Volume 141, Issue 1

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January 2022

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11 articles in this issue

A review of migraine genetics: gathering genomic and transcriptomic factors
Andreia Dias
Tiago Mariz
Miguel Alves-Ferreira
Review 22 October 2021 Pages: 1 - 14
PRNCR1: a long non-coding RNA with a pivotal oncogenic role in cancer
Abhishek Bardhan
Anwesha Banerjee
Amlan Ghosh
Review 02 November 2021 Pages: 15 - 29
Differential fates of introns in gene expression due to global alternative splicing
Anjani Kumari
Saam Sedehizadeh
Marzena Wojciechowska
Review Open access 14 December 2021 Pages: 31 - 47
ASTL is mutated in female infertility
Sateesh Maddirevula
Serdar Coskun
Fowzan S. Alkuraya
Original Investigation 26 October 2021 Pages: 49 - 54
Mitochondrial “dysmorphology” in variant classification
Hanan E. Shamseldin
Amal Alhashem
Fowzan S. Alkuraya
Original Investigation 08 November 2021 Pages: 55 - 64
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault
Anne-Marie Guerrot
François Lecoquierre
Original Investigation 08 November 2021 Pages: 65 - 80
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population
Ali Mir
Montaha Almudhry
Yousef Housawi
Original Investigation 19 November 2021 Pages: 81 - 99
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
Mohamed H. Al-Hamed
Wesam Kurdi
Faiqa Imtiaz
Original Investigation 01 December 2021 Pages: 101 - 126
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation
R. J. Longchamps
S. Y. Yang
D. E. Arking
Original Investigation Open access 02 December 2021 Pages: 127 - 146
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
Chiara Fallerini
Nicola Picchiotti
Simone Furini
Original Investigation Open access 10 December 2021 Pages: 147 - 173
Retraction Note to: Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes
Michael Nothnagel
Guangyao Fan
Lutz Roewer
Retraction Note 11 December 2021 Pages: 175 - 176

Volume 141, Issue 1

A review of migraine genetics: gathering genomic and transcriptomic factors

PRNCR1: a long non-coding RNA with a pivotal oncogenic role in cancer

Differential fates of introns in gene expression due to global alternative splicing

ASTL is mutated in female infertility

Mitochondrial “dysmorphology” in variant classification

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes

Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

Retraction Note to: Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes

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