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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Human genetics, 2016-04, Vol.135 (4), p.441-450

2016

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Comprehensive Genetic Analysis of Complement and Coagulation Genes in Atypical Hemolytic Uremic Syndrome

Journal of the American Society of Nephrology, 2014-01, Vol.25 (1), p.55-64

2014

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C3 glomerulopathy - understanding a rare complement-driven renal disease

Nature reviews. Nephrology, 2019-03, Vol.15 (3), p.129-143

2019

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The hearing-impaired patient: what the future holds

Human genetics, 2022-04, Vol.141 (3-4), p.307-310

Smith, Richard J. H.

2022

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Microbial formation of labile organic carbon in Antarctic glacial environments

Nature geoscience, 2017-05, Vol.10 (5), p.356-359

2017

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Neoadjuvant chemotherapy in breast cancer-response evaluation and prediction of response to treatment using dynamic contrast-enhanced and diffusion-weighted MR imaging

European radiology, 2011-06, Vol.21 (6), p.1188-1199

2011

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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

Proceedings of the National Academy of Sciences - PNAS, 2010-12, Vol.107 (49), p.21104-21109

2010

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Relationship between dissolved organic matter quality and microbial community composition across polar glacial environments

FEMS microbiology ecology, 2018-07, Vol.94 (7)

2018

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Gene therapy for hearing loss

Human molecular genetics, 2019-10, Vol.28 (R1), p.R65-R79

2019

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Foxn1 regulates lineage progression in cortical and medullary thymic epithelial cells but is dispensable for medullary sublineage divergence

PLoS genetics, 2011-11, Vol.7 (11), p.e1002348-e1002348

2011

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Thematic accuracy of the NLCD 2001 land cover for the conterminous United States

Remote sensing of environment, 2010-06, Vol.114 (6), p.1286-1296

2010

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A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse

PLoS genetics, 2012-10, Vol.8 (10), p.e1002966

2012

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Body plethysmography – Its principles and clinical use

Respiratory medicine, 2011-07, Vol.105 (7), p.959-971

2011

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On-microscope staging of live cells reveals changes in the dynamics of transcriptional bursting during differentiation

Nature communications, 2022-11, Vol.13 (1), p.6641-6641, Article 6641

2022

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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

PloS one, 2017-03, Vol.12 (3), p.e0169219-e0169219

2017

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Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

American journal of human genetics, 2009-04, Vol.84 (4), p.505-510

2009

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Seeing shapes in seemingly random spatial patterns: Fractal analysis of Rorschach inkblots

PloS one, 2017-02, Vol.12 (2), p.e0171289-e0171289

2017

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Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)

Journal of medical genetics, 2006-07, Vol.43 (7), p.582-589

2006

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Efficacy and safety of OK-432 immunotherapy of lymphatic malformations

The Laryngoscope, 2009-01, Vol.119 (1), p.107-115

2009

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Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct ( DFNB4)

American journal of human genetics, 2007-06, Vol.80 (6), p.1055-1063

2007

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HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice

PLoS genetics, 2015-03, Vol.11 (3), p.e1005137-e1005137

2015

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C3 glomerulopathy associated with monoclonal Ig is a distinct subtype

Kidney international, 2018-07, Vol.94 (1), p.178-186

2018

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Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome

American journal of human genetics, 2009-05, Vol.84 (5), p.651-657

2009

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Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion

Kidney international, 2012-03, Vol.81 (5), p.434-441

2012

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Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy

The Journal of immunology (1950), 2018-04, Vol.200 (7), p.2464-2478

2018

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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Comprehensive Genetic Analysis of Complement and Coagulation Genes in Atypical Hemolytic Uremic Syndrome

C3 glomerulopathy - understanding a rare complement-driven renal disease

The hearing-impaired patient: what the future holds

Microbial formation of labile organic carbon in Antarctic glacial environments

Neoadjuvant chemotherapy in breast cancer-response evaluation and prediction of response to treatment using dynamic contrast-enhanced and diffusion-weighted MR imaging

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

Relationship between dissolved organic matter quality and microbial community composition across polar glacial environments

Gene therapy for hearing loss

Foxn1 regulates lineage progression in cortical and medullary thymic epithelial cells but is dispensable for medullary sublineage divergence

Thematic accuracy of the NLCD 2001 land cover for the conterminous United States

A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse

Body plethysmography – Its principles and clinical use

On-microscope staging of live cells reveals changes in the dynamics of transcriptional bursting during differentiation

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

Seeing shapes in seemingly random spatial patterns: Fractal analysis of Rorschach inkblots

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)

Efficacy and safety of OK-432 immunotherapy of lymphatic malformations

Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct ( DFNB4)

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice

C3 glomerulopathy associated with monoclonal Ig is a distinct subtype

Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome

Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion

Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy

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