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Comparison of predicted and actual consequences of missense mutations

Proceedings of the National Academy of Sciences - PNAS, 2015-09, Vol.112 (37), p.E5189-E5198

2015

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Elongator mutation in mice induces neurodegeneration and ataxia-like behavior

Nature communications, 2018-08, Vol.9 (1), p.3195-13, Article 3195

2018

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ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes

Nature immunology, 2011-05, Vol.12 (5), p.441-449

2011

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LRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertility

PLoS genetics, 2015-03, Vol.11 (3), p.e1005090-e1005090

2015

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RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertility

PLoS genetics, 2013-07, Vol.9 (7), p.e1003628-e1003628

2013

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Zinc-finger protein ZFP318 is essential for expression of IgD, the alternatively spliced Igh product made by mature B lymphocytes

Proceedings of the National Academy of Sciences - PNAS, 2014-03, Vol.111 (12), p.4513-4518

2014

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B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPL2A

The Journal of experimental medicine, 2013-01, Vol.210 (1), p.31-40

2013

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Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion

PLoS genetics, 2016-05, Vol.12 (5), p.e1006067-e1006067

2016

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An essential role for katanin p80 and microtubule severing in male gamete production

PLoS genetics, 2012-05, Vol.8 (5), p.e1002698-e1002698

2012

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RAB-like 2 has an essential role in male fertility, sperm intra-flagellar transport, and tail assembly

PLoS genetics, 2012-10, Vol.8 (10), p.e1002969-e1002969

2012

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A mutation in the viral sensor 2'-5'-oligoadenylate synthetase 2 causes failure of lactation

PLoS genetics, 2017-11, Vol.13 (11), p.e1007072

2017

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A missense mutation in the transcription factor ETV5 leads to sterility, increased embryonic and perinatal death, postnatal growth restriction, renal asymmetry and polydactyly in the mouse

PloS one, 2013-10, Vol.8 (10), p.e77311

2013

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Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations

PLoS genetics, 2013-01, Vol.9 (1), p.e1003219

2013

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Zinc finger protein Zfp335 is required for the formation of the naïve T cell compartment

eLife, 2014-10, Vol.3

2014

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Bulk segregation mapping of mutations in closely related strains of mice

Genetics (Austin), 2010-12, Vol.186 (4), p.1139-1146

2010

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Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease

PloS one, 2013-03, Vol.8 (3), p.e55429

2013

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Random mutagenesis of the mouse genome: a strategy for discovering gene function and the molecular basis of disease

American journal of physiology: Gastrointestinal and liver physiology, 2011-01, Vol.300 (1), p.G1-G11

2011

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Autoimmunity in primary antibody deficiency is associated with protein tyrosine phosphatase nonreceptor type 22 ( PTPN22 )

Journal of allergy and clinical immunology, 2013-04, Vol.131 (4), p.1130-1135.e1

2013

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mutation in a chromosome condensin II subunit, kleisin β, specifically disrupts T cell development

Proceedings of the National Academy of Sciences - PNAS, 2007-07, Vol.104 (30), p.12445-12450

2007

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Identification of phenotypically and functionally heterogeneous mouse mucosal-associated invariant T cells using MR1 tetramers

The Journal of experimental medicine, 2015-06, Vol.212 (7), p.1095-1108

2015

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Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100

Blood, 2014-11, Vol.124 (19), p.2964-2972

2014

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Direct measurement of pregnanediol 3-glucuronide (PDG) in dried urine spots by liquid chromatography-mass spectrometry to detect ovulation

The Journal of steroid biochemistry and molecular biology, 2021-07, Vol.211, p.105900-105900, Article 105900

2021

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A RING-type ubiquitin ligase family member required to repress follicular helper T cells and autoimmunity

Nature, 2005-05, Vol.435 (7041), p.452-458

2005

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Comparison of predicted and actual consequences of missense mutations

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

Elongator mutation in mice induces neurodegeneration and ataxia-like behavior

ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes

LRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertility

RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertility

Zinc-finger protein ZFP318 is essential for expression of IgD, the alternatively spliced Igh product made by mature B lymphocytes

B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPL2A

Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion

An essential role for katanin p80 and microtubule severing in male gamete production

RAB-like 2 has an essential role in male fertility, sperm intra-flagellar transport, and tail assembly

A mutation in the viral sensor 2'-5'-oligoadenylate synthetase 2 causes failure of lactation

A missense mutation in the transcription factor ETV5 leads to sterility, increased embryonic and perinatal death, postnatal growth restriction, renal asymmetry and polydactyly in the mouse

Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations

Zinc finger protein Zfp335 is required for the formation of the naïve T cell compartment

Rasgrp1 mutation increases naive T-cell CD44 expression and drives mTOR-dependent accumulation of Helios⁺ T cells and autoantibodies

Bulk segregation mapping of mutations in closely related strains of mice

Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease

Random mutagenesis of the mouse genome: a strategy for discovering gene function and the molecular basis of disease

Autoimmunity in primary antibody deficiency is associated with protein tyrosine phosphatase nonreceptor type 22 ( PTPN22 )

mutation in a chromosome condensin II subunit, kleisin β, specifically disrupts T cell development

Identification of phenotypically and functionally heterogeneous mouse mucosal-associated invariant T cells using MR1 tetramers

Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100

Direct measurement of pregnanediol 3-glucuronide (PDG) in dried urine spots by liquid chromatography-mass spectrometry to detect ovulation

A RING-type ubiquitin ligase family member required to repress follicular helper T cells and autoimmunity

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