S. DiTroia

发表

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study

A. Noor, Y. Bombard, S. Horsburgh, 2020, Journal of Medical Genetics.

seqr: A web‐based analysis and collaboration tool for rare disease genomics

D. MacArthur, H. Rehm, A. O’Donnell-Luria, 2022, Human mutation.

GGPS1 ‐associated muscular dystrophy with and without hearing loss

F. Muntoni, R. Maroofian, H. Houlden, 2022, Annals of clinical and translational neurology.

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

H. Rehm, H. Lerche, H. Bolz, 2021, Human molecular genetics.

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2020, HGG advances.

Maternal vitamin C regulates reprogramming of DNA methylation and germline development

M. Guerquin, G. Livera, M. Ramalho-Santos, 2019, Nature.

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Mahshid S. Azamian, S. Scherer, J. Rosenfeld, 2022, Human mutation.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

Expanding the phenotypic spectrum in RDH12-associated retinal disease

S. Mukai, E. Pierce, R. Huckfeldt, 2020, Cold Spring Harbor molecular case studies.

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

Ryan L. Collins, K. Garimella, Maura Costello, 2021, The Journal of experimental medicine.

seqr: A web‐based analysis and collaboration tool for rare disease genomics

H. Rehm, A. O’Donnell-Luria, B. Weisburd, 2021, medRxiv.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Maternal vitamin C regulates reprogramming of DNA methylation and germline development

M. Guerquin, G. Livera, M. Ramalho-Santos, 2019, Nature.

Germline GATA1s generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype.

A. Cantor, E. Kjeldsen, H. Hasle, 2021, Blood.

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

F. Muntoni, Silvio Alessandro Di Gioia, A. O’Donnell-Luria, 2022, Human mutation.

The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK)

E. Pierce, E. England, E. Place, 2021, medRxiv.

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

E. Tan, G. Mochida, M. Al-Saffar, 2021, European Journal of Human Genetics.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

Julius O. B. Jacobsen, Fullerton, Azza, 2023, medRxiv.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Tiong, Kinga, A. O’Donnell-Luria, 2023, medRxiv.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.