List of works - Christopher M Grochowski

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

scientific article published on 18 November 2015

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

scientific article published on 17 October 2019

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents

scientific article

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

scientific article published on 24 December 2015

Cytogenetically visible inversions are formed by multiple molecular mechanisms

scientific article published on 09 September 2020

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors

scientific article published on 13 October 2015

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

scientific article published on 09 December 2019

Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

scientific article published on 18 December 2015

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

scientific article published on 03 March 2015

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

scientific article published on 21 April 2015

Jagged1 (JAG1): Structure, expression, and disease associations

scientific article

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

scientific article published on 13 July 2020

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

scientific article

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

scientific article published on 13 October 2020

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

scientific article published on 06 May 2020

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

scientific article published on 15 September 2020

Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions

scientific article published on 01 June 2020

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

scientific article published on 30 January 2020

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

scientific article published on 09 October 2013

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

scientific article published on 26 May 2016

Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene

scientific article published on 09 May 2019

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

scientific article published on 20 June 2019

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

scientific article published on 31 March 2020

List of works by Christopher M Grochowski

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

Jagged1 (JAG1): Structure, expression, and disease associations

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome

Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation