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| 37671596 | Delineating the phenotype of PNPLA8-related mitochondriopathies. | Clin Genet | 2024 |
| 38017281 | A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C. | J Hum Genet | 2024 |
| 37713627 | TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. | Brain | 2024 |
| 37798908 | Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome. | Am J Med Genet A | 2024 |
| 37951597 | Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. | Brain | 2024 |
| 36318270 | Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42Â affected individuals. | Genet Med | 2023 |
| 37963460 | Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. | Am J Hum Genet | 2023 |
| 37596828 | Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. | Am J Med Genet A | 2023 |
| 37711075 | Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. | J Inherit Metab Dis | 2023 |
| 37794925 | Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. | Brain Commun | 2023 |
| 37517035 | Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. | Brain | 2023 |
| 38031187 | Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. | Genome Med | 2023 |
| 37531237 | Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. | Hum Mol Genet | 2023 |
| 37459438 | SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. | Brain | 2023 |
| 37425688 | Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. | medRxiv | 2023 |
| 37157980 | Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. | Clin Genet | 2023 |
| 37318662 | An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies. | Mol Biol Rep | 2023 |
| 37055917 | Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS. | Clin Genet | 2023 |
| 37454282 | Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. | Genet Med | 2023 |
| 37119330 | AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. | Acta Neuropathol | 2023 |
| 37344571 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Eur J Hum Genet | 2023 |
| 36581449 | Consolidating the association of biallelic <i>MAPKAPK5</i> pathogenic variants with a distinct syndromic neurodevelopmental disorder. | J Med Genet | 2023 |
| 36669109 | TMEM161B modulates radial glial scaffolding in neocortical development. | Proc Natl Acad Sci U S A | 2023 |
| 36823193 | TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. | Nat Commun | 2023 |
| 34605855 | Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. | Brain | 2022 |
| 35616059 | Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. | Clin Genet | 2022 |
| 35769015 | Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. | Brain | 2022 |
| 35471564 | Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. | Ann Neurol | 2022 |
| 35830857 | Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. | Am J Hum Genet | 2022 |
| 35684946 | Biallelic loss of EMC10 leads to mild to severe intellectual disability. | Ann Clin Transl Neurol | 2022 |
| 36044892 | Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. | Am J Hum Genet | 2022 |
| 35869884 | GGPS1-associated muscular dystrophy with and without hearing loss. | Ann Clin Transl Neurol | 2022 |
| 36256512 | Phenotypic continuum of NFU1-related disorders. | Ann Clin Transl Neurol | 2022 |
| 35275316 | Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients. | J Genet Eng Biotechnol | 2022 |
| 35202461 | Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly. | Brain | 2022 |
| 35141356 | Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy. | Mov Disord Clin Pract | 2022 |
| 34989426 | Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. | Hum Mutat | 2022 |
| 35322404 | El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. | Clin Genet | 2022 |
| 34694367 | Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation. | Brain | 2022 |
| 32901138 | A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. | Eur J Hum Genet | 2021 |
| 33715266 | Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. | Hum Mutat | 2021 |
| 33544954 | Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. | Am J Med Genet A | 2021 |
| 33824466 | Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. | Eur J Hum Genet | 2021 |
| 33875846 | Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders. | Genet Med | 2021 |
| 34557665 | Homozygous missense <i>WIPI2</i> variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. | Brain Commun | 2021 |
| 34587489 | ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. | Am J Hum Genet | 2021 |
| 34587386 | A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. | N Engl J Med | 2021 |
| 34609792 | Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly. | Mol Genet Genomic Med | 2021 |
| 34546337 | Implication of folate deficiency in CYP2U1 loss of function. | J Exp Med | 2021 |
| 34631954 | A Novel Homozygous <i>ADCY5</i> Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities. | Mov Disord Clin Pract | 2021 |