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Emily Groopman

Showing results (11-20 of 25) with videos related to

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Nature Genetics|December 6, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Science Immunology|September 16, 2022
DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signalingCassandra R Harapas, Kim S Robinson, Kenneth Lay, et al.
Annals of Internal Medicine|December 6, 2017
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot StudySneh Lata, Maddalena Marasa, Yifu Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Genome Medicine|February 19, 2026
A novel spliceosomopathy caused by de novo SF3B3 variantsLuciana Musante, Pavel Janos, Giulia Pianigiani, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Pageof 3

Showing results (11-20 of 25) with videos related to

Sort By:
Pageof 3
Nature Genetics|December 6, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Science Immunology|September 16, 2022
DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signalingCassandra R Harapas, Kim S Robinson, Kenneth Lay, et al.
Annals of Internal Medicine|December 6, 2017
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot StudySneh Lata, Maddalena Marasa, Yifu Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Genome Medicine|February 19, 2026
A novel spliceosomopathy caused by de novo SF3B3 variantsLuciana Musante, Pavel Janos, Giulia Pianigiani, et al.
Medrxiv : the Preprint Server for Health Sciences|October 9, 2023
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Pageof 3