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| 36598158 | A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. | Am J Med Genet A | 2023 |
| 37751738 | PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. | Am J Hum Genet | 2023 |
| 37711075 | Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. | J Inherit Metab Dis | 2023 |
| 37688563 | aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants. | Bioinformatics | 2023 |
| 37191809 | Gain-of-Function Variomics and Multi-omics Network Biology for Precision Medicine. | Methods Mol Biol | 2023 |
| 37124138 | Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome. | HGG Adv | 2023 |
| 36993377 | aenmd: Annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants. | bioRxiv | 2023 |
| 37467750 | Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. | Am J Hum Genet | 2023 |
| 37194601 | Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study. | Circ Genom Precis Med | 2023 |
| 36724785 | Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. | Am J Hum Genet | 2023 |
| 36752347 | AD-Syn-Net: systematic identification of Alzheimer's disease-associated mutation and co-mutation vulnerabilities via deep learning. | Brief Bioinform | 2023 |
| 36879885 | AI-DrugNet: A network-based deep learning model for drug repurposing and combination therapy in neurological disorders. | Comput Struct Biotechnol J | 2023 |
| 36853234 | Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. | Genet Med | 2023 |
| 36401616 | Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. | Genet Med | 2023 |
| 34329649 | Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. | J Allergy Clin Immunol | 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 |
| 35344616 | Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. | Hum Mutat | 2022 |
| 35751429 | De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. | Am J Med Genet A | 2022 |
| 36112137 | Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. | Genet Med | 2022 |
| 36368327 | TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. | Am J Hum Genet | 2022 |
| 35962790 | Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. | Genet Med | 2022 |
| 36035248 | Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability. | HGG Adv | 2022 |
| 36303224 | The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. | Genome Med | 2022 |
| 35948005 | A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. | Am J Hum Genet | 2022 |
| 36283405 | Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. | Am J Hum Genet | 2022 |
| 35227688 | Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. | Kidney Int | 2022 |
| 35191117 | Variant-level matching for diagnosis and discovery: Challenges and opportunities. | Hum Mutat | 2022 |
| 35332675 | Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. | Am J Med Genet A | 2022 |
| 34906488 | Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. | Genet Med | 2022 |
| 34816580 | Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. | Am J Med Genet A | 2022 |
| 34605855 | Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. | Brain | 2022 |
| 32905580 | Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. | Blood | 2021 |
| 33544954 | Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. | Am J Med Genet A | 2021 |
| 33797191 | A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. | Am J Med Genet A | 2021 |
| 35047859 | Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. | HGG Adv | 2021 |
| 34524739 | Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. | Ann Clin Transl Neurol | 2021 |
| 34407837 | PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. | Orphanet J Rare Dis | 2021 |
| 34582790 | High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. | Am J Hum Genet | 2021 |
| 34385670 | Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. | Genet Med | 2021 |
| 34129815 | Exome variant discrepancies due to reference-genome differences. | Am J Hum Genet | 2021 |
| 34095032 | Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature. | Front Pediatr | 2021 |
| 34089229 | Risk of sudden cardiac death in EXOSC5-related disease. | Am J Med Genet A | 2021 |
| 34054129 | Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. | Genet Med | 2021 |
| 33977145 | Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy. | Neurol Genet | 2021 |
| 33434492 | Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. | Am J Hum Genet | 2021 |
| 33048444 | Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. | Am J Med Genet A | 2021 |
| 33098347 | Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. | Am J Med Genet A | 2021 |
| 33260061 | Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. | Parkinsonism Relat Disord | 2021 |
| 31520839 | Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation. | J Allergy Clin Immunol Pract | 2020 |
| 31782611 | Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). | Am J Med Genet A | 2020 |