183 results on '"Grochowski, Christopher M."'
Search Results
2. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
3. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder
4. A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
5. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
6. Validation of Single‐Nucleotide Mosaic Variants Through Droplet Digital PCR
7. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
8. Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome
9. Genome-wide maps of highly‐similar intrachromosomal repeats that mediate ectopic recombination in three human genome assemblies
10. Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2
11. Detection of mosaic and population-level structural variants with Sniffles2
12. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
13. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
14. Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures
15. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
16. Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene
17. CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders
18. Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
19. Exome Sequencing in Individuals with Isolated Biliary Atresia
20. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
21. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly
22. THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome
23. Complex genomic rearrangements: an underestimated cause of rare diseases
24. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
25. Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
26. Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism
27. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
28. De novo heterozygous variants inSLC30A7are a candidate cause for Joubert syndrome
29. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
30. Comprehensive Structural Variant Detection: From Mosaic to Population-Level
31. Centers for Mendelian Genomics: A decade of facilitating gene discovery
32. Additional file 1 of The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
33. Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia
34. Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies
35. Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism.
36. Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome
37. Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia
38. Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome
39. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
40. A novel homozygousSLC13A5whole‐gene deletion generated byAlu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy
41. Biallelic variants in ADAMTS15cause a novel form of distal arthrogryposis
42. Quantitative Assessment of Parental Somatic Mosaicism for CNV Deletions
43. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
44. Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases
45. Cytogenetically visible inversions are formed by multiple molecular mechanisms
46. Parental somatic mosaicism for CNV deletions – A need for more sensitive and precise detection methods in clinical diagnostics settings
47. Wolff–Parkinson–Whitesyndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation
48. Quantitative Assessment of Parental Somatic Mosaicism for Copy‐Number Variant (CNV) Deletions
49. Protein‐elongating mutations inMYH11are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease
50. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.