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Christopher M Grochowski

Showing results (11-20 of 72) with videos related to

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American Journal of Medical Genetics. Part A|March 5, 2015
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndromeChristopher M Grochowski, Ramakrishnan Rajagopalan, Alexandra M Falsey, et al.
Biorxiv : the Preprint Server for Biology|June 22, 2026
Somatic variant detection in normal tissues from single-cell sequencing dataRui Luo, Ziyi Wang, Jinzhuang Dou, et al.
Genome Research|March 25, 2026
Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencingKristine Bilgrav Saether, Angelo Salazar Mantero, Marlene Ek, et al.
Human Mutation|March 14, 2015
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresiaEllen A Tsai, Christopher M Grochowski, Alexandra M Falsey, et al.
Biorxiv : the Preprint Server for Biology|January 23, 2026
Expanding the Genome in a Bottle Truth Set: Detection and Validation of Novel Low-frequency Variants Using High-accuracy NanoSeqYang Zhang, Hsu Chao, Muchun Niu, et al.
American Journal of Medical Genetics. Part A|December 25, 2015
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomaliesRamakrishnan Rajagopalan, Christopher M Grochowski, Melissa A Gilbert, et al.
BMC Gastroenterology|December 20, 2015
Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case reportJudith R Kelsen, Noor Dawany, Alejandro Martinez, et al.
Human Genetics|October 10, 2013
Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresiaEllen A Tsai, Christopher M Grochowski, Kathleen M Loomes, et al.
Biorxiv : the Preprint Server for Biology|September 26, 2025
Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractionsYuwei Zhang, Adam C English, Luis F Paulin, et al.
Frontiers in Genetics|September 13, 2021
Chromoanagenesis Event Underlies a <i>de novo</i> Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris SyndromeChristopher M Grochowski, Ana C V Krepischi, Jesper Eisfeldt, et al.
Pageof 8

Showing results (11-20 of 72) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part A|March 5, 2015
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndromeChristopher M Grochowski, Ramakrishnan Rajagopalan, Alexandra M Falsey, et al.
Biorxiv : the Preprint Server for Biology|June 22, 2026
Somatic variant detection in normal tissues from single-cell sequencing dataRui Luo, Ziyi Wang, Jinzhuang Dou, et al.
Genome Research|March 25, 2026
Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencingKristine Bilgrav Saether, Angelo Salazar Mantero, Marlene Ek, et al.
Human Mutation|March 14, 2015
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresiaEllen A Tsai, Christopher M Grochowski, Alexandra M Falsey, et al.
Biorxiv : the Preprint Server for Biology|January 23, 2026
Expanding the Genome in a Bottle Truth Set: Detection and Validation of Novel Low-frequency Variants Using High-accuracy NanoSeqYang Zhang, Hsu Chao, Muchun Niu, et al.
American Journal of Medical Genetics. Part A|December 25, 2015
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomaliesRamakrishnan Rajagopalan, Christopher M Grochowski, Melissa A Gilbert, et al.
BMC Gastroenterology|December 20, 2015
Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case reportJudith R Kelsen, Noor Dawany, Alejandro Martinez, et al.
Human Genetics|October 10, 2013
Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresiaEllen A Tsai, Christopher M Grochowski, Kathleen M Loomes, et al.
Biorxiv : the Preprint Server for Biology|September 26, 2025
Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractionsYuwei Zhang, Adam C English, Luis F Paulin, et al.
Frontiers in Genetics|September 13, 2021
Chromoanagenesis Event Underlies a <i>de novo</i> Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris SyndromeChristopher M Grochowski, Ana C V Krepischi, Jesper Eisfeldt, et al.
Pageof 8