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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

American journal of human genetics, 2016-08, Vol.99 (2), p.337-351

2016

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Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

American journal of human genetics, 2014-01, Vol.94 (1), p.135-143

2014

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The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

Brain (London, England : 1878), 2011-12, Vol.134 (12), p.3527-3543

2011

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Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness

PloS one, 2021-09, Vol.16 (9), p.e0256846-e0256846

2021

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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American journal of human genetics, 2018-11, Vol.103 (5), p.777-785

2018

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Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies

Cancer gene therapy, 2022-06, Vol.29 (6), p.697-708

2022

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Lysophosphatidic acid receptor LPAR6 supports the tumorigenicity of hepatocellular carcinoma

Cancer research (Chicago, Ill.), 2015-02, Vol.75 (3), p.532-543

2015

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Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study

PloS one, 2019-03, Vol.14 (3), p.e0213381-e0213381

2019

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G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

Nature genetics, 2008-03, Vol.40 (3), p.329-334

2008

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Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

American journal of human genetics, 2012-11, Vol.91 (5), p.906-911

2012

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Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

Journal of Medical Genetics, 2012-09, Vol.49 (9), p.547-553

2012

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UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan

Journal of dermatological science, 2019-09, Vol.95 (3), p.113-118

2019

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A woman with hyperpigmented macules and papules

Journal der Deutschen Dermatologischen Gesellschaft, 2021-11, Vol.19 (11), p.1656-1660

2021

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Androgenetic Alopecia: Identification of Four Genetic Risk Loci and Evidence for the Contribution of WNT Signaling to Its Etiology

Journal of investigative dermatology, 2013-06, Vol.133 (6), p.1489-1496

2013

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Genetic lessons learned from pathogenic variants in KRT1

Journal of the European Academy of Dermatology and Venereology, 2022-10, Vol.36 (10), p.1683-1684

Betz, Regina C.

2022

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Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

American journal of human genetics, 2012-10, Vol.91 (4), p.754-759

2012

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Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

American journal of human genetics, 2013-01, Vol.92 (1), p.81-87

2013

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Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2

PloS one, 2019-12, Vol.14 (12), p.e0225943-e0225943

2019

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Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

American journal of human genetics, 2006-03, Vol.78 (3), p.510-519

2006

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Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata

Journal of investigative dermatology, 2018-03, Vol.138 (3), p.549-556

2018

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Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

Genetics in medicine, 2020-07, Vol.22 (7), p.1227-1234

2020

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Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

Journal of investigative dermatology, 2017-05, Vol.137 (5), p.1176-1179

2017

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IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

American journal of human genetics, 2009-04, Vol.84 (4), p.459-467

2009

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A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31

PloS one, 2015-06, Vol.10 (6), p.e0129811-e0129811

2015

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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Lysophosphatidic acid receptor LPAR6 supports the tumorigenicity of hepatocellular carcinoma

Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan

A woman with hyperpigmented macules and papules

Androgenetic Alopecia: Identification of Four Genetic Risk Loci and Evidence for the Contribution of WNT Signaling to Its Etiology

Genetic lessons learned from pathogenic variants in KRT1

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2

Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31

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