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Recessive gene disruptions in autism spectrum disorder

Nature genetics, 2019-07, Vol.51 (7), p.1092-1098

2019

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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

American journal of human genetics, 2016-05, Vol.98 (5), p.971-980

2016

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Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency

Journal of allergy and clinical immunology, 2018-04, Vol.141 (4), p.1450-1458

2018

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Map-based cloning and characterization of BPH29, a B3 domain-containing recessive gene conferring brown planthopper resistance in rice

Journal of experimental botany, 2015-09, Vol.66 (19), p.6035-6045

2015

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Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Journal of medical genetics, 2021-08, Vol.58 (8), p.570-578

2021

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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

American journal of human genetics, 2016-09, Vol.99 (3), p.753-761

2016

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Overcoming constraints on the detection of recessive selection in human genes from population frequency data

American journal of human genetics, 2022-01, Vol.109 (1), p.33-49

2022

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Promoter mutations of an essential gene for pollen development result in disease resistance in rice

Genes & development, 2006-05, Vol.20 (10), p.1250-1255

2006

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Pathogen-induced expressional loss of function is the key factor in race-specific bacterial resistance conferred by a recessive R gene xa13 in rice

Plant and cell physiology, 2009-05, Vol.50 (5), p.947-955

2009

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Targeting xa13, a recessive gene for bacterial blight resistance in rice

Theoretical and applied genetics, 2006-02, Vol.112 (3), p.455-461

2006

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series of eIF4E alleles at the Bc-3 locus are associated with recessive resistance to Clover yellow vein virus in common bean

Theoretical and applied genetics, 2013-11, Vol.126 (11), p.2849-2863

2013

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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

European journal of human genetics : EJHG, 2018-06, Vol.26 (6), p.912-918

2018

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Single Nucleotide Polymorphisms in a Gene for Translation Initiation Factor (eIF4G) of Rice (Oryza sativa) Associated with Resistance to Rice tungro spherical virus

Molecular plant-microbe interactions, 2010, Vol.23 (1), p.29-38

2010

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Genetic analysis and molecular mapping of a novel recessive gene xa34(t) for resistance against Xanthomonas oryzae pv. oryzae

Theoretical and applied genetics, 2011-05, Vol.122 (7), p.1331-1338

2011

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Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

American journal of human genetics, 2002-03, Vol.70 (3), p.726-736

2002

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High-resolution mapping of zym, a recessive gene for Zucchini yellow mosaic virus resistance in cucumber

Theoretical and applied genetics, 2013-12, Vol.126 (12), p.2983-2993

2013

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Fine mapping of the recessive genic male-sterile gene (Bnms1) in Brassica napus L

Theoretical and applied genetics, 2006-08, Vol.113 (4), p.643-650

2006

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Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss

Gene, 2013-12, Vol.532 (2), p.276-280

2013

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Genetic control of broad-spectrum resistance to turnip mosaic virus in Brassica rapa (Chinese cabbage)

Journal of general virology, 2007-11, Vol.88 (11), p.3177-3186

2007

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Positional cloning of ds1, the target leaf spot resistance gene against Bipolaris sorghicola in sorghum

Theoretical and applied genetics, 2011-06, Vol.123 (1), p.131-142

2011

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Fine mapping of a palea defective 1 (pd1), a locus associated with palea and stamen development in rice

Plant cell reports, 2015-12, Vol.34 (12), p.2151-2159

2015

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30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

American journal of human genetics, 2021-05, Vol.108 (5), p.764-785

2021

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The CONTROL study: A randomized, double-blind vehicle-controlled phase 2b study of novel topical isotretinoin formulation demonstrates improvement in recessive X-linked and autosomal recessive lamellar congenital ichthyosis

Journal of the American Academy of Dermatology, 2022-12, Vol.87 (6), p.1455-1458

2022

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Ciliopathies

Cold Spring Harbor perspectives in biology, 2017-03, Vol.9 (3), p.a028191

2017

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Recessive gene disruptions in autism spectrum disorder

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency

Map-based cloning and characterization of BPH29, a B3 domain-containing recessive gene conferring brown planthopper resistance in rice

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

ZNF341 controls STAT3 expression and thereby immunocompetence

Overcoming constraints on the detection of recessive selection in human genes from population frequency data

Promoter mutations of an essential gene for pollen development result in disease resistance in rice

Pathogen-induced expressional loss of function is the key factor in race-specific bacterial resistance conferred by a recessive R gene xa13 in rice

Targeting xa13, a recessive gene for bacterial blight resistance in rice

series of eIF4E alleles at the Bc-3 locus are associated with recessive resistance to Clover yellow vein virus in common bean

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

Single Nucleotide Polymorphisms in a Gene for Translation Initiation Factor (eIF4G) of Rice (Oryza sativa) Associated with Resistance to Rice tungro spherical virus

Genetic analysis and molecular mapping of a novel recessive gene xa34(t) for resistance against Xanthomonas oryzae pv. oryzae

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

High-resolution mapping of zym, a recessive gene for Zucchini yellow mosaic virus resistance in cucumber

Fine mapping of the recessive genic male-sterile gene (Bnms1) in Brassica napus L

Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss

Genetic control of broad-spectrum resistance to turnip mosaic virus in Brassica rapa (Chinese cabbage)

Positional cloning of ds1, the target leaf spot resistance gene against Bipolaris sorghicola in sorghum

Fine mapping of a palea defective 1 (pd1), a locus associated with palea and stamen development in rice

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

The CONTROL study: A randomized, double-blind vehicle-controlled phase 2b study of novel topical isotretinoin formulation demonstrates improvement in recessive X-linked and autosomal recessive lamellar congenital ichthyosis

Ciliopathies

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