CHRISTOPHER GROCHOWSKI to Humans
This is a "connection" page, showing publications CHRISTOPHER GROCHOWSKI has written about Humans.
Connection Strength
0.310
-
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590.
Score: 0.025
-
Validation of Single-Nucleotide Mosaic Variants Through Droplet Digital PCR. Curr Protoc. 2024 May; 4(5):e1041.
Score: 0.025
-
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat. 2018 07; 39(7):939-946.
Score: 0.017
-
Jagged1 (JAG1): Structure, expression, and disease associations. Gene. 2016 Jan 15; 576(1 Pt 3):381-4.
Score: 0.014
-
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome. Am J Med Genet A. 2015 Apr; 167A(4):891-3.
Score: 0.013
-
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146.
Score: 0.007
-
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps. Genome Res. 2024 Nov 20; 34(11):1785-1797.
Score: 0.007
-
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. Eur J Hum Genet. 2025 Mar; 33(2):231-238.
Score: 0.006
-
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 04 03; 16(1):53.
Score: 0.006
-
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.
Score: 0.006
-
Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 Oct; 42(10):1571-1580.
Score: 0.006
-
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2024 03; 26(3):101034.
Score: 0.006
-
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome. HGG Adv. 2023 07 13; 4(3):100188.
Score: 0.006
-
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
Score: 0.006
-
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122.
Score: 0.006
-
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053.
Score: 0.006
-
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet Med. 2022 10; 24(10):2187-2193.
Score: 0.006
-
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 09 01; 109(9):1713-1723.
Score: 0.006
-
Complex genomic rearrangements: an underestimated cause of rare diseases. Trends Genet. 2022 11; 38(11):1134-1146.
Score: 0.006
-
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Am J Med Genet A. 2022 08; 188(8):2360-2366.
Score: 0.006
-
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
Score: 0.006
-
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome. Eur J Med Genet. 2021 Dec; 64(12):104367.
Score: 0.005
-
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005.
Score: 0.005
-
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 07; 185(7):1972-1980.
Score: 0.005
-
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600.
Score: 0.005
-
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 12; 41(12):2094-2104.
Score: 0.005
-
Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum Mutat. 2020 11; 41(11):1979-1998.
Score: 0.005
-
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med. 2020 11; 22(11):1768-1776.
Score: 0.005
-
Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions. Curr Protoc Hum Genet. 2020 06; 106(1):e99.
Score: 0.005
-
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. Genomics. 2020 09; 112(5):2937-2941.
Score: 0.005
-
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 06; 182(6):1387-1399.
Score: 0.005
-
Exome Sequencing in Individuals with Isolated Biliary Atresia. Sci Rep. 2020 02 17; 10(1):2709.
Score: 0.005
-
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Hum Mutat. 2020 05; 41(5):973-982.
Score: 0.005
-
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 02 06; 106(2):272-279.
Score: 0.005
-
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 12 09; 11(1):80.
Score: 0.005
-
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015.
Score: 0.005
-
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat. 2019 12; 40(12):2197-2220.
Score: 0.005
-
Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.005
-
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150.
Score: 0.004
-
Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. Biol Psychiatry. 2019 10 01; 86(7):523-535.
Score: 0.004
-
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. PLoS Genet. 2018 08; 14(8):e1007532.
Score: 0.004
-
CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders. J Affect Disord. 2018 10 15; 239:247-252.
Score: 0.004
-
CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. J Child Adolesc Psychopharmacol. 2017 Dec; 27(10):908-915.
Score: 0.004
-
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies. Am J Med Genet A. 2016 Mar; 170(3):750-3.
Score: 0.004
-
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report. BMC Gastroenterol. 2015 Nov 18; 15:160.
Score: 0.004
-
Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors. Am J Med Genet A. 2016 Feb; 170A(2):471-475.
Score: 0.003
-
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. Hum Mutat. 2015 Jun; 36(6):631-7.
Score: 0.003
-
Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Hum Genet. 2014 Feb; 133(2):235-43.
Score: 0.003