Publications by authors named "Christopher M Grochowski"

29Publications

Cytogenetically visible inversions are formed by multiple molecular mechanisms.

Hum Mutat 2020 Nov 1;41(11):1979-1998. Epub 2020 Oct 1.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/humu.24106DOI Listing
November 2020

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

Curr Protoc Hum Genet 2020 06;106(1):e99

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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http://dx.doi.org/10.1002/cphg.99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7138410PMC
June 2020

Exome Sequencing in Individuals with Isolated Biliary Atresia.

Sci Rep 2020 02 17;10(1):2709. Epub 2020 Feb 17.

Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1038/s41598-020-59379-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026070PMC
February 2020

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 6;41(5):973-982. Epub 2020 Feb 6.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23986DOI Listing
May 2020

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Hum Mutat 2019 12 26;40(12):2197-2220. Epub 2019 Aug 26.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899717PMC
December 2019

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

PLoS Genet 2018 08 13;14(8):e1007532. Epub 2018 Aug 13.

Division of Human Genetics, Department of Pediatrics, at The Children's Hospital of Philadelphia, and The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107291PMC
August 2018

CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders.

J Affect Disord 2018 10 11;239:247-252. Epub 2018 Jul 11.

Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, TX 77030, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jad.2018.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6273479PMC
October 2018

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents.

J Child Adolesc Psychopharmacol 2017 Dec 17;27(10):908-915. Epub 2017 Aug 17.

5 Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine , Houston, Texas.

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http://dx.doi.org/10.1089/cap.2017.0068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5725633PMC
December 2017

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

Cell Mol Gastroenterol Hepatol 2016 Sep 26;2(5):663-675.e2. Epub 2016 May 26.

Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania.

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https://linkinghub.elsevier.com/retrieve/pii/S2352345X163005
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http://dx.doi.org/10.1016/j.jcmgh.2016.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042888PMC
September 2016

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

Am J Med Genet A 2016 Mar 24;170(3):750-3. Epub 2015 Dec 24.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37512DOI Listing
March 2016

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.

BMC Gastroenterol 2015 Dec 18;15:179. Epub 2015 Dec 18.

Division of Human Genetics, The Children's Hospital of Philadelphia, Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy.

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http://dx.doi.org/10.1186/s12876-015-0412-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683708PMC
December 2015

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. Epub 2015 Nov 18.

Division of Human Genetics, The Children's Hospital of Philadelphia, Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy.

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http://dx.doi.org/10.1186/s12876-015-0394-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652404PMC
November 2015

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

Gene 2016 Jan 6;576(1 Pt 3):381-4. Epub 2015 Nov 6.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.10.065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4673022PMC
January 2016

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

Am J Med Genet A 2016 Feb 13;170A(2):471-475. Epub 2015 Oct 13.

Department of Pathology and Laboratory Medicine, the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37429DOI Listing
February 2016

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 3;167A(4):891-3. Epub 2015 Mar 3.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36946DOI Listing
April 2015

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

Hum Genet 2014 Feb 9;133(2):235-43. Epub 2013 Oct 9.

Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA,

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http://dx.doi.org/10.1007/s00439-013-1368-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901047PMC
February 2014