E. Loring

发表

CLCN2 Chloride Channel Mutations in Familial Hyperaldosteronism Type II

P. Mertins, Murim Choi, R. Lifton, 2017, Nature Genetics.

Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice

B. Leventhal, J. Krystal, C. Pittenger, 2014, Neuron.

Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi

Shrikant Mane, R. Lifton, J. Overton, 2013, The Journal of investigative dermatology.

Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.

R. Lifton, A. Paller, K. Choate, 2020, American journal of human genetics.

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

S. Mane, R. Lifton, C. Tifft, 2014, Human molecular genetics.

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

Edward R. Smith, S. Mane, R. Bjornson, 2018, Neuron.

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

R. Lifton, C. Nelson-Williams, A. Paller, 2021, JAMA dermatology.

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

Hongyu Zhao, S. Mane, K. Pelphrey, 2016, eLife.

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

Edward R. Smith, Mark W. Youngblood, I. Tikhonova, 2019, Neuron.

Mutations in chromatin modifiers and Ephrin signaling components in Vein of Galen malformation

Edward R. Smith, Mark W. Youngblood, Weilai, 2019 .

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

Murim Choi, R. Lifton, U. Scholl, 2015, eLife.

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

Annabelle L. Fonseca, S. Mane, S. Libutti, 2013, Nature Genetics.

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

E. Meffre, T. Boggon, Murim Choi, 2014, Nature Genetics.

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

J. Gerrard, S. Mane, J. Simard, 2020, iScience.

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis

Roberto L. Flores, E. Rodriguez, T. Boggon, 2019, Proceedings of the National Academy of Sciences.

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

R. Lifton, C. Nelson-Williams, K. Kahle, 2017, Proceedings of the National Academy of Sciences.

Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.

R. Lifton, C. Nelson-Williams, J. Knight, 2019, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice

B. Leventhal, J. Krystal, C. Pittenger, 2014, Neuron.

L-histidine decarboxylase and Tourette's syndrome.

Judy H. Cho, Stephan J Sanders, B. O’Roak, 2010, The New England journal of medicine.

A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita

C. Nelson-Williams, M. New, J. Saland, 2018, Annals of the New York Academy of Sciences.

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation

A. Mubaidin, L. Middleton, R. Lifton, 2019, Journal of Medical Genetics.

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

Roberto L. Flores, T. Boggon, R. Lifton, 2022, Human Genetics.

CLCN2 Chloride Channel Mutations in Familial Hyperaldosteronism Type II

Murim Choi, R. Lifton, U. Scholl, 2017, Nature Genetics.

Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia

R. Lifton, K. Bilguvar, A. Paller, 2014, The Journal of investigative dermatology.

Focal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation.

K. Choate, L. Boyden, T. Zaki, 2022, Cutis.

Abstract 24: Two Locus Inheritance of Non-Syndromic Midline Craniosynostosis Via Rare SMAD6 and Common BMP2 Alleles

Hongyu Zhao, S. Mane, K. Pelphrey, 2017, Plastic and Reconstructive Surgery Global Open.