Christopher M.
Grochowski, PhD

GREGoR: accelerating genomics for rare diseases

Dawood M, Heavner B, Wheeler MM, … Grochowski CM (Consortium Authorship) … GREGoR Consortium

Nature. 2025 Nov;647(8089):331–342.

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

Wang Y, Sams EI, … Posey JE, Grochowski CM, … Turner TN

Genome Medicine. 2025 Oct 24;17(1):129.

Structural variants: mechanisms, mapping, and interpretation in human genetics

Pande S, Dawood M, Grochowski CM

Genes. 2025 Aug;16(8):905.

The Somatic Mosaicism across Human Tissues Network

Coorens THH, … Grochowski CM (Consortium Authorship) … SMaHT Network

Nature. 2025 Jan 9;643(8070):47–59.

Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies

Fernandez-Luna L, Aguilar-Perez C, Grochowski CM, Mehaffey MG, Carvalho CMB, & Gonzaga-Jauregui C

HGG Advances. 2025;6(2):100396.

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

Dardas Z, Marafi D, … Grochowski CM, … Lupski JR

European Journal of Human Genetics. 2025 Mar;33(2):231–238.

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

Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, … Carvalho CMB

Genome Medicine. 2024 Dec 18;16(1):146.

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

Bilgrav Saether K, Eisfeldt J, … Grochowski CM, … Lindstrand A

Genome Research. 2024 Nov 20;34(11):1785–1797.

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

Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, Höps W, Benito E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Hwang JP, Bhamidipati SV, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, Juul S, Lindstrand A, Sedlazeck FJ, Pehlivan D, Lupski JR, Carvalho CMB

Cell Genomics. 2024 Jul 10;4(7):100590.

Validation of Single-Nucleotide Mosaic Variants Through Droplet Digital PCR

Grochowski CM, Gibbs RA, Doddapaneni H

Current Protocols. 2024 May;4(5):e1041.

Detection of mosaic and population-level structural variants with Sniffles2

Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, … Sedlazeck FJ

Nature Biotechnology. 2024 Jan 2.

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

Du H, Dardas Z, Jolly A, Grochowski CM, … Lupski JR

Nucleic Acids Research. 2024;52(4):e18.

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis

Boschann F, Cogulu O, Pehlivan D, … Grochowski CM, … Schmidt J

Genetics in Medicine. 2023 May;25(5):100799.

Complex genomic rearrangements: an underestimated cause of rare diseases

Schuy J, Grochowski CM, Carvalho CMB, Lindstrand A

Trends in Genetics. 2022;38(11):1134–1146.

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

Du H*, Jolly A*, Grochowski CM*, Yuan B, Dawood M, … Liu P

Genome Medicine. 2022;14(1):122. *Equal contribution

Chromothriptic event implicates a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome

Grochowski CM, Krepischi ACV, Eisfeldt J, Du H, Bertola DR, Oliveira D, Costa SS, Lupski JR, Lindstrand A & Carvalho CMB

Frontiers in Genetics. 2021;12:1478.

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Pettersson M*, Grochowski CM*, Wincent J, Eisfeldt J, Breman AM, Cheung SW, … Lindstrand A. *Equal contribution

Human Mutation. 2020;41(11):1979–1998.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Paine I*, Posey JE*, Grochowski CM, Jhangiani SN, … Lupski JR. *Equal contribution

American Journal of Human Genetics. 2019;105(2):302–316.

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

Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB

Human Mutation. 2018;39(7):939–946.

Jagged1 (JAG1): Structure, Expression, and Disease Associations

Grochowski CM, Loomes KM & Spinner NB

Gene. 2016;576(1):381–384.

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

Grochowski CM, Rajagopalan R, Falsey AM, Loomes KM, Piccoli DA, Krantz ID, Devoto M & Spinner NB

American Journal of Medical Genetics Part A. 2014;167(4):891–893.