Christopher M. Grochowski

ScholarGPS® ID: 81541182231158

Affiliation
Baylor College of Medicine, Houston, United States
Affiliation History

Field
Life Sciences
Discipline
Genetics
Top Specialties
Mutation | Human Mutation | Medical Genetics | Atresia
Metrics Summary
Publication Count
33
Predicted Citations
925
Predicted h-index
18
Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

  • Publications
  • Books
  • Patents
  • NIH/NSF
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A combination of long and short read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements (journal article)
Schuy, Jakob | Sæther, Kristine Bilgrav | Lisfeld, Jasmin | Ek, Marlene | Grochowski, Christopher M. | Lun, Ming Yin | Hastie, Alex | Rudolph, Susanne | Fuchs, Sigrid | Neveling, Kornelia | ... | Lindstrand, Anna
Genetics in Medicine Open (2024).
10.1016/j.gimo.2024.101863
Cite | Source
Validation of Single‐Nucleotide Mosaic Variants Through Droplet Digital PCR (journal article)
Grochowski, Christopher M. | Gibbs, Richard A. | Doddapaneni, Harsha
Current Protocols, volume 4, issue 5 (2024).
10.1002/cpz1.1041
Cite | Source
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy (journal article)
Dardas, Zain | Fatih, Jawid M. | Jolly, Angad | Dawood, Moez | Du, Haowei | Grochowski, Christopher M. | Jones, Edward G. | Jhangiani, Shalini N. | Wehrens, Xander H. T. | Liu, Pengfei | ... | Morris, Shaine A.
Genome Medicine, volume 16, issue 1 (2024).
10.1186/s13073-024-01312-9
Cite | Source
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data (journal article)
Du, Haowei | Dardas, Zain | Jolly, Angad | Grochowski, Christopher M | Jhangiani, Shalini N | Li, He | Muzny, Donna | Fatih, Jawid M | Yesil, Gozde | Elçioglu, Nursel H | ... | Lupski, James R
Nucleic Acids Research, volume 52, issue 4, pages e18-e18 (2024).
10.1093/nar/gkad1223
Cited by (1) | Cite | Source
Detection of mosaic and population-level structural variants with Sniffles2 (journal article)
Smolka, Moritz | Paulin, Luis F. | Grochowski, Christopher M. | Horner, Dominic W. | Mahmoud, Medhat | Behera, Sairam | Kalef-Ezra, Ester | Gandhi, Mira | Hong, Karl | Pehlivan, Davut | ... | Sedlazeck, Fritz J.
Nature Biotechnology (2024).
10.1038/s41587-023-02024-y
Cited by (24) | Cite | Source
Complex genomic rearrangements: an underestimated cause of rare diseases (journal article)
Schuy, Jakob | Grochowski, Christopher M. | Carvalho, Claudia M.B. | Lindstrand, Anna
Trends in Genetics, volume 38, issue 11, pages 1134-1146 (2022).
10.1016/j.tig.2022.06.003
Cited by (20) | Cite | Source
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome (journal article)
Penon‐Portmann, Monica | Eldomery, Mohammad K. | Potocki, Lorraine | Marafi, Dana | Posey, Jennifer E. | Coban‐Akdemir, Zeynep | Harel, Tamar | Grochowski, Christopher M. | Loucks, Hailey | Devine, Walter Patrick | ... | Shieh, Joseph T.
American Journal of Medical Genetics Part A, volume 188, issue 8, pages 2360-2366 (2022).
10.1002/ajmg.a.62872
Cited by (3) | Cite | Source
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome (journal article)
Zhang, Chaofan | Mazzeu, Juliana F. | Eisfeldt, Jesper | Grochowski, Christopher M. | White, Janson | Akdemir, Zeynep C. | Jhangiani, Shalini N. | Muzny, Donna M. | Gibbs, Richard A. | Lindstrand, Anna | ... | Carvalho, Claudia M. B.
American Journal of Medical Genetics Part A, volume 185, issue 12, pages 3593-3600 (2021).
10.1002/ajmg.a.61908
Cited by (17) | Cite | Source
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome (journal article)
Abdala, Bianca Barbosa | Gonçalves, Andressa Pereira | dos Santos, Jussara Mendonça | Boy, Raquel | de Carvalho, Claudia Marcia Benedetto | Grochowski, Christopher M. | Krepischi, Ana Cristina Victorino | Rosenberg, Carla | Gusmão, Leonor | Pehlivan, Davut | ... | Santos-Rebouças, Cíntia Barros
European Journal of Medical Genetics, volume 64, issue 12, pages 104367- (2021).
10.1016/j.ejmg.2021.104367
Cited by (3) | Cite | Source
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome (journal article)
Grochowski, Christopher M. | Krepischi, Ana C. V. | Eisfeldt, Jesper | Du, Haowei | Bertola, Debora R. | Oliveira, Danyllo | Costa, Silvia S. | Lupski, James R. | Lindstrand, Anna | Carvalho, Claudia M. B.
Frontiers in Genetics, volume 12 (2021).
10.3389/fgene.2021.708348
Cited by (5) | Cite | Source
A novel homozygous SLC13A5 whole‐gene deletion generated by Alu/Alu ‐mediated rearrangement in an Iraqi family with epileptic encephalopathy (journal article)
Duan, Ruizhi | Saadi, Nebal Waill | Grochowski, Christopher M. | Bhadila, Ghalia | Faridoun, Afnan | Mitani, Tadahiro | Du, Haowei | Fatih, Jawid M. | Jhangiani, Shalini N. | Akdemir, Zeynep C. | ... | Lupski, James R.
American Journal of Medical Genetics Part A, volume 185, issue 7, pages 1972-1980 (2021).
10.1002/ajmg.a.62192
Cited by (14) | Cite | Source
Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases (journal article)
Montenegro‐Garreaud, Ximena | Hansen, Adam W. | Khayat, Michael M. | Chander, Varuna | Grochowski, Christopher M. | Jiang, Yunyun | Li, He | Mitani, Tadahiro | Kessler, Elena | Jayaseelan, Joy | ... | Gibbs, Richard A.
Human Mutation, volume 41, issue 12, pages 2094-2104 (2020).
10.1002/humu.24118
Cited by (9) | Cite | Source
Cytogenetically visible inversions are formed by multiple molecular mechanisms (journal article)
Pettersson, Maria | Grochowski, Christopher M. | Wincent, Josephine | Eisfeldt, Jesper | Breman, Amy M. | Cheung, Sau W. | Krepischi, Ana C. V. | Rosenberg, Carla | Lupski, James R. | Ottosson, Jesper | ... | Lindstrand, Anna
Human Mutation, volume 41, issue 11, pages 1979-1998 (2020).
10.1002/humu.24106
Cited by (14) | Cite | Source
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions (journal article)
Gambin, Tomasz | Liu, Qian | Karolak, Justyna A. | Grochowski, Christopher M. | Xie, Nina G. | Wu, Lucia R. | Yan, Yan Helen | Cao, Ye | Coban Akdemir, Zeynep H. | Wilson, Theresa A. | ... | Stankiewicz, Paweł
Genetics in Medicine, volume 22, issue 11, pages 1768-1776 (2020).
10.1038/s41436-020-0897-z
Cited by (28) | Cite | Source
Parental somatic mosaicism for CNV deletions – A need for more sensitive and precise detection methods in clinical diagnostics settings (journal article)
Liu, Qian | Karolak, Justyna A. | Grochowski, Christopher M. | Wilson, Theresa A. | Rosenfeld, Jill A. | Bacino, Carlos A. | Lalani, Seema R. | Patel, Ankita | Breman, Amy | Smith, Janice L. | ... | Stankiewicz, Pawel
Genomics, volume 112, issue 5, pages 2937-2941 (2020).
10.1016/j.ygeno.2020.05.003
Cited by (14) | Cite | Source
Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation (journal article)
Coban‐Akdemir, Zeynep H. | Charng, Wu‐Lin | Azamian, Mahshid | Paine, Ingrid S. | Punetha, Jaya | Grochowski, Christopher M. | Gambin, Tomasz | Valdes, Santiago O. | Cannon, Bryan | Zapata, Gladys | ... | Lalani, Seema R.
American Journal of Medical Genetics Part A, volume 182, issue 6, pages 1387-1399 (2020).
10.1002/ajmg.a.61571
Cited by (19) | Cite | Source
Quantitative Assessment of Parental Somatic Mosaicism for Copy‐Number Variant (CNV) Deletions (journal article)
Liu, Qian | Grochowski, Christopher M. | Bi, Weimin | Lupski, James R. | Stankiewicz, Paweł
Current Protocols in Human Genetics, volume 106, issue 1 (2020).
10.1002/cphg.99
Cited by (9) | Cite | Source
Protein‐elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease (journal article)
Gilbert, Melissa A. | Schultz‐Rogers, Laura | Rajagopalan, Ramakrishnan | Grochowski, Christopher M. | Wilkins, Benjamin J. | Biswas, Sawona | Conlin, Laura K. | Fiorino, Kristin N. | Dhamija, Radhika | Pack, Michael A. | ... | Spinner, Nancy B.
Human Mutation, volume 41, issue 5, pages 973-982 (2020).
10.1002/humu.23986
Cited by (17) | Cite | Source
Exome Sequencing in Individuals with Isolated Biliary Atresia (journal article)
Rajagopalan, Ramakrishnan | Tsai, Ellen A. | Grochowski, Christopher M. | Kelly, Susan M. | Loomes, Kathleen M. | Spinner, Nancy B. | Devoto, Marcella
Scientific Reports, volume 10, issue 1 (2020).
10.1038/s41598-020-59379-4
Cited by (13) | Cite | Source
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism (journal article)
Gunning, Adam C. | Strucinska, Klaudia | Muñoz Oreja, Mikel | Parrish, Andrew | Caswell, Richard | Stals, Karen L. | Durigon, Romina | Durlacher-Betzer, Karina | Cunningham, Mitchell H. | Grochowski, Christopher M. | ... | Ellard, Sian
The American Journal of Human Genetics, volume 106, issue 2, pages 272-279 (2020).
10.1016/j.ajhg.2020.01.007
Cited by (31) | Cite | Source