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Forever young: stem cell and plant regeneration one century after Haberlandt 1921

Protoplasma, 2022, Vol.259 (1), p.3-18

2022

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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Genetics in medicine, 2018-04, Vol.20 (4), p.435-443

2018

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PE/PPE proteins mediate nutrient transport across the outer membrane of Mycobacterium tuberculosis

Science (American Association for the Advancement of Science), 2020-03, Vol.367 (6482), p.1147-1151

2020

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Whole-genome sequencing of quartet families with autism spectrum disorder

Nature medicine, 2015-02, Vol.21 (2), p.185-191

2015

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BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma

Journal of clinical oncology, 2015-03, Vol.33 (9), p.1015-1022

2015

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Identification of deleterious synonymous variants in human genomes

Bioinformatics, 2013-08, Vol.29 (15), p.1843-1850

2013

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Research ethics recommendations for whole-genome research: consensus statement

PLoS biology, 2008-03, Vol.6 (3), p.e73-e73

2008

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PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Human mutation, 2013-08, Vol.34 (8), p.1057-1065

2013

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Orkambi® and amplifier co‐therapy improves function from a rare CFTR mutation in gene‐edited cells and patient tissue

EMBO molecular medicine, 2017-09, Vol.9 (9), p.1224-1243

2017

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Recurrent Focal Copy-Number Changes and Loss of Heterozygosity Implicate Two Noncoding RNAs and One Tumor Suppressor Gene at Chromosome 3q13.31 in Osteosarcoma

Cancer research (Chicago, Ill.), 2010, Vol.70 (1), p.160-171

2010

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Elastic and Irreversible Bending of Tree and Shrub Branches Under Cantilever Loads

Frontiers in plant science, 2019-02, Vol.10, p.59-59

2019

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Subgroup-Specific Prognostic Implications of TP53 Mutation in Medulloblastoma

Journal of clinical oncology, 2013-08, Vol.31 (23), p.2927-2935

2013

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Universal Poor Survival in Children With Medulloblastoma Harboring Somatic TP53 Mutations

Journal of clinical oncology, 2010-03, Vol.28 (8), p.1345-1350

2010

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Fragment library design, synthesis and expansion: nurturing a synthesis and training platform

Drug discovery today, 2017-01, Vol.22 (1), p.43-56

2017

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Respiratory flexibility in response to inhibition of cytochrome C oxidase in Mycobacterium tuberculosis

Antimicrobial agents and chemotherapy, 2014-11, Vol.58 (11), p.6962-6965

2014

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Expression of mung bean pectin acetyl esterase in potato tubers: effect on acetylation of cell wall polymers and tuber mechanical properties

Planta, 2012-07, Vol.236 (1), p.185-197

2012

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Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

Npj genomic medicine, 2016-01, Vol.1 (1), p.15012-15012, Article 15012

2016

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Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB

European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.775-778

2017

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Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

Human molecular genetics, 2019-01, Vol.28 (2), p.290-306

2019

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Identification of Morpholino Thiophenes as Novel Mycobacterium tuberculosis Inhibitors, Targeting QcrB

Journal of medicinal chemistry, 2018-08, Vol.61 (15), p.6592-6608

2018

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Inhibiting Mycobacterium tuberculosis CoaBC by targeting an allosteric site

Nature communications, 2021-01, Vol.12 (1), p.143-143, Article 143

2021

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TP53 Alterations Determine Clinical Subgroups and Survival of Patients With Choroid Plexus Tumors

Journal of clinical oncology, 2010-04, Vol.28 (12), p.1995-2001

2010

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Cryocampsis: a biophysical freeze-bending response of shrubs and trees under snow loads

PNAS nexus, 2022-09, Vol.1 (4), p.pgac131-pgac131

2022

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Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?

Thorax, 2014-03, Vol.69 (3), p.254-260

2014

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Eye and Brain Abnormalities in Congenital Muscular Dystrophies Caused by Fukutin-Related Protein Gene (FKRP) Mutations

Pediatric neurology, 2013-11, Vol.49 (5), p.374-378

2013

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Forever young: stem cell and plant regeneration one century after Haberlandt 1921

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

PE/PPE proteins mediate nutrient transport across the outer membrane of Mycobacterium tuberculosis

Whole-genome sequencing of quartet families with autism spectrum disorder

BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade glioma

Identification of deleterious synonymous variants in human genomes

Research ethics recommendations for whole-genome research: consensus statement

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Orkambi® and amplifier co‐therapy improves function from a rare CFTR mutation in gene‐edited cells and patient tissue

Recurrent Focal Copy-Number Changes and Loss of Heterozygosity Implicate Two Noncoding RNAs and One Tumor Suppressor Gene at Chromosome 3q13.31 in Osteosarcoma

Elastic and Irreversible Bending of Tree and Shrub Branches Under Cantilever Loads

Subgroup-Specific Prognostic Implications of TP53 Mutation in Medulloblastoma

Universal Poor Survival in Children With Medulloblastoma Harboring Somatic TP53 Mutations

Fragment library design, synthesis and expansion: nurturing a synthesis and training platform

Respiratory flexibility in response to inhibition of cytochrome C oxidase in Mycobacterium tuberculosis

Expression of mung bean pectin acetyl esterase in potato tubers: effect on acetylation of cell wall polymers and tuber mechanical properties

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

Identification of Morpholino Thiophenes as Novel Mycobacterium tuberculosis Inhibitors, Targeting QcrB

Inhibiting Mycobacterium tuberculosis CoaBC by targeting an allosteric site

TP53 Alterations Determine Clinical Subgroups and Survival of Patients With Choroid Plexus Tumors

Cryocampsis: a biophysical freeze-bending response of shrubs and trees under snow loads

Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?

Eye and Brain Abnormalities in Congenital Muscular Dystrophies Caused by Fukutin-Related Protein Gene (FKRP) Mutations

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