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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

The New England journal of medicine, 2015-09, Vol.373 (11), p.1010-1020

2015

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An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

Haemophilia : the official journal of the World Federation of Hemophilia, 2019-07, Vol.25 (4), p.558-566

2019

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Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature

Clinical case reports, 2024-01, Vol.12 (1), p.e8307-n/a

2024

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P450: Single cell RNA-seq analysis of skin tissue from individuals with hypermobile Ehlers-Danlos syndrome

Genetics in Medicine Open, 2024, Vol.2, p.101344, Article 101344

2024

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Androgen-Binding Protein (Abp) Evolutionary History: Has Positive Selection Caused Fixation of Different Paralogs in Different Taxa of the Genus Mus?

Genome biology and evolution, 2021-10, Vol.13 (10)

2021

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Human rDNA copy number is unstable in metastatic breast cancers

Epigenetics, 2020-02, Vol.15 (1-2), p.85-106

2020

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Did androgen-binding protein paralogs undergo neo- and/or Subfunctionalization as the Abp gene region expanded in the mouse genome?

PloS one, 2014-12, Vol.9 (12), p.e115454-e115454

2014

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The roles of gene duplication, gene conversion and positive selection in rodent Esp and Mup pheromone gene families with comparison to the Abp family

PloS one, 2012-10, Vol.7 (10), p.e47697

2012

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Selection shaped the evolution of mouse androgen-binding protein (ABP) function and promoted the duplication of Abp genes

Biochemical Society transactions, 2014-08, Vol.42 (4), p.851

2014

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Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2012-2025

2021

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P266: Heterozygous variant of TGFB3 in a patient with an atypical phenotype of Loeys-Dietz syndrome

Genetics in Medicine Open, 2023, Vol.1 (1), p.100294, Article 100294

2023

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P264: Case report: NFIA-related disorder caused by inherited missense mutations leading to variable presentations among family members

Genetics in Medicine Open, 2023, Vol.1 (1), p.100292, Article 100292

2023

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P254: An isolated ELN gene mutation in a patient with a complicated presentation of hypermobility

Genetics in Medicine Open, 2023, Vol.1 (1), p.100282, Article 100282

2023

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DFMO: Targeted risk reduction therapy for colorectal neoplasia

Baillière's best practice & research. Clinical gastroenterology, 2011-08, Vol.25 (4), p.495-506

2011

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Congenic strain analysis reveals genes that are rapidly evolving components of a prezygotic isolation mechanism mediating incipient reinforcement

PloS one, 2012-04, Vol.7 (4), p.e35898-e35898

2012

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Positive selection shaped the convergent evolution of independently expanded kallikrein subfamilies expressed in mouse and rat saliva proteomes

PloS one, 2011-06, Vol.6 (6), p.e20979-e20979

2011

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Physician practices in evaluation and treatment of patients with generalized joint hypermobility and bleeding

Blood coagulation & fibrinolysis, 2021-12, Vol.32 (8), p.591

2021

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P115: Biallelic variations in ATP13A2 manifesting with a complicated motor neuron disease phenotype

Genetics in Medicine Open, 2023, Vol.1 (1), p.100144, Article 100144

2023

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Studies of an Androgen-Binding Protein Knockout Corroborate a Role for Salivary ABP in Mouse Communication

Genetics (Austin), 2017-04, Vol.205 (4), p.1517-1527

2017

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The role of retrotransposons in gene family expansions: insights from the mouse Abp gene family

BMC evolutionary biology, 2013-05, Vol.13, p.107

2013

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Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer

Molecular genetics & genomic medicine, 2016-03, Vol.4 (2), p.232-236

2016

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Reinforcement selection acting on the European house mouse hybrid zone

Molecular ecology, 2011-06, Vol.20 (11), p.2403-2424

2011

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The Role of Retrotransposons in Gene Family Expansions in the Human and Mouse Genomes

Genome biology and evolution, 2016-09, Vol.8 (9), p.2632-2650

2016

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Genetics for the General Internist

The American journal of medicine, 2012-01, Vol.125 (1), p.7-13

Laukaitis, Christina M., MD, PhD

2012

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A candidate subspecies discrimination system involving a vomeronasal receptor gene with different alleles fixed in M. m. domesticus and M. m. musculus

PloS one, 2010-09, Vol.5 (9), p.e12638

2010

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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature

P450: Single cell RNA-seq analysis of skin tissue from individuals with hypermobile Ehlers-Danlos syndrome

Androgen-Binding Protein (Abp) Evolutionary History: Has Positive Selection Caused Fixation of Different Paralogs in Different Taxa of the Genus Mus?

Human rDNA copy number is unstable in metastatic breast cancers

Did androgen-binding protein paralogs undergo neo- and/or Subfunctionalization as the Abp gene region expanded in the mouse genome?

The roles of gene duplication, gene conversion and positive selection in rodent Esp and Mup pheromone gene families with comparison to the Abp family

Selection shaped the evolution of mouse androgen-binding protein (ABP) function and promoted the duplication of Abp genes

Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

P266: Heterozygous variant of TGFB3 in a patient with an atypical phenotype of Loeys-Dietz syndrome

P264: Case report: NFIA-related disorder caused by inherited missense mutations leading to variable presentations among family members

P254: An isolated ELN gene mutation in a patient with a complicated presentation of hypermobility

DFMO: Targeted risk reduction therapy for colorectal neoplasia

Congenic strain analysis reveals genes that are rapidly evolving components of a prezygotic isolation mechanism mediating incipient reinforcement

Positive selection shaped the convergent evolution of independently expanded kallikrein subfamilies expressed in mouse and rat saliva proteomes

Physician practices in evaluation and treatment of patients with generalized joint hypermobility and bleeding

P115: Biallelic variations in ATP13A2 manifesting with a complicated motor neuron disease phenotype

Studies of an Androgen-Binding Protein Knockout Corroborate a Role for Salivary ABP in Mouse Communication

The role of retrotransposons in gene family expansions: insights from the mouse Abp gene family

Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer

Reinforcement selection acting on the European house mouse hybrid zone

The Role of Retrotransposons in Gene Family Expansions in the Human and Mouse Genomes

Genetics for the General Internist

A candidate subspecies discrimination system involving a vomeronasal receptor gene with different alleles fixed in M. m. domesticus and M. m. musculus

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