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| 38044468 | Diminished <i>TMEM</i>100 Expression in a Newborn With Acinar Dysplasia and a Novel <i>TBX4</i> Variant: A Case Report. | Pediatr Dev Pathol | 2024 |
| 36909564 | SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia. | Res Sq | 2023 |
| 36980952 | Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome. | Genes (Basel) | 2023 |
| 37031326 | SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia. | Hum Genet | 2023 |
| 36515465 | Cloud-native distributed genomic pileup operations. | Bioinformatics | 2023 |
| 35075769 | Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant. | Am J Med Genet A | 2022 |
| 35773178 | Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis. | Pancreatology | 2022 |
| 35648090 | Transcriptome and Immunohistochemical Analyses in <i>TBX4</i>- and <i>FGF10</i>-Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development. | Am J Respir Cell Mol Biol | 2022 |
| 35533956 | Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies? | Eur J Med Genet | 2022 |
| 35690331 | Postzygotic mutations and where to find them - Recent advances and future implications in the field of non-neoplastic somatic mosaicism. | Mutat Res Rev Mutat Res | 2022 |
| 35562925 | The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies. | Int J Mol Sci | 2022 |
| 35589511 | Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis - A possible new susceptibility gene. | Pancreatology | 2022 |
| 35902696 | Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant. | Eur J Hum Genet | 2022 |
| 36124617 | High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV. | Mol Genet Genomic Med | 2022 |
| 36157490 | Ultra-conserved non-coding sequences within the <i>FOXF1</i> enhancer are critical for human lung development. | Genes Dis | 2022 |
| 33478486 | Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq. | Respir Res | 2021 |
| 33739555 | Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR. | Hum Mutat | 2021 |
| 33711669 | Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe. | Adv Med Sci | 2021 |
| 34946966 | Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly. | Genes (Basel) | 2021 |
| 34930489 | Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset. | Hum Genomics | 2021 |
| 34440431 | Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the <i>ANKRD11</i> Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3. | Genes (Basel) | 2021 |
| 34538581 | Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients. | Pancreatology | 2021 |
| 33940562 | Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy. | Eur J Paediatr Neurol | 2021 |
| 34315444 | Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency. | Respir Res | 2021 |
| 32233023 | Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. | Am J Med Genet A | 2020 |
| 32655138 | Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. | Genet Med | 2020 |
| 32143628 | A de novo 2.2â¿¿Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report. | BMC Med Genomics | 2020 |
| 32328353 | Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus. | PeerJ | 2020 |
| 30639323 | Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. | Am J Hum Genet | 2019 |
| 31378808 | SeQuiLa-cov: A fast and scalable library for depth of coverage calculations. | Gigascience | 2019 |
| 31349857 | A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. | Genome Med | 2019 |
| 31630790 | Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. | Am J Hum Genet | 2019 |
| 31189067 | Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders. | Am J Respir Crit Care Med | 2019 |
| 30771411 | A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. | J Allergy Clin Immunol | 2019 |
| 31138108 | Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance. | BMC Bioinformatics | 2019 |
| 30428005 | SeQuiLa: an elastic, fast and scalable SQL-oriented solution for processing and querying genomic intervals. | Bioinformatics | 2019 |
| 30398676 | Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene. | Mov Disord | 2019 |
| 29343805 | Biallelic variants in KIF14 cause intellectual disability with microcephaly. | Eur J Hum Genet | 2018 |
| 30032986 | Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. | Am J Hum Genet | 2018 |
| 29618029 | The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. | Hum Mol Genet | 2018 |
| 29472117 | DNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of disease. | Forensic Sci Int Genet | 2018 |
| 29706646 | Comprehensive genomic analysis of patients with disorders of cerebral cortical development. | Eur J Hum Genet | 2018 |
| 29226947 | Phenotype expansion and development in Kosaki overgrowth syndrome. | Clin Genet | 2018 |
| 27577878 | Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. | J Allergy Clin Immunol | 2017 |
| 28388435 | De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. | Am J Hum Genet | 2017 |
| 28251352 | Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. | Hum Genet | 2017 |
| 28132691 | De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. | Am J Hum Genet | 2017 |
| 28327206 | Lessons learned from additional research analyses of unsolved clinical exome cases. | Genome Med | 2017 |
| 28235197 | An Organismal CNV Mutator Phenotype Restricted to Early Human Development. | Cell | 2017 |
| 28934986 | Identification of novel candidate disease genes from de novo exonic copy number variants. | Genome Med | 2017 |