|
| 35902206 | Identification of novel loci in obstructive sleep apnea in European American and African American children. | Sleep | 2024 |
| 35902206 | Identification of novel loci in obstructive sleep apnea in European American and African American children. | Sleep | 2024 |
| 37934608 | Single-Cell RNA Sequencing Technology Landscape in 2023. | Stem Cells | 2024 |
| 37924258 | De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. | Genet Med | 2024 |
| 37989391 | High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations. | Transl Res | 2024 |
| 37978863 | Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review. | Genet Med | 2024 |
| 37705207 | Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA. | Am J Med Genet A | 2024 |
| 37962958 | Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. | J Clin Invest | 2024 |
| 37865391 | A Protective Role of Low Polygenic Risk Score in Healthy Individuals Carrying Attention-Deficit/Hyperactivity Disorder-Associated Copy Number Variations. | Biol Psychiatry | 2024 |
| 37688579 | Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival. | J Natl Cancer Inst | 2024 |
| 37246069 | Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes. | Eur Urol | 2024 |
| 37865391 | A Protective Role of Low Polygenic Risk Score in Healthy Individuals Carrying Attention-Deficit/Hyperactivity Disorder-Associated Copy Number Variations. | Biol Psychiatry | 2024 |
| 37962958 | Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. | J Clin Invest | 2024 |
| 37705207 | Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA. | Am J Med Genet A | 2024 |
| 37989391 | High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations. | Transl Res | 2024 |
| 37688579 | Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival. | J Natl Cancer Inst | 2024 |
| 37934608 | Single-Cell RNA Sequencing Technology Landscape in 2023. | Stem Cells | 2024 |
| 37978863 | Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review. | Genet Med | 2024 |
| 37924258 | De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. | Genet Med | 2024 |
| 37246069 | Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes. | Eur Urol | 2024 |
| 35246606 | Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition. | Pediatr Res | 2023 |
| 36302597 | Genomic Disorders in CKD across the Lifespan. | J Am Soc Nephrol | 2023 |
| 36089080 | Genetic architecture of asthma in African American patients. | J Allergy Clin Immunol | 2023 |
| 36148638 | A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual. | Mol Genet Genomic Med | 2023 |
| 36403896 | Differences in Self-Reported Food Allergy and Food-Associated Anaphylaxis by Race and Ethnicity Among SAPPHIRE Cohort Participants. | J Allergy Clin Immunol Pract | 2023 |
| 36316489 | ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies. | Eur J Hum Genet | 2023 |
| 38022642 | SOCS-JAK-STAT inhibitors and SOCS mimetics as treatment options for autoimmune uveitis, psoriasis, lupus, and autoimmune encephalitis. | Front Immunol | 2023 |
| 37662324 | Clinical consequences of a polygenic predisposition to benign lower white blood cell counts: Consequences of benign WBC count genetics. | medRxiv | 2023 |
| 37898691 | Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. | Sci Rep | 2023 |
| 37572794 | Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes. | J Hepatol | 2023 |
| 37794016 | European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. | Nat Commun | 2023 |
| 37883979 | Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. | Am J Hum Genet | 2023 |
| 37559342 | Genomic information of children with malignant brain tumors for the prediction of length of hospitalization. | Cancer Commun (Lond) | 2023 |
| 38072244 | Mitochondrial DNA Haplogroup K Is Protective Against Autism Spectrum Disorder Risk in Populations of European Ancestry. | J Am Acad Child Adolesc Psychiatry | 2023 |
| 37968452 | Author Correction: Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. | Sci Rep | 2023 |
| 37700208 | The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies. | J Community Genet | 2023 |
| 37626566 | Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient. | Brain Sci | 2023 |
| 38066724 | Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study. | Prenat Diagn | 2023 |
| 37777856 | GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors. | Am J Psychiatry | 2023 |
| 37550488 | Insights Image for "Treatment of severe Kaposiform Lymphangiomatosis positive for NRAS mutation by MEK-inhibition". | Pediatr Res | 2023 |
| 37154160 | Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition. | JCI Insight | 2023 |
| 37154148 | Performance of prenatal cfDNA screening for sex chromosomes. | Genet Med | 2023 |
| 36653407 | Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort. | Sci Rep | 2023 |
| 37028392 | Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets. | Am J Hum Genet | 2023 |
| 37027481 | Human T follicular helper clones seed the germinal center-resident regulatory pool. | Sci Immunol | 2023 |
| 36964086 | Monogenic hypertension-a type of "curable" hypertension. | Sci Bull (Beijing) | 2023 |
| 36712066 | Trans-ethnic Polygenic Risk Scores for Body Mass Index: An International Hundred K+ Cohorts Consortium Study. | medRxiv | 2023 |
| 37080563 | Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up. | J Am Med Inform Assoc | 2023 |
| 37461624 | Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies <i>LRRC4C, LHX5-AS1</i> and nominates ancestry-specific loci <i>PTPRK</i> , <i>GRB14</i> , and <i>KIAA0825</i> as novel risk loci for Alzheimer's disease: the Alzheimer's Disease Genetics Consortium. | medRxiv | 2023 |
| 37264205 | Genomic profiling informs diagnoses and treatment in vascular anomalies. | Nat Med | 2023 |