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| 37422718 | De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias. | Genet Med | 2023 |
| 37728613 | De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias. | Genet Med | 2023 |
| 37554015 | TMCO3, a Putative K :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans. | | 2023 |
| 36653678 | INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms. | | 2023 |
| 37344571 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Eur J Hum Genet | 2023 |
| 37342957 | Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency. | N Engl J Med | 2023 |
| 36708876 | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature. | | 2023 |
| 37039969 | A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a. | | 2023 |
| 34694367 | Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation. | Brain | 2022 |
| 35451546 | Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype. | American Journal of Medical Genetics, Part A | 2022 |
| 35510366 | Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala). | Human Mutation | 2022 |
| 36077086 | Clinically Relevant <i>KCNQ1</i> Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca<sup>2+</sup> Sensitivity of the Channel. | Int J Mol Sci | 2022 |
| 36137748 | Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain. | Life Sci Alliance | 2022 |
| 35293990 | Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy. | Brain | 2022 |
| 35266227 | A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia. | Human Mutation | 2022 |
| 35013551 | Novel biallelic variants expand the SLC5A6-related phenotypic spectrum. | European Journal of Human Genetics | 2022 |
| 32788663 | Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. | Eur J Hum Genet | 2021 |
| 33704440 | CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders. | Brain | 2021 |
| 34010604 | Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. | American Journal of Human Genetics | 2021 |
| 33571691 | Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2. | European Journal of Medical Genetics | 2021 |
| 34037727 | Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis. | Brain | 2021 |
| 33654309 | MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. | Eur J Hum Genet | 2021 |
| 33436942 | Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing. | Scientific Reports | 2021 |
| 34341521 | Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III. | Genetics in Medicine | 2021 |
| 33594261 | Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K channelopathies. | European Journal of Human Genetics | 2021 |
| 33090494 | Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization. | J Neurochem | 2021 |
| 33159882 | Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities. | American Journal of Human Genetics | 2020 |
| 31789838 | Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature. | American Journal of Dermatopathology | 2020 |
| 32176688 | A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions. | PLoS Genetics | 2020 |
| 32097819 | Single-channel properties of skeletal muscle ryanodine receptor pore ο<sup>4923</sup>FF<sup>4924</sup> in two brothers with a lethal form of fetal akinesia. | Cell Calcium | 2020 |
| 32386085 | Microphthalmia with linear skin defects syndrome associated with hypopigmented mosaic lesions and ptosis: two siblings from Africa. | International Journal of Dermatology | 2020 |
| 32679894 | Genotype-Phenotype Correlation in Children: The Impact of Variants on Pediatric Marfan Care. | Genes | 2020 |
| 32623794 | Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. | Human Mutation | 2020 |
| 32622958 | Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants. | European Journal of Medical Genetics | 2020 |
| 32783269 | Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2. | American Journal of Medical Genetics, Part A | 2020 |
| 32497488 | Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. | Am J Hum Genet | 2020 |
| 30882951 | The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. | Hum Mutat | 2019 |
| 31795342 | Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome. | Journal of Clinical Medicine | 2019 |
| 30488656 | The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. | Human Mutation | 2019 |
| 31467394 | de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation. | Scientific Reports | 2019 |
| 30963242 | Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype. | Human Genetics | 2019 |
| 30675029 | Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. | Genetics in Medicine | 2019 |
| 31155282 | Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca-Activated K Channel SK3 Cause Zimmermann-Laband Syndrome. | American Journal of Human Genetics | 2019 |
| 29575616 | Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. | Am J Med Genet A | 2018 |
| 30290153 | Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. | American Journal of Human Genetics | 2018 |
| 29947416 | Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body. | British Journal of Dermatology | 2018 |
| 29271604 | The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor. | American Journal of Medical Genetics, Part A | 2018 |
| 29271567 | Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. | Am J Med Genet A | 2018 |
| 29390050 | A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy. | Brain | 2018 |
| 29659731 | Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation. | Brain | 2018 |