. Barnum, Horst von Bernuth, +11 more
8citations -
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study2024 Journal of Medical Internet Research article Computer Science Face recognition and analysis Open access
Alisa Maria Vittoria Reiter, Jean Tori Pantel, Magdalena Danyel, Denise Horn, Claus‐Eric Ott, Martin A. Mensah
18citations -
Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt2023 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Elise Pelgrims, Sally Ann Lynch, Laurens Hannes, Mariëtte J.V. Hoffer, Cindy Melotte, Arie van Haeringen, +2 more
1citations -
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, +75 more
41citations -
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology2022 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie M. McGaughran, Isabelle Maystadt, Stéphanie Moortgat, +32 more
26citations -
Diagnostic yield of genetic testing in children with short stature: a systematic review2026 European Journal of Endocrinology review Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Renata C. Scalco, Jan W. Schoones, Despoina M. Galetaki, Ana Maria Santillan‐Vasconez, Gabriela J. Kim, Laurana de Polli Cellin, +8 more
9citations -
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals2023 Frontiers in Cell and Developmental Biology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C. Bramswig, +31 more
24citations -
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl S. Cytrynbaum, +81 more
73citations -
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome2022 American Journal of Medical Genetics Part C Seminars in Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Gerarda Cappuccio, Simona Brillante, Roberta Tammaro, Michele Pinelli, Margherita Lucia De Bernardi, Maria Grazia Gensini, +11 more
9citations -
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients2023 Clinical Dysmorphology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Rebecca L. Poole, Emilia K. Bijlsma, Gunnar Houge, Gabriela E. Jones, Violeta Mikštienė, Eglė Preikšaitienė, +1 more
5citations -
Inherited cases of CNOT3 ‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Robert Meyer, Matthias Begemann, Stephanie Demuth, Florian Kraft, Daniela Dey, Herdit M. Schüler, +6 more
25citations -
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas2020 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Dara Tolchin, J. Paige Yeager, Naghmeh Dorrani, Alvaro Serrano Russi, Julián A. Martínez-Agosto, Abdul Haseeb, +84 more
37citations -
Further Delineation of the AUTS2 HX Repeat Domain‐Related Phenotype2025 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Esin Nur Erdogan, Chi Vicky Cheng, Stefano Giuseppe Caraffi, Ivan P. Ivanovski, Gianluca Piatelli, Edoardo Errichiello, +26 more
3citations -
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 Cases2020 Genes article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Camille Kumps, Belinda Campos‐Xavier, Yvonne Hilhorst‐Hofstee, Carlo Marcelis, MARIUS E. KRAENZLIN, Nicole Fleischer, +2 more
19citations -
monarch-initiative/mondo: v2026-09-012026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, MeeSiing Ngu, Trish Whetzel, +21 more
0citations -
monarch-initiative/mondo: v2026-03-032026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +20 more
0citations -
DLG4-related synaptopathy: a new rare brain disorder2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés, Kimberly A. Aldinger, Íñigo Marcos‐Alcalde, Bernt Popp, +80 more
62citations