Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism Zainab Al MasseriMashael AlqahtaniFowzan S. Alkuraya Editorial 24 January 2024 Pages: 101 - 105
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility Zhiqi PanWeijie WangBiaobang Chen Original Investigation 22 January 2024
Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges Carlos H. M. RodriguesStephanie PortelliDavid B. Ascher Short Communication Open access 16 January 2024
Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population Lin LiuYuzhou XueJin Chen Original Investigation 06 January 2024 Pages: 137 - 149
Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution Muneera J. AlshammariHanan E. ShamseldinFowzan S. Alkuraya Original Investigation 05 January 2024 Pages: 59 - 69
Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease Xinfeng WangMengling QiHuiying Zhao Original Investigation 05 January 2024 Pages: 49 - 58
Predicting the impact of rare variants on RNA splicing in CAGI6 Jenny LordCarolina Jaramillo OquendoDiana Baralle Original Investigation Open access 03 January 2024
Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia Mohamed AbouelhodaNoura AlmuqatiFowzan S. Alkuraya Original Investigation 30 December 2023 Pages: 125 - 136
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection Bryan L. DinhEcho TangCharleston W. K. Chiang Original Article Open access 29 December 2023 Pages: 85 - 99
Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding Giuditta Dal CortivoValerio MarinoDaniele Dell’Orco Short Communication 28 December 2023
Regulation potential of transcribed simple repeated sequences in developing neurons Tek Hong ChungAnna ZhuravskayaEugene V. Makeyev Original Investigation Open access 28 December 2023
Protein-centric omics integration analysis identifies candidate plasma proteins for multiple autoimmune diseases Yingxuan ChenShuai LiuZhongshang Yuan Original Investigation Open access 24 December 2023
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals Ariane SchmetzHermann-Josef LüdeckeDagmar Wieczorek Original Investigation 20 December 2023 Pages: 71 - 84
Unraveling phenotypic variance in metabolic syndrome through multi-omics Lamessa Dube AmenteNatalie T MillsS. Hong Lee Original Investigation 14 December 2023 Pages: 35 - 47
An emerging link between lncRNAs and cancer sex dimorphism Ikrame NaciriMaria D. Andrade-LudenaSha Sun Review Open access 14 December 2023
Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure Jiaqiong LinZhihong WuFu Xiong Original Investigation 06 December 2023
Genetics and epigenetics of diabetes and its complications in India Ankita PriyadarshiniRiya MadanSadhan Das Review 24 November 2023 Pages: 1 - 17
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases Yuki HitomiKazuko UenoMinoru Nakamura Original Investigation 23 November 2023 Pages: 19 - 33
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants Itay Tokatly LatzerJean-Baptiste RoulletPhillip L. Pearl Original Investigation 14 November 2023 Pages: 1755 - 1776
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage Sandra MartinsAshraf YahiaJorge Sequeiros Original Investigation Open access 14 November 2023 Pages: 1747 - 1754
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project Feifan XiaoBingbing WuWenhao Zhou Original Investigation 08 November 2023 Pages: 1737 - 1745
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs) Edoardo GiuiliRobin GrolauxMatthieu Defrance Original Investigation Open access 27 October 2023 Pages: 1721 - 1735
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia Shujun ZengShuangyin LeiPing Huang Review 25 October 2023 Pages: 1677 - 1703
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster Meghna SinghSarah J. SpendloveValerie A. Arboleda Original Investigation Open access 20 October 2023 Pages: 1705 - 1720
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias Daniela FelÃcioTanguy Rubat du MéracSandra Martins Review Open access 16 October 2023 Pages: 1651 - 1676
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism Wanxue XuLacey PlummerMargaret F. Lippincott Original Investigation 07 October 2023 Pages: 1611 - 1619
Long noncoding RNAs as versatile molecular regulators of cellular stress response and homeostasis Julia ScholdaThi Thuy Anh NguyenFlorian Kopp Review Open access 02 October 2023
Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects Huizhen FanZhou ZhouLei Wang Original Investigation 28 September 2023 Pages: 1621 - 1631
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation Shiyi WangXinpeng DengYi Huang Review 28 September 2023 Pages: 1633 - 1649
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration Kari J. EkenstedtKatie M. MinorJames R. Mickelson Original Investigation Open access 27 September 2023 Pages: 1587 - 1601
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence Karina C. SilveiraInara Chacon FonsecaPeter Kannu Original Investigation Open access 27 September 2023 Pages: 1571 - 1586
Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective Zijun ZhuXinyu ChenXue Zhang Review 27 September 2023 Pages: 1543 - 1560
N6-methyladenosine modified lncRNAs signature for stratification of biochemical recurrence in prostate cancer Yingke LiangWenjun YinJianming Lu Original Investigation 27 September 2023
Circulating DNA reveals a specific and higher fragmentation of the Y chromosome Alain R. ThierryCynthia SanchezEkaterina Pisareva Original Investigation 25 September 2023 Pages: 1603 - 1609
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study Youngjun KimJeong-Min KimMi-Hyun Park Original Investigation Open access 20 September 2023 Pages: 1561 - 1569
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes Sarah W. CurtisJenna C. CarlsonElizabeth J. Leslie Original Investigation 07 September 2023 Pages: 1531 - 1541
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review Charles L. FordWilliam J. RiggsVassili Valayannopoulos Review Open access 07 September 2023 Pages: 1429 - 1449
Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins Cheuk Yan ChungDora Jue PanKwong Wai Choy Original Investigation 05 September 2023 Pages: 1519 - 1529
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct Isabelle RouxCristina Fenollar-FerrerAndrew J. Griffith Original Investigation Open access 05 September 2023 Pages: 1499 - 1517
A founder DBR1 variant causes a lethal form of congenital ichthyosis Hanan E. ShamseldinMukunth SadagopanFowzan S. Alkuraya Original Investigation 01 September 2023 Pages: 1491 - 1498
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts Mohammad Yaser AnwarMariaelisa GraffKari E. North Original Investigation 01 September 2023 Pages: 1477 - 1489
Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs Julian Daniel Sunday WillettTianyuan LuJ. Brent Richards Original Investigation Open access 28 August 2023 Pages: 1461 - 1476
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm Takeshi SugimotoHidehito InagakiHiroki Kurahashi Original Investigation Open access 24 August 2023 Pages: 1451 - 1460
Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics Kathleen MorrillFrances ChenElinor Karlsson Review 14 August 2023 Pages: 1231 - 1246
Non-coding RNAs as skin disease biomarkers, molecular signatures, and therapeutic targets Andrea Roso-MaresIsabel AndújarBryan K. Sun Review 14 August 2023
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia Guido Zagnoli-VieiraJan BrazinaHilde Van Esch Original Investigation Open access 10 August 2023 Pages: 1417 - 1427
Genomics and inclusion of Indigenous peoples in high income countries Kylie GwynneShirley JiangTom Calma Original Investigation Open access 21 July 2023 Pages: 1407 - 1416
Editorial for the Neurogenetics and Neurogenomics special issue Elaine T. LimYingleong Chan Editorial 21 July 2023 Pages: 997 - 999
Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants Ajay SubramanianShengqin SuMichael Sargent Binkley Original Investigation 20 July 2023 Pages: 1395 - 1405
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency Tess LevyThariana PichardoJoseph D. Buxbaum Original Investigation Open access 16 July 2023 Pages: 1385 - 1394