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Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1458109
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- Publication type:
- Article
SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.
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- Journal of Personalized Medicine, 2024, v. 14, n. 6, p. 648, doi. 10.3390/jpm14060648
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- Publication type:
- Article
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-53
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- Publication type:
- Article
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
- Published in:
- 2014
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- Publication type:
- journal article
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
- Published in:
- 2017
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- Publication type:
- journal article
Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1458109
- By:
- Publication type:
- Article
Females with de novo aberrations in PHF6: Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 290, doi. 10.1002/ajmg.c.31408
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- Publication type:
- Article
Manifestation of epilepsy in a patient with EED‐related overgrowth (Cohen–Gibson syndrome).
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 292, doi. 10.1002/ajmg.a.62496
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- Publication type:
- Article
A novel splice variant expands the LAMC3‐associated cortical phenotype to frontal only polymicrogyria and adult‐onset epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2761, doi. 10.1002/ajmg.a.61846
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- Article
7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2737, doi. 10.1002/ajmg.a.61838
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- Publication type:
- Article
Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2872, doi. 10.1002/ajmg.a.40640
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- Publication type:
- Article
Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2231, doi. 10.1002/ajmg.a.38288
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- Publication type:
- Article
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1369, doi. 10.1002/ajmg.a.38164
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- Article
Biallelic SEMA3A defects cause a novel type of syndromic short stature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2880, doi. 10.1002/ajmg.a.36250
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- Publication type:
- Article
De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1765, doi. 10.1002/ajmg.a.35427
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- Publication type:
- Article
Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 713, doi. 10.1002/ajmg.a.34206
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- Publication type:
- Article
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 1, p. 20, doi. 10.1038/ng.724
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- Publication type:
- Article
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
- Published in:
- Human Genetics, 2014, v. 133, n. 7, p. 939, doi. 10.1007/s00439-014-1436-2
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- Publication type:
- Article
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 753, doi. 10.1038/ejhg.2014.165
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- Article
Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.
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- Medizinische Genetik, 2024, v. 36, n. 2, p. 121, doi. 10.1515/medgen-2024-2020
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- Publication type:
- Article
Diagnostik seltener Erkrankungen mit „next generation sequencing" – angekommen oder abgewehrt?
- Published in:
- Medizinische Genetik, 2019, v. 31, n. 3, p. 335, doi. 10.1007/s11825-019-00258-3
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- Publication type:
- Article
Genetik von Intelligenz und kognitiven Störungen - ein komplexes, aber relevantes Thema nicht nur für die Humangenetik.
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- Medizinische Genetik, 2018, v. 30, n. 3, p. 305, doi. 10.1007/s11825-018-0210-6
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- Publication type:
- Article
X-chromosomale Entwicklungsstörungen im weiblichen Geschlecht.
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- Medizinische Genetik, 2018, v. 30, n. 3, p. 334, doi. 10.1007/s11825-018-0199-x
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- Publication type:
- Article
Mikrozephalie bei psychomotorischen Entwicklungsstörungen und geistiger Behinderung.
- Published in:
- Medizinische Genetik, 2015, v. 27, n. 4, p. 362, doi. 10.1007/s11825-015-0072-0
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- Publication type:
- Article
Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-58182-5
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- Publication type:
- Article
New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 3, p. 283, doi. 10.1111/j.1469-1809.2009.00508.x
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- Publication type:
- Article
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1021, doi. 10.3233/JND-240023
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- Publication type:
- Article
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1263, doi. 10.1002/acn3.50822
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- Publication type:
- Article
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 6, p. 517, doi. 10.1111/cge.14206
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- Publication type:
- Article
Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 3, p. 182, doi. 10.1111/cge.14173
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- Publication type:
- Article
QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 1, p. 199, doi. 10.1111/cge.13853
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- Article
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 43, doi. 10.1111/cge.13755
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- Article
Skeletal abnormalities are common features in Aymé‐Gripp syndrome.
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- Clinical Genetics, 2020, v. 97, n. 2, p. 362, doi. 10.1111/cge.13651
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- Publication type:
- Article
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.
- Published in:
- 2019
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- Publication type:
- journal article
Loss of PHF6 leads to aberrant development of human neuron-like cells.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-75999-2
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- Publication type:
- Article
TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma.
- Published in:
- Acta Neuropathologica, 2019, v. 137, n. 4, p. 657, doi. 10.1007/s00401-019-01982-5
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- Publication type:
- Article
Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study.
- Published in:
- Application of Clinical Genetics, 2021, v. 14, p. 389, doi. 10.2147/TACG.S316215
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- Publication type:
- Article
Human Intellectual Disability Genes Form Conserved Functional Modules in <i>Drosophila</i>.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003911
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- Article
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
- Published in:
- 2019
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- Publication type:
- journal article
Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila.
- Published in:
- Human Mutation, 2014, v. 35, n. 12, p. 1495, doi. 10.1002/humu.22697
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- Publication type:
- Article
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 722, doi. 10.1002/humu.21253
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- Publication type:
- Article
Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons.
- Published in:
- Molecular Autism, 2018, v. 9, p. 1, doi. 10.1186/s13229-018-0200-1
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- Publication type:
- Article
NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53314-7
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- Publication type:
- Article