Christopher M. Grochowski

Biochemistry, Genetics and Molecular BiologyAgricultural and Biological SciencesMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 5%percentile

0.434Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

Genome Medicine(2025)10.1186/s13073-025-01563-0

Top 58%

0.269DataRank

Top 58%5 citations

Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy +66 more

Papers

Driven by 27 papers — median percentile 36. Top paper: “Beyond the exome: What’s next in diagnostic testing for Mendelian conditions”.

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009

N/A

2.2DataRank · unranked

123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 more

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Genome Medicine(2024)10.1186/s13073-024-01411-7

N/A

0.474DataRank · unranked

17 citations

Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi +38 more

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

Genome Medicine(2025)10.1186/s13073-025-01563-0

Top 58%

0.269DataRank

Top 58%5 citations

Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy +66 more

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.10.13.681545

Top 70%

0.165DataRank

Top 70%2 citations

Dominika Maziec, Julia Markowski, Stephanie Georges, Nancy L. Parmalee, Michele Berselli +41 more

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

Human Mutation(2020)10.1002/humu.24118

N/A

0DataRank · unranked

18 citations

Adam Hansen, Michael M. Khayat, Varuna Chander, Christopher M. Grochowski, Yunyun Jiang +21 more

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Human Mutation(2020)10.1002/humu.24106

N/A

0DataRank · unranked

27 citations

Christopher M. Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M. Breman, Sau Wai Cheung +11 more

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.009

N/A

0DataRank · unranked

102 citations

Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih +44 more

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.07.006

N/A

0DataRank · unranked

13 citations

Nina Kozar, Ruizhi Duan, stephen bradley, Kenji Yokochi, Fuad Al Mutairi +35 more

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)10.1002/ana.26381

N/A

0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 more

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis

Genetics in Medicine(2022)10.1016/j.gim.2022.07.012

N/A

0DataRank · unranked

4 citations

Özgür Çoğulu, Davut Pehli̇van, Saranya Balachandran, Pedro Vallecillo-García, Christopher M. Grochowski +19 more

Comprehensive Structural Variant Detection: From Mosaic to Population-Level

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.04.487055

N/A

0DataRank · unranked

97 citations

Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera +9 more

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Nucleic Acids Research(2023)10.1093/nar/gkad1223

N/A

0DataRank · unranked

10 citations

Zain Dardas, Angad Jolly, Christopher M. Grochowski, Shalini N. Jhangiani, He Li +14 more

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

Genetics in Medicine(2020)10.1038/s41436-020-0897-z

N/A

0DataRank · unranked

63 citations

Qian Liu, Justyna A. Karolak, Christopher M. Grochowski, Nina Guanyi Xie, Lucia R. Wu +16 more

Detection of mosaic and population-level structural variants with Sniffles2

Nature Biotechnology(2024)10.1038/s41587-023-02024-y

N/A

0DataRank · unranked

448 citations

Luis F. Paulin, Christopher M. Grochowski, Dominic W. Horner, Medhat Mahmoud, Sairam Behera +9 more

Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

Cell Genomics(2024)10.1016/j.xgen.2024.100590

N/A

0DataRank · unranked

33 citations

Jesse D. Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G. Mehaffey +22 more

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

Genome Medicine(2024)10.1186/s13073-024-01312-9

N/A

0DataRank · unranked

15 citations

Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski +13 more

Validation of Single‐Nucleotide Mosaic Variants Through Droplet Digital PCR

Current Protocols(2024)10.1002/cpz1.1041

N/A

0DataRank · unranked

3 citations

Richard A. Gibbs, HarshaVardhan Doddapaneni, Christopher M. Grochowski

Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32

European Journal of Human Genetics(2024)10.1038/s41431-024-01680-1

N/A

0DataRank · unranked

8 citations

Dana Marafi, Ruizhi Duan, Jawid M. Fatih, Omnia Fathy El-Rashidy, Christopher M. Grochowski +10 more

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

Genome Research(2024)10.1101/gr.279346.124

N/A

0DataRank · unranked

13 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +17 more

Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

medRxiv(2024)10.1101/2024.04.22.24305780

N/A

0DataRank · unranked

1 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +14 more

Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32

Research Square(2024)10.21203/rs.3.rs-3949622/v1

N/A

0DataRank · unranked

0 citations

Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid M. Fatih, Omnia Fathy El-Rashidy +10 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractions

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.09.18.677206

N/A

0DataRank · unranked

5 citations

Adam C. English, Luis F. Paulin, Christopher M. Grochowski, Surabhi Maheshwari, Taralynn Mack +7 more

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

Genetics in Medicine(2023)10.1016/j.gim.2023.101034

N/A

0DataRank · unranked

8 citations

Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona +28 more

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

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.01.007

N/A

0DataRank · unranked

52 citations

Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen Stals +24 more

Exome Sequencing in Individuals with Isolated Biliary Atresia

Scientific Reports(2020)10.1038/s41598-020-59379-4

N/A

0DataRank · unranked

20 citations

Ellen Tsai, Christopher M. Grochowski, Susan M. Kelly, Kathleen M. Loomes, Nancy B. Spinner +2 more

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

Genomics(2020)10.1016/j.ygeno.2020.05.003

N/A

0DataRank · unranked

18 citations

Justyna A. Karolak, Christopher M. Grochowski, Theresa A. Wilson, Jill A. Rosenfeld, Carlos A. Bacino +9 more

Christopher M. Grochowski

Indexed papers

Top data-sharing exemplar

Papers