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Research | 27 January 2021
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease
Journal of Human Genetics , 1–7

Rights & permissionsfor article Clinical characterization and further confirmation of the autosomal recessive <i>SLC12A2</i> disease . Opens in a new window.
Research | 25 January 2021
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
- Rafik Tadros
- , Catherine Francis
- , Xiao Xu
- , Alexa M. C. Vermeer
- , Andrew R. Harper
- , Roy Huurman
- , Ken Kelu Bisabu
- , Roddy Walsh
- , Edgar T. Hoorntje
- , Wouter P. te Rijdt
- , Rachel J. Buchan
- , Hannah G. van Velzen
- , Marjon A. van Slegtenhorst
- , Jentien M. Vermeulen
- , Joost Allard Offerhaus
- , Wenjia Bai
- , Antonio de Marvao
- , Najim Lahrouchi
- , Leander Beekman
- , Jacco C. Karper
- , Jan H. Veldink
- , Elham Kayvanpour
- , Antonis Pantazis
- , A. John Baksi
- , Nicola Whiffin
- , Francesco Mazzarotto
- , Geraldine Sloane
- , Hideaki Suzuki
- , Deborah Schneider-Luftman
- , Paul Elliott
- , Pascale Richard
- , Flavie Ader
- , Eric Villard
- , Peter Lichtner
- , Thomas Meitinger
- , Michael W. T. Tanck
- , J. Peter van Tintelen
- , Andrew Thain
- , David McCarty
- , Robert A. Hegele
- , Jason D. Roberts
- , Julie Amyot
- , Marie-Pierre Dubé
- , Julia Cadrin-Tourigny
- , Geneviève Giraldeau
- , Philippe L. L’Allier
- , Patrick Garceau
- , Jean-Claude Tardif
- , S. Matthijs Boekholdt
- , R. Thomas Lumbers
- , Folkert W. Asselbergs
- , Paul J. R. Barton
- , Stuart A. Cook
- , Sanjay K. Prasad
- , Declan P. O’Regan
- , Jolanda van der Velden
- , Karin J. H. Verweij
- , Mario Talajic
- , Guillaume Lettre
- , Yigal M. Pinto
- , Benjamin Meder
- , Philippe Charron
- , Rudolf A. de Boer
- , Imke Christiaans
- , Michelle Michels
- , Arthur A. M. Wilde
- , Hugh Watkins
- , Paul M. Matthews
- , James S. Ware
- & Connie R. Bezzina
Nature Genetics , 1–7

Rights & permissionsfor article Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect . Opens in a new window.
Research | 23 January 2021
Pregnant women’s opinions toward prenatal pretest genetic counseling in Japan
- Miyuki Nishiyama
- , Kohei Ogawa
- , Fuyuki Hasegawa
- , Yuki Sekido
- , Aiko Sasaki
- , Rina Akaishi
- , Yoshiyuki Tachibana
- , Nagayoshi Umehara
- , Seiji Wada
- , Nobuaki Ozawa
- & Haruhiko Sago
Journal of Human Genetics , 1–11

Rights & permissionsfor article Pregnant women’s opinions toward prenatal pretest genetic counseling in Japan . Opens in a new window.
Research | 17 January 2021
Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child’s future autonomy
- Aad Tibben
- , Wybo Dondorp
- , Candice Cornelis
- , Nine Knoers
- , Eva Brilstra
- , Marieke van Summeren
- & Ineke Bolt
European Journal of Human Genetics , 1–9

Rights & permissionsfor article Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child’s future autonomy . Opens in a new window.
Research | 16 January 2021
The genetic landscape of polycystic kidney disease in Ireland
- Katherine A. Benson
- , Susan L. Murray
- , Sarah R. Senum
- , Elhussein Elhassan
- , Eoin T. Conlon
- , Claire Kennedy
- , Shane Conlon
- , Edmund Gilbert
- , Dervla Connaughton
- , Paul O’Hara
- , Sarah Khamis
- , Sarah Cormican
- , Lawrence C. Brody
- , Anne M. Molloy
- , Sally Ann Lynch
- , Liam Casserly
- , Matthew D. Griffin
- , Robert Carton
- , Kevin Yachnin
- , Peter C. Harris
- , Gianpiero L. Cavalleri
- & Peter Conlon
European Journal of Human Genetics , 1–12

Rights & permissionsfor article The genetic landscape of polycystic kidney disease in Ireland . Opens in a new window.
Research | 12 January 2021 | Open
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
- Meena Balasubramanian
- , Alexander J. M. Dingemans
- , Shadi Albaba
- , Ruth Richardson
- , Thabo M. Yates
- , Helen Cox
- , Sofia Douzgou
- , Ruth Armstrong
- , Francis H. Sansbury
- , Katherine B. Burke
- , Andrew E. Fry
- , Nicola Ragge
- , Saba Sharif
- , Alison Foster
- , Annachiara De Sandre-Giovannoli
- , Sahar Elouej
- , Pradeep Vasudevan
- , Sahar Mansour
- , Kate Wilson
- , Helen Stewart
- , Solveig Heide
- , Caroline Nava
- , Boris Keren
- , Serwet Demirdas
- , Alice S. Brooks
- , Marie Vincent
- , Bertrand Isidor
- , Sebastien Küry
- , Meyke Schouten
- , Erika Leenders
- , Wendy K. Chung
- , Arie van Haeringen
- , Thomas Scheffner
- , Francois-Guillaume Debray
- , Susan M. White
- , Maria Irene Valenzuela Palafoll
- , Rolph Pfundt
- , Ruth Newbury-Ecob
- & Tjitske Kleefstra
European Journal of Human Genetics , 1–12

Rights & permissionsfor article Comprehensive study of 28 individuals with <i>SIN3A</i>-related disorder underscoring the associated mild cognitive and distinctive facial phenotype . Opens in a new window.
Research | 11 January 2021 | Open
Early impact of donor CYP3A5 genotype and Graft-to-Recipient Weight Ratio on tacrolimus pharmacokinetics in pediatric liver transplant patients
Scientific Reports 11 , 1–13

Rights & permissionsfor article Early impact of donor <i>CYP3A5</i> genotype and Graft-to-Recipient Weight Ratio on tacrolimus pharmacokinetics in pediatric liver transplant patients . Opens in a new window.
Research | 12 January 2021
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
- Amali C. Mallawaarachchi
- , Ben Lundie
- , Yvonne Hort
- , Nicole Schonrock
- , Sarah R. Senum
- , Velimir Gayevskiy
- , Andre E. Minoche
- , Georgina Hollway
- , Thomas Ohnesorg
- , Marcus Hinchcliffe
- , Chirag Patel
- , Michel Tchan
- , Andrew Mallett
- , Marcel E. Dinger
- , Gopala Rangan
- , Mark J. Cowley
- , Peter C. Harris
- , Leslie Burnett
- , John Shine
- & Timothy J. Furlong
European Journal of Human Genetics , 1–11

Rights & permissionsfor article Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing . Opens in a new window.
Research | 7 January 2021 | Open
Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders
European Journal of Human Genetics , 1–9

Rights & permissionsfor article Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders . Opens in a new window.
Research | 4 January 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
- Yoel Hirsch
- , Chayada Tangshewinsirikul
- , Kevin T. Booth
- , Hela Azaiez
- , Devorah Yefet
- , Adina Quint
- , Tzvi Weiden
- , Zippora Brownstein
- , Michal Macarov
- , Bella Davidov
- , John Pappas
- , Rachel Rabin
- , Margaret A. Kenna
- , Andrea M. Oza
- , Katherine Lafferty
- , Sami S. Amr
- , Heidi L. Rehm
- , Diana L. Kolbe
- , Kathy Frees
- , Carla Nishimura
- , Minjie Luo
- , Chantal Farra
- , Cynthia C. Morton
- , Sholem Y. Scher
- , Josef Ekstein
- , Karen B. Avraham
- , Richard J. H. Smith
- & Jun Shen
European Journal of Human Genetics , 1–10

Rights & permissionsfor article A synonymous variant in <i>MYO15A</i> enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing . Opens in a new window.
Reviews | 15 December 2020 | Open
Clinical utility of genomic sequencing: a measurement toolkit
- Robin Z. Hayeems
- , David Dimmock
- , David Bick
- , John W. Belmont
- , Robert C. Green
- , Brendan Lanpher
- , Vaidehi Jobanputra
- , Roberto Mendoza
- , Shashi Kulkarni
- , Megan E. Grove
- , Stacie L. Taylor
- & Euan Ashley
npj Genomic Medicine 5 , 1–11

Rights & permissionsfor article Clinical utility of genomic sequencing: a measurement toolkit . Opens in a new window.
Reviews | 11 December 2020
Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories
European Journal of Human Genetics , 1–12

Rights & permissionsfor article Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories . Opens in a new window.
Research | 9 December 2020
Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades
European Journal of Human Genetics , 1–8

Rights & permissionsfor article Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades . Opens in a new window.
Research | 7 December 2020 | Open
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
European Journal of Human Genetics , 1–10

Rights & permissionsfor article Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis . Opens in a new window.
Research | 3 December 2020
Fast detection of SARS-CoV-2 RNA via the integration of plasmonic thermocycling and fluorescence detection in a portable device
- Jiyong Cheong
- , Hojeong Yu
- , Chang Yeol Lee
- , Jung-uk Lee
- , Hyun-Jung Choi
- , Jae-Hyun Lee
- , Hakho Lee
- & Jinwoo Cheon
Nature Biomedical Engineering 4 , 1159–1167

Rights & permissionsfor article Fast detection of SARS-CoV-2 RNA via the integration of plasmonic thermocycling and fluorescence detection in a portable device . Opens in a new window.
Research | 27 November 2020 | Open
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening
- Shogo Numa
- , Akio Oishi
- , Koichiro Higasa
- , Maho Oishi
- , Manabu Miyata
- , Tomoko Hasegawa
- , Hanako Ohashi Ikeda
- , Yuki Otsuka
- , Fumihiko Matsuda
- & Akitaka Tsujikawa
Scientific Reports 10 , 1–9

Rights & permissionsfor article <i>EYS</i> is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening . Opens in a new window.
Research | 27 November 2020 | Open
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
- Hiromi Ogura
- , Shouichi Ohga
- , Takako Aoki
- , Taiju Utsugisawa
- , Hidehiro Takahashi
- , Asayuki Iwai
- , Kenichiro Watanabe
- , Yusuke Okuno
- , Kenichi Yoshida
- , Seishi Ogawa
- , Satoru Miyano
- , Seiji Kojima
- , Toshiyuki Yamamoto
- , Keiko Yamamoto-Shimojima
- & Hitoshi Kanno
Human Genome Variation 7 , 1–4

Rights & permissionsfor article Novel <i>COL4A1</i> mutations identified in infants with congenital hemolytic anemia in association with brain malformations . Opens in a new window.
Research | 23 November 2020
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants
- Liis Leitsalu
- , Marili Palover
- , Timo Tõnis Sikka
- , Anu Reigo
- , Mart Kals
- , Kalle Pärn
- , Tiit Nikopensius
- , Tõnu Esko
- , Andres Metspalu
- , Peeter Padrik
- & Neeme Tõnisson
European Journal of Human Genetics , 1–11

Rights & permissionsfor article Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants . Opens in a new window.
Research | 22 November 2020
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child
- Hagar Mor-Shaked
- , Jonathan Rips
- , Shiri Gershon Naamat
- , Avichai Reich
- , Orly Elpeleg
- , Vardiella Meiner
- & Tamar Harel
European Journal of Human Genetics , 1–8

Rights & permissionsfor article Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child . Opens in a new window.
Research | 22 November 2020 | Open
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity
- Alexander J. M. Blakes
- , Emily Gaul
- , Wayne Lam
- , Nora Shannon
- , Karen M. Knapp
- , Louise S. Bicknell
- , Meremaihi R. Jackson
- , Emma M. Wade
- , Stephen Robertson
- , Susan M. White
- , Raoul Heller
- , Andrew Chase
- , Diana Baralle
- & Andrew G. L. Douglas
European Journal of Human Genetics , 1–11

Rights & permissionsfor article Pathogenic variants causing <i>ABL1</i> malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity . Opens in a new window.
Research | 24 November 2020
Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases
- Jee-Soo Lee
- , Kyung Bok Lee
- , Han Song
- , ChoongHyun Sun
- , Man Jin Kim
- , Sung Im Cho
- , Young Kyung Lee
- , Sung Sup Park
- & Moon-Woo Seong
European Journal of Human Genetics , 1–8

Rights & permissionsfor article Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases . Opens in a new window.
Research | 17 November 2020 | Open
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort
- Lev Prasov
- , Bin Guan
- , Ehsan Ullah
- , Steven M. Archer
- , Bernadete M. Ayres
- , Cagri G. Besirli
- , Laurel Wiinikka-Buesser
- , Grant M. Comer
- , Monte A. Del Monte
- , Susan G. Elner
- , Sarah J. Garnai
- , Laryssa A. Huryn
- , Kayla Johnson
- , Shivani S. Kamat
- , Philip Lieu
- , Shahzad I. Mian
- , Christine A. Rygiel
- , Jasmine Y. Serpen
- , Hemant S. Pawar
- , Brian P. Brooks
- , Sayoko E. Moroi
- , Julia E. Richards
- & Robert B. Hufnagel
Scientific Reports 10 , 1–13

Rights & permissionsfor article Novel <i>TMEM98, MFRP, PRSS56</i> variants in a large United States high hyperopia and nanophthalmos cohort . Opens in a new window.
Reviews | 9 November 2020
Genetic testing in dementia — utility and clinical strategies
- Carolin A. M. Koriath
- , Joanna Kenny
- , Natalie S. Ryan
- , Jonathan D. Rohrer
- , Jonathan M. Schott
- , Henry Houlden
- , Nick C. Fox
- , Sarah J. Tabrizi
- & Simon Mead
Nature Reviews Neurology 17 , 23–36

Rights & permissionsfor article Genetic testing in dementia — utility and clinical strategies . Opens in a new window.
Reviews | 5 November 2020
A review of the existing literature on buprenorphine pharmacogenomics
The Pharmacogenomics Journal , 1–12

Rights & permissionsfor article A review of the existing literature on buprenorphine pharmacogenomics . Opens in a new window.
Research | 30 October 2020
Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review
- Yuka Shibata
- , Masaaki Matsushima
- , Takashi Matsukawa
- , Hiroyuki Ishiura
- , Shoji Tsuji
- & Ichiro Yabe
Journal of Human Genetics , 1–3

Rights & permissionsfor article Adrenoleukodystrophy siblings with a novel <i>ABCD1</i> missense variant presenting with phenotypic differences: a case report and literature review . Opens in a new window.
Research | 26 October 2020 | Open
A large deletion on CFA28 omitting ACSL5 gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed
Scientific Reports 10 , 1–10

Rights & permissionsfor article A large deletion on CFA28 omitting <i>ACSL5</i> gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed . Opens in a new window.
Research | 22 October 2020
Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion
- Mehmet Bugrahan Duz
- & Pelin Ozyavuz Cubuk
Journal of Human Genetics , 1–6

Rights & permissionsfor article Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion . Opens in a new window.
Research | 20 October 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered
- Julia Brinkmann
- , Christina Lissewski
- , Valentina Pinna
- , Yoann Vial
- , Francesca Pantaleoni
- , Francesca Lepri
- , Paola Daniele
- , Birute Burnyte
- , Goran Cuturilo
- , Christine Fauth
- , Alper Gezdirici
- , Dieter Kotzot
- , Elif Yılmaz Güleç
- , Violeta Iotova
- , Denny Schanze
- , Francis Ramond
- , Markéta Havlovicová
- , Gulen Eda Utine
- , Pelin Ozlem Simsek-Kiper
- , Milena Stoyanova
- , Alain Verloes
- , Alessandro De Luca
- , Marco Tartaglia
- , Hélène Cavé
- & Martin Zenker
European Journal of Human Genetics , 1–4

Rights & permissionsfor article The clinical significance of <i>A2ML1</i> variants in Noonan syndrome has to be reconsidered . Opens in a new window.
Reviews | 23 October 2020 | Open
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease
- Christian R. Marshall
- , Shimul Chowdhury
- , Ryan J. Taft
- , Mathew S. Lebo
- , Jillian G. Buchan
- , Steven M. Harrison
- , Ross Rowsey
- , Eric W. Klee
- , Pengfei Liu
- , Elizabeth A. Worthey
- , Vaidehi Jobanputra
- , David Dimmock
- , Hutton M. Kearney
- , David Bick
- , Shashikant Kulkarni
- , Stacie L. Taylor
- , John W. Belmont
- , Dimitri J. Stavropoulos
- & Niall J. Lennon
npj Genomic Medicine 5 , 1–12

Rights & permissionsfor article Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease . Opens in a new window.
Research | 21 October 2020
Important factors in implementation of lineage-specific chimerism analysis for routine use
Bone Marrow Transplantation , 1–3

Rights & permissionsfor article Important factors in implementation of lineage-specific chimerism analysis for routine use . Opens in a new window.
Reviews | 21 October 2020
Measuring clinical utility in the context of genetic testing: a scoping review
European Journal of Human Genetics , 1–9

Rights & permissionsfor article Measuring clinical utility in the context of genetic testing: a scoping review . Opens in a new window.
Research | 23 October 2020
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario
- Erfan Aref-Eshghi
- , Jennifer Kerkhof
- , Deana Alexis Carere
- , Michael Volodarsky
- , Pratibha Bhai
- , Samantha Colaiacovo
- , Maha Saleh
- , Michelle Caudle
- , Natalya Karp
- , Chitra Prasad
- , Tugce Balci
- , Hanxin Lin
- , Craig Campbell
- , Victoria Mok Siu
- & Bekim Sadikovic
Journal of Human Genetics , 1–14

Rights & permissionsfor article Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario . Opens in a new window.
Research | 15 October 2020 | Open
Genetic architecture of left ventricular noncompaction in adults
Human Genome Variation 7 , 1–8

Rights & permissionsfor article Genetic architecture of left ventricular noncompaction in adults . Opens in a new window.
Research | 15 October 2020 | Open
Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations
- Shinichi Matsuda
- , Yuko Ohnuki
- , Mayuri Okami
- , Eriko Ochiai
- , Shiro Yamada
- , Kazumi Takahashi
- , Motoki Osawa
- , Kenji Okami
- , Masahiro Iida
- & Hiroyuki Mochizuki
Human Genome Variation 7 , 1–4

Rights & permissionsfor article Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations . Opens in a new window.
Research | 10 October 2020
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays
- Yanjie Fan
- , Lili Wang
- , Yu Sun
- , Ting Xu
- , Zhuwen Gong
- , Qianfeng Zhao
- , Wenjuan Qiu
- , Lili Liang
- , Bing Xiao
- , Huiwen Zhang
- , Lianshu Han
- , Fujun Lin
- , Rang Xu
- , Xuefan Gu
- & Yongguo Yu
Journal of Human Genetics , 1–9

Rights & permissionsfor article Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays . Opens in a new window.
Reviews | 9 October 2020
The need of a multicomponent guiding approach to personalize clopidogrel treatment
The Pharmacogenomics Journal , 1–12

Rights & permissionsfor article The need of a multicomponent guiding approach to personalize clopidogrel treatment . Opens in a new window.
Research | 6 October 2020 | Open
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
- Dulce Lima Cunha
- , Nicholas Owen
- , Vijay Tailor
- , Marta Corton
- , Maria Theodorou
- & Mariya Moosajee
European Journal of Human Genetics 29 , 349–355

Rights & permissionsfor article <i>PAX6</i> missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism . Opens in a new window.
Research | 28 September 2020
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions
Laboratory Investigation , 1–8

Rights & permissionsfor article Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions . Opens in a new window.
Research | 25 September 2020 | Open
A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14)
- V. I. Romero
- , J. C. Pozo
- , S. Saenz
- , A. Llamos-Paneque
- , T. Liehr
- , K. Hosomichi
- & A. Tajima
Human Genome Variation 7 , 1–4

Rights & permissionsfor article A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14) . Opens in a new window.
Research | 24 September 2020
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation
European Journal of Human Genetics 29 , 289–299

Rights & permissionsfor article Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation . Opens in a new window.
Research | 29 September 2020 | Open
Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome
- Donald W. Hadley
- , Dina Eliezer
- , Yonit Addissie
- , Andrea Goergen
- , Sato Ashida
- & Laura Koehly
Scientific Reports 10 , 1–10

Rights & permissionsfor article Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome . Opens in a new window.
Research | 18 September 2020 | Open
Ultrasensitive and visual detection of SARS-CoV-2 using all-in-one dual CRISPR-Cas12a assay
- Xiong Ding
- , Kun Yin
- , Ziyue Li
- , Rajesh V. Lalla
- , Enrique Ballesteros
- , Maroun M. Sfeir
- & Changchun Liu
Nature Communications 11 , 1–10

Rights & permissionsfor article Ultrasensitive and visual detection of SARS-CoV-2 using all-in-one dual CRISPR-Cas12a assay . Opens in a new window.
Reviews | 18 September 2020
Barriers and facilitators for cascade testing in genetic conditions: a systematic review
European Journal of Human Genetics 28 , 1631–1644

Rights & permissionsfor article Barriers and facilitators for cascade testing in genetic conditions: a systematic review . Opens in a new window.
Research | 14 September 2020
What is the meaning of a ‘genomic result’ in the context of pregnancy?
European Journal of Human Genetics 29 , 225–230

Rights & permissionsfor article What is the meaning of a ‘genomic result’ in the context of pregnancy? . Opens in a new window.
Research | 14 September 2020 | Open
A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing
- Qiandong Zeng
- , Natalia T. Leach
- , Zhaoqing Zhou
- , Hui Zhu
- , Jean A. Smith
- , Lynne S. Rosenblum
- , Angela Kenyon
- , Ruth A. Heim
- , Marcia Eisenberg
- , Stanley Letovsky
- & Patricia M. Okamoto
Scientific Reports 10 , 1–11

Rights & permissionsfor article A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing . Opens in a new window.
Research | 4 September 2020 | Open
Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping
- C. Trier
- , G. Fournous
- , J. M. Strand
- , A. Stray-Pedersen
- , R. D. Pettersen
- & A. D. Rowe
npj Genomic Medicine 5 , 1–10

Rights & permissionsfor article Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping . Opens in a new window.
Research | 3 September 2020
Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation
Journal of Human Genetics 66 , 193–203

Rights & permissionsfor article Harboyan syndrome: novel <i>SLC4A11</i> mutation, clinical manifestations, and outcome of corneal transplantation . Opens in a new window.
Research | 24 August 2020
Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank
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- , Rong Na
- , Chi-Hsiung Wang
- , W. Kyle Resurreccion
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- , Peter J. Hulick
- , Kathleen A. Cooney
- , Brian T. Helfand
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- & Jianfeng Xu
British Journal of Cancer 123 , 1356–1359

Rights & permissionsfor article Germline <i>HOXB13</i> G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank . Opens in a new window.
Research | 11 August 2020 | Open
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
npj Genomic Medicine 5 , 1–8

Rights & permissionsfor article Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses . Opens in a new window.
Research | 10 August 2020 | Open
Effect of drug metabolizing enzymes and transporters in Thai colorectal cancer patients treated with irinotecan-based chemotherapy
Scientific Reports 10 , 1–10

Rights & permissionsfor article Effect of drug metabolizing enzymes and transporters in Thai colorectal cancer patients treated with irinotecan-based chemotherapy . Opens in a new window.

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