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Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maria Asif, Arwa Ishaq A. Khayyat, Salem Alawbathani, Uzma Abdullah, Anne Sanner, Theodoros Georgomanolis, +17 more
2citations -
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Nour M. Elkhateeb, Renarta Crookes, Michael Spiller, Lisa Pavinato, Flavia Palermo, Alfredo Brusco, +61 more
7citations -
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 -
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Meena Balasubramanian, Alexander J.M. Dingemans, Shadi Albaba, Ruth Richardson, T. Michael Yates, Sofia Douzgou, +32 more
39citations -
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Benjamin Billiet, Patrizia Amati‐Bonneau, Valérie Desquiret‐Dumas, Khadidja Guehlouz, Dan Miléa, Philippe Gohier, +5 more
20citations -
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC2020 Human Mutation article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Heike Kölbel, Andreas Roos, Peter F. M. van der Ven, Teresinha Evangelista, Kay Wilhelm Nolte, Katherine Johnson, +9 more
18citations -
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice2023 Science Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Sarah E. Sheppard, Laura M. Bryant, Rochelle N. Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, +93 more
17citations -
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature2020 Journal of Child Neurology article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Marieke G. Peetsold, Susan M. I. Goorden, Martijn H. Breuning, Monique Williams, Jaap Adriaan Bakker, Ed H. Jacobs, +2 more
14citations -
Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review2023 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Karlijn Pellikaan, Naomi Nguyen, Anna G. W. Rosenberg, Muriel Coupaye, Anthony Peter Goldstone, Charlotte Höybye, +9 more
13citations -
Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome2020 Journal of Clinical Ultrasound article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Judith Altmann, Denise Horn, Dirk Korinth, Thomas Eggermann, Wolfgang Henrich, Stefan Verlohren
12citations -
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elisa Calì, Mohnish Suri, Marcello Scala, Matteo Paolo Ferla, Shahryar Alavi, Eissa Faqeih, +60 more
9citations -
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Francesca Furia, Amanda M. Levy, Miel Theunis, Michael J. Bamshad, Meghan N. Bartos, Emilia K. Bijlsma, +30 more
8citations -
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 -
Expanding the Genetic and Phenotypic Spectrum of POLRMT ‐Related Mitochondrial Disease2025 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Miriam Elbracht, +14 more
3citations -
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benónísdóttir, Malak Ali Alghamdi, +60 more
2citations -
Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series2026 Journal of Neurodevelopmental Disorders article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Salvatore Savasta, Francesco Fabrizio Comisi, Giovanni Battista Dell’Isola, Gabriele Di Pasquale, Ivy Johnson, Isabella Herman, +8 more
1citations -
Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic Features2025 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jennifer Black, Robert Roger Lebel, Ria Garg, Maayke A. de Koning, Claudia A. L. Ruivenkamp, Himanshu Goel, +1 more
1citations -
Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel L2HGDH Mutation with a Concurrent RYR1 Variant2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Seyed Mohsen Dehghani, Bita Geramizadeh, Ralf Weiskirchen
0citations -
Clinical characterization and genotype–phenotype correlations in Chilton-Okur-Chung syndrome2026 BMC Medical Genomics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Mehmet Buğrahan Düz, Amaia Lasa‐Aranzasti, Ana Cazurro‐Gutiérrez, Anna Hackett, Anna Maria Cueto-González, Arthur Arenas Périco, +22 more
0citations