Focus 13 July 2020

Focus on Dermatology

Genetics in Medicine is at the forefront of dermatologic genetics, informing the dermatology community of the latest progress in this fast-moving field and allowing patients to benefit from up-to-date knowledge.

Content

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia
- B. Dalmasso
- L. Pastorino
- MelaNostrum consortia
ArticleOpen Access14 Jul 2021 Genetics in Medicine
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
- Anthony R. Gregg
- Mahmoud Aarabi
- ACMG Professional Practice and Guidelines Committee
ACMG Practice Resource20 Jul 2021 Genetics in Medicine
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
- Catherine E. Cottrell
- Nicole R. Bender
- Beth A. Drolet
ArticleOpen Access26 May 2021 Genetics in Medicine
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype
- Satyamaanasa Polubothu
- Davide Zecchin
- Veronica A. Kinsler
ArticleOpen Access18 Jun 2021 Genetics in Medicine
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
- Francis Rossignol
- Marvid S. Duarte Moreno
- Manuel Schiff
Systematic Review26 May 2021 Genetics in Medicine
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
- Eric Legius
- Ludwine Messiaen
- Scott R. Plotkin
ArticleOpen Access19 May 2021 Genetics in Medicine
Dopachrome tautomerase variants in patients with oculocutaneous albinism
- Perrine Pennamen
- Angèle Tingaud-Sequeira
- Benoit Arveiler
Article26 Oct 2020 Genetics in Medicine
Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature
- Ines Kapferer-Seebacher
- Elizabeth Oakley-Hannibal
- Fleur S. van Dijk
Article2 Oct 2020 Genetics in Medicine
Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations
- Kaitlyn Zenner
- Dana M. Jensen
- James T. Bennett
Article4 Sep 2020 Genetics in Medicine
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
- Perrine Pennamen
- Linh Le
- Benoit Arveiler
Article22 Jun 2020 Genetics in Medicine
Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility
- Claire Green
- Neeti Ghali
- Fleur S. van Dijk
Article23 Jun 2020 Genetics in Medicine
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis
- Liron Malki
- Ofer Sarig
- Eli Sprecher
Article27 Apr 2020 Genetics in Medicine
CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later
- Tammy K. Stump
- Lisa G. Aspinwall
- Sancy A. Leachman
Article2 Aug 2019 Genetics in Medicine
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
- Ellen H. J. van den Bogaard
- Michel van Geel
- Patrick L. J. M. Zeeuwen
ArticleOpen Access14 Nov 2018 Genetics in Medicine

Focus on Dermatology

Content

Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Dopachrome tautomerase variants in patients with oculocutaneous albinism

Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

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

CDKN2A testing and genetic counseling promote reductions in objectively measured sun exposure one year later

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

Search

Quick links