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The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency

Human mutation, 2021-02, Vol.42 (2), p.216-217

2021

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Type of PKD1 Mutation Influences Renal Outcome in ADPKD

Journal of the American Society of Nephrology, 2013-06, Vol.24 (6), p.1006-1013

2013

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Gene conversion: mechanisms, evolution and human disease

Nature reviews. Genetics, 2007-10, Vol.8 (10), p.762-775

2007

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Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On

Human mutation, 2014-12, Vol.35 (12), p.1393-1406

2014

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Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele

Transfusion (Philadelphia, Pa.), 2018-06, Vol.58 (6), p.1540-1549

2018

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Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

Human mutation, 2012-08, Vol.33 (8), p.1239-1250

2012

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Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis

Human mutation, 2022-02, Vol.43 (2), p.228-239

2022

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Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression

Transfusion (Philadelphia, Pa.), 2021-08, Vol.61 (8), p.2468-2476

2021

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Chronic pancreatitis: genetics and pathogenesis

Annual review of genomics and human genetics, 2009-09, Vol.10 (1), p.63-87

2009

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The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis

Human mutation, 2021-04, Vol.42 (4), p.385-391

2021

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Competing endogenous RNA network analysis of the molecular mechanisms of ischemic stroke

BMC genomics, 2023-02, Vol.24 (1), p.67-67, Article 67

2023

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5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity

Human mutation, 2020-08, Vol.41 (8), p.1358-1364

2020

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Expanding ACMG variant classification guidelines into a general framework

Human genomics, 2022-08, Vol.16 (1), p.1-31, Article 31

2022

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Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

Human mutation, 2010-06, Vol.31 (6), p.631-655

2010

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Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia

Transfusion (Philadelphia, Pa.), 2020-10, Vol.60 (10), p.2419-2431

2020

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On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

Human mutation, 2011-10, Vol.32 (10), p.1075-1099

2011

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First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

Human mutation, 2019-10, Vol.40 (10), p.1856-1873

2019

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Effect of an indwelling nasogastric tube on swallowing function in elderly post-stroke dysphagia patients with long-term nasal feeding

BMC neurology, 2019-05, Vol.19 (1), p.83-83, Article 83

2019

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Influence of High-Frequency Repetitive Transcranial Magnetic Stimulation on Neurobehavioral and Electrophysiology in Patients with Disorders of Consciousness

Neural plasticity, 2022-11, Vol.2022, p.7195699-13

2022

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A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients

PloS one, 2013-08, Vol.8 (8), p.e73522-e73522

2013

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Genomic rearrangements in inherited disease and cancer

Seminars in cancer biology, 2010-08, Vol.20 (4), p.222-233

2010

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The Application of Eight-Segment Pulmonary Rehabilitation Exercise in People With Coronavirus Disease 2019

Frontiers in physiology, 2020-05, Vol.11, p.646-646

2020

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Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene

Human mutation, 2017-12, Vol.38 (12), p.1660-1665

2017

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Identification of a functional enhancer variant within the chronic pancreatitis‐associated SPINK1 c.101A>G (p.Asn34Ser)‐containing haplotype

Human mutation, 2017-08, Vol.38 (8), p.1014-1024

2017

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The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency

Type of PKD1 Mutation Influences Renal Outcome in ADPKD

Gene conversion: mechanisms, evolution and human disease

Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On

Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele

Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients

Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis

Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression

Chronic pancreatitis: genetics and pathogenesis

The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis

Competing endogenous RNA network analysis of the molecular mechanisms of ischemic stroke

5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity

Expanding ACMG variant classification guidelines into a general framework

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia

A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

Effect of an indwelling nasogastric tube on swallowing function in elderly post-stroke dysphagia patients with long-term nasal feeding

Influence of High-Frequency Repetitive Transcranial Magnetic Stimulation on Neurobehavioral and Electrophysiology in Patients with Disorders of Consciousness

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients

Genomic rearrangements in inherited disease and cancer

The Application of Eight-Segment Pulmonary Rehabilitation Exercise in People With Coronavirus Disease 2019

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene

Identification of a functional enhancer variant within the chronic pancreatitis‐associated SPINK1 c.101A>G (p.Asn34Ser)‐containing haplotype

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