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Education and qualifications (1)

Baylor College of Medicine: Houston, Texas, US

2016-08 to present (Molecular and Human Genetics)
Education
Source: Self-asserted source
Christopher M. Grochowski

Works (25)

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

Genome Research
2024-11 | Journal article
DOI: 10.1101/gr.279346.124
Contributors: Kristine Bilgrav Saether; Jesper Eisfeldt; Jesse D. Bengtsson; Ming Yin Lun; Christopher M. Grochowski; Medhat Mahmoud; Hsiao-Tuan Chao; Jill A. Rosenfeld; Pengfei Liu; Marlene Ek et al.
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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

Cell Genomics
2024-07 | Journal article
DOI: 10.1016/j.xgen.2024.100590
Contributors: Christopher M. Grochowski; Jesse D. Bengtsson; Haowei Du; Mira Gandhi; Ming Yin Lun; Michele G. Mehaffey; KyungHee Park; Wolfram Höps; Eva Benito; Patrick Hasenfeld et al.
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Validation of Single‐Nucleotide Mosaic Variants Through Droplet Digital PCR

Current Protocols
2024-05 | Journal article
DOI: 10.1002/cpz1.1041
Contributors: Christopher M. Grochowski; Richard A. Gibbs; Harsha Doddapaneni
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Nucleic Acids Research
2024-02-28 | Journal article
DOI: 10.1093/nar/gkad1223
Contributors: Haowei Du; Zain Dardas; Angad Jolly; Christopher M Grochowski; Shalini N Jhangiani; He Li; Donna Muzny; Jawid M Fatih; Gozde Yesil; Nursel H Elçioglu et al.
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Genome-wide maps of highly-similar intrachromosomal repeats that mediate ectopic recombination in three human genome assemblies

2024-01-31 | Preprint
DOI: 10.1101/2024.01.29.577884
Contributors: Luis Fernandez-Luna; Carlos Aguilar-Perez; Christopher M. Grochowski; Michele Mehaffey; Claudia M.B. Carvalho; Claudia Gonzaga-Jauregui
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Crossref

Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures

2023-10-03 | Preprint
DOI: 10.1101/2023.10.02.560172
Contributors: Christopher M. Grochowski; Jesse D. Bengtsson; Haowei Du; Mira Gandhi; Ming Yin Lun; Michele G. Mehaffey; KyungHee Park; Wolfram Höps; Eva Benito-Garagorri; Patrick Hasenfeld et al.
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A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

American Journal of Medical Genetics Part A
2023-03 | Journal article
DOI: 10.1002/ajmg.a.63080
Contributors: Moez Dawood; Gulsen Akay; Tadahiro Mitani; Dana Marafi; Jawid M. Fatih; Alper Gezdirici; Hossein Najmabadi; Kimia Kahrizi; Jaya Punetha; Christopher M. Grochowski et al.
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Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism

Human Mutation
2022-12 | Journal article
DOI: 10.1002/humu.24461
Contributors: Varuna Chander; Medhat Mahmoud; Jianhong Hu; Zain Dardas; Christopher M. Grochowski; Moez Dawood; Michael M. Khayat; He Li; Shoudong Li; Shalini Jhangiani et al.
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Crossref

Complex genomic rearrangements: an underestimated cause of rare diseases

Trends in Genetics
2022-11 | Journal article
DOI: 10.1016/j.tig.2022.06.003
Contributors: Jakob Schuy; Christopher M. Grochowski; Claudia M.B. Carvalho; Anna Lindstrand
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Crossref

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology
2022-08 | Journal article
DOI: 10.1002/ana.26381
Contributors: Daniel G. Calame; Isabella Herman; Reza Maroofian; Aren E. Marshall; Karina Carvalho Donis; Jawid M. Fatih; Tadahiro Mitani; Haowei Du; Christopher M. Grochowski; Sergio B. Sousa et al.
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Crossref

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

2022-04-05 | Preprint
DOI: 10.1101/2022.04.04.487055
Contributors: Moritz Smolka; Luis F. Paulin; Christopher M. Grochowski; Dominic W. Horner; Medhat Mahmoud; Sairam Behera; Ester Kalef-Ezra; Mira Gandhi; Karl Hong; Davut Pehlivan et al.
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Crossref

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

American Journal of Medical Genetics Part A
2021-12 | Journal article
DOI: 10.1002/ajmg.a.61908
Contributors: Chaofan Zhang; Juliana F. Mazzeu; Jesper Eisfeldt; Christopher M. Grochowski; Janson White; Zeynep C. Akdemir; Shalini N. Jhangiani; Donna M. Muzny; Richard A. Gibbs; Anna Lindstrand et al.
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Crossref

A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu‐mediated rearrangement in an Iraqi family with epileptic encephalopathy

American Journal of Medical Genetics Part A
2021-07 | Journal article
DOI: 10.1002/ajmg.a.62192
Contributors: Ruizhi Duan; Nebal Waill Saadi; Christopher M. Grochowski; Ghalia Bhadila; Afnan Faridoun; Tadahiro Mitani; Haowei Du; Jawid M. Fatih; Shalini N. Jhangiani; Zeynep C. Akdemir et al.
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Crossref

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

Human Mutation
2020-12-08 | Journal article
DOI: 10.1002/humu.24118
Contributors: Ximena Montenegro‐Garreaud; Adam W. Hansen; Michael M. Khayat; Varuna Chander; Christopher M. Grochowski; Yunyun Jiang; He Li; Tadahiro Mitani; Elena Kessler; Joy Jayaseelan et al.
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Crossref

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Human Mutation
2020-11 | Journal article
DOI: 10.1002/humu.24106
Contributors: Maria Pettersson; Christopher M. Grochowski; Josephine Wincent; Jesper Eisfeldt; Amy M. Breman; Sau W. Cheung; Ana C. V. Krepischi; Carla Rosenberg; James R. Lupski; Jesper Ottosson et al.
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Crossref

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

Journal of child and adolescent psychopharmacology
2017-12 | Journal article
DOI: 10.1089/cap.2017.0068
PMID: 28817303
Contributors: Gillentine MA; White JJ; Grochowski CM; Lupski JR; Schaaf CP; Calarge CA
Source: Self-asserted source
Christopher M. Grochowski via Europe PubMed Central

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

Cellular and molecular gastroenterology and hepatology
2016-09 | Journal article
DOI: 10.1016/j.jcmgh.2016.05.013
PMID: 28090565
PMC: PMC5042888
Contributors: Tsai EA; Gilbert MA; Grochowski CM; Underkoffler LA; Meng H; Zhang X; Wang MM; Shitaye H; Hankenson KD; Piccoli D et al.
Source: Self-asserted source
Christopher M. Grochowski via Europe PubMed Central

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

American journal of medical genetics. Part A
2016-03 | Journal article
DOI: 10.1002/ajmg.a.37512
PMID: 26697755
Contributors: Rajagopalan R; Grochowski CM; Gilbert MA; Falsey AM; Coleman K; Romero R; Loomes KM; Piccoli DA; Devoto M; Spinner NB
Source: Self-asserted source
Christopher M. Grochowski via Europe PubMed Central

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

American journal of medical genetics. Part A
2016-02 | Journal article
DOI: 10.1002/ajmg.a.37429
PMID: 26463753
Contributors: Izumi K; Hayashi D; Grochowski CM; Kubota N; Nishi E; Arakawa M; Hiroma T; Hatata T; Ogiso Y; Nakamura T et al.
Source: Self-asserted source
Christopher M. Grochowski via Europe PubMed Central

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

Gene
2016-01 | Journal article
DOI: 10.1016/j.gene.2015.10.065
PMID: 26548814
PMC: PMC4673022
Contributors: Grochowski CM; Loomes KM; Spinner NB
Source: Self-asserted source
Christopher M. Grochowski via Europe PubMed Central

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 gastroenterology
2015 | Journal article
DOI: 10.1186/s12876-015-0412-1
PMID: 26683620
PMC: PMC4683708
Contributors: Kelsen JR; Dawany N; Martinez A; Grochowski CM; Maurer K; Rappaport E; Piccoli DA; Baldassano RN; Mamula P; Sullivan KE et al.
Source: Self-asserted source
Christopher M. Grochowski via Europe PubMed Central

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

BMC gastroenterology
2015-11 | Journal article
DOI: 10.1186/s12876-015-0394-z
PMID: 26581487
PMC: PMC4652404
Contributors: Kelsen JR; Dawany N; Martinez A; Grochowski CM; Maurer K; Rappaport E; Piccoli DA; Baldassano RN; Mamula P; Sullivan KE et al.
Source: Self-asserted source
Christopher M. Grochowski via Europe PubMed Central

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

Human mutation
2015-06 | Journal article
DOI: 10.1002/humu.22786
PMID: 25765999
PMC: PMC4477513
Contributors: Tsai EA; Grochowski CM; Falsey AM; Rajagopalan R; Wendel D; Devoto M; Krantz ID; Loomes KM; Spinner NB
Source: Self-asserted source
Christopher M. Grochowski via Europe PubMed Central

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

American journal of medical genetics. Part A
2015-04 | Journal article
DOI: 10.1002/ajmg.a.36946
PMID: 25737299
Contributors: Grochowski CM; Rajagopalan R; Falsey AM; Loomes KM; Piccoli DA; Krantz ID; Devoto M; Spinner NB
Source: Self-asserted source
Christopher M. Grochowski via Europe PubMed Central

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

Human genetics
2014-02 | Journal article
DOI: 10.1007/s00439-013-1368-2
PMID: 24104524
PMC: PMC3901047
Contributors: Tsai EA; Grochowski CM; Loomes KM; Bessho K; Hakonarson H; Bezerra JA; Russo PA; Haber BA; Spinner NB; Devoto M
Source: Self-asserted source
Christopher M. Grochowski via Europe PubMed Central

Peer review (5 reviews for 4 publications/grants)

Review activity for Genetics in medicine open. (2)
Review activity for Genome medicine. (1)
Review activity for Life science alliance. (1)
Review activity for PLOS genetics. (1)
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