K. Chao

发表

The Genetic Landscape of Diamond-Blackfan Anemia

Beryl B. Cummings, Jacob C. Ulirsch, Michael H. Guo, 2018, bioRxiv.

The Genetic Landscape of Diamond-Blackfan Anemia

S. Gabriel, R. Handsaker, E. Lander, 2018, bioRxiv.

G. Ravenscroft, C. Bönnemann, Z. Valivullah, 2022, Journal of Medical Genetics.

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

E. Malfatti, L. Medne, C. Bönnemann, 2019, Acta Neuropathologica.

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Joshua S. Clayton, A. O’Donnell-Luria, N. Laing, 2020, Journal of Medical Genetics.

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

M. Hurles, K. Karczewski, P. Danecek, 2020, medRxiv.

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Jacqueline, A. Philippakis, M. Daly, 2022, Cell Genomics.

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

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

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Genomewide significance testing of variation from single case exomes

D. Conrad, S. Zöllner, D. Adams, 2016, Nature Genetics.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

D. Nelson, G. Herrero-Beaumont, C. Hawkins, 2019, Nature Communications.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

E. Malfatti, C. Ottenheijm, C. Bönnemann, 2020, American journal of human genetics.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

T. Siddique, S. Coppens, P. Handford, 2021, American journal of human genetics.

Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Beryl B. Cummings, D. MacArthur, S. Ellard, 2020, Human mutation.

A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes

J. Wiggs, E. Pierce, E. Place, 2021, medRxiv.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

T. Hornemann, Sita D Gupta, K. Gable, 2021, Nature Medicine.

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.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Arthur S. Lee, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

C. Toro, C. Boerkoel, W. Gahl, 2015, Journal of Medical Genetics.

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

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

The Genetic Landscape of Diamond-Blackfan Anemia.

Beryl B. Cummings, Jacob C. Ulirsch, Michael H. Guo, 2019, American journal of human genetics.

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

C. Bönnemann, T. Lehky, H. Lochmüller, 2020, American journal of medical genetics. Part A.

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

Beryl B. Cummings, C. Bönnemann, M. Schwake, 2021, EMBO molecular medicine.

Recognizable pattern of arthrogryposis and congenital myopathy caused by the recurrent TTN metatranscript-only c.39974-11T>G splice variant.

D. Horn, C. Bönnemann, T. Haack, 2022, Neuropediatrics.

Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes

A. Philippakis, D. MacArthur, B. Neale, 2021, medRxiv.

A harmonized public resource of deeply sequenced diverse human genomes

Alicia R. Martin, Lethukuthula L Nkambule, M. Daly, 2023, bioRxiv.

Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.

A. O’Donnell-Luria, M. Wojcik, W. Tan, 2019, The Journal of pediatrics.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Beryl B. Cummings, Carol J. Saunders, C. Saunders, 2019, Acta Neuropathologica.

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis

Jill A. Madden, S. Prabhu, A. Torres, 2020, American journal of medical genetics. Part A.

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

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

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

S. Mehta, A. Rötig, C. Bönnemann, 2022, HGG advances.

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.

Novel SPEG mutations in congenital myopathies: Genotype–phenotype correlations

C. Bönnemann, D. Bharucha-Goebel, P. Agrawal, 2018, Muscle & nerve.

A harmonized public resource of deeply sequenced diverse human genomes

Elizabeth G. Atkinson, Alicia R. Martin, Lethukuthula L Nkambule, 2023, bioRxiv.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

D. Nelson, G. Herrero-Beaumont, C. Hawkins, 2019, Nature Communications.

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.