Volume 29 Issue 1, January 2021

Obituary

Obituary | 16 December 2020

GertJan B. van Ommen 28 September 1947–7 November 2020
- Mary Rice

Article

Article | 05 August 2020

Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes
- Adriana Kater-Kuipers
- , Iris M. Bakkeren
- & Eline M. Bunnik
Article | 31 July 2020 | Open Access

Demographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands
- Reinder Broekstra
- , Judith Aris-Meijer
- & Sabine Otten
Article | 30 July 2020

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies
- Kim Elsink
- , Manon M. H. Huibers
- & Mariëlle E. van Gijn
Article | 12 August 2020 | Open Access

Perceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation
- Regina Müller
- , Ali A. Aghdassi
- & Sabine Salloch
Article | 09 August 2020 | Open Access

How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples
- Ivy van Dijke
- , Phillis Lakeman
- & Lidewij Henneman

Brief Communication

Brief Communication | 29 August 2020

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
- Samantha J. Bryen
- , Emily C. Oates
- & Sandra T. Cooper

Article

Article | 10 October 2020

Regulatory landscape of providing information on newborn screening to parents across Europe
- Věra Franková
- , Riona O. Driscoll
- & Katrin Õunap
Article | 16 July 2020

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
- Edwin P. Kirk
- , Royston Ong
- & Martin B. Delatycki
Collection:
- Editor's Choice
Article | 08 July 2020 | Open Access

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
- Elisabetta Di Fede
- , Valentina Massa
- & Cristina Gervasini
Article | 26 June 2020

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
- Olivier Quenez
- , Kevin Cassinari
- & Gaël Nicolas
Article | 09 July 2020 | Open Access

Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
- Deepak Babu
- , Silvia Vannelli
- & Mara Giordano
Article | 08 July 2020

Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing
- Jiayao Wang
- , Priyanka R. Ahimaz
- & Wendy K. Chung
Article | 31 July 2020

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
- Marion Aubert-Mucca
- , Julie Pernin-Grandjean
- & Julie Plaisancié
Article | 28 August 2020 | Open Access

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
- Aida M. Bertoli-Avella
- , Christian Beetz
- & Peter Bauer
Collection:
- Editor's Choice
Article | 01 September 2020

Sex-specific genetic effects across biomarkers
- Emily Flynn
- , Yosuke Tanigawa
- & Manuel A. Rivas
Article | 07 July 2020 | Open Access

Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third
- Péter L. Nagy
- , Judit Olasz
- & Miklós Kásler
Collection:
- Editor's Choice
Article | 29 August 2020 | Open Access

Genetic modifiers in rare disorders: the case of fragile X syndrome
- Hayley Crawford
- , Gaia Scerif
- & Joseph McCleery
Article | 28 July 2020 | Open Access

Contributions of de novo variants to systemic lupus erythematosus
- Jonas Carlsson Almlöf
- , Sara Nystedt
- & Ann-Christine Syvänen
Article | 03 September 2020

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study
- Sumin Zhao
- , Wanyang Wang
- & Zhiyu Peng
Article | 10 August 2020 | Open Access

Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents
- Dinka Smajlagić
- , Ksenia Lavrichenko
- & Stefan Johansson

Volume 29 Issue 1, January 2021

Obituary

GertJan B. van Ommen 28 September 1947–7 November 2020

Article

Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes

Demographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

Perceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation

How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples

Brief Communication

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

Article

Regulatory landscape of providing information on newborn screening to parents across Europe

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency

Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Sex-specific genetic effects across biomarkers

Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third

Genetic modifiers in rare disorders: the case of fragile X syndrome

Contributions of de novo variants to systemic lupus erythematosus

NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study

Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents

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Volume 29 Issue 1, January 2021

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