November 23, 2022

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

  • Mathieu Barbier,
  • Claire-Sophie Davoine,
  • Emilien Petit,
  • ...
  • Christine Van Broeckhoven,
  • Alexis Brice,
  • Alexandra Durr
Published online: November 23, 2022

November 19, 2022

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome

  • Eissa A. Faqeih,
  • Malak Ali Alghamdi,
  • Marwa A. Almahroos,
  • ...
  • Ashraf Dallol,
  • Majid Alfadhel,
  • Naif A.M. Almontashiri
Published online: November 19, 2022

November 17, 2022

Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease

  • Yu-Kang Hsu,
  • Yin-Hsiu Chien,
  • Steven Shinn-Forng Peng,
  • ...
  • Ni-Chung Lee,
  • Eric Po-Yu Huang,
  • Wen-Chin Weng
Published online: November 17, 2022
Open Access

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

  • Jet Coenen-van der Spek,
  • Raissa Relator,
  • Jennifer Kerkhof,
  • ...
  • Bekim Sadikovic,
  • Tjitske Kleefstra,
  • Kameryn M. Butler
Published online: November 17, 2022

Moving toward more consistency in variant classification and clinical action

  • Karen L. David,
  • Joshua L. Deignan
Published online: November 17, 2022

November 16, 2022

Correspondence on “Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population” by Savatt et al

  • Lore van Riel,
  • Philip R. Jansen,
  • Bart G. Boerrigter,
  • ...
  • Rob M.F. Wolthuis,
  • Irma van de Beek,
  • Arjan C. Houweling
Published online: November 16, 2022

Response to van Riel et al

  • Juliann M. Savatt,
  • Matthew T. Oetjens,
  • Scott M. Myers,
  • Brenda M. Finucane
Published online: November 16, 2022

November 14, 2022

Response to Li and Sun

  • Lucinda Freeman,
  • Martin B. Delatycki,
  • Jackie Leach Scully,
  • Edwin P. Kirk
Published online: November 14, 2022

November 13, 2022

“Extremely slow and capricious”: A qualitative exploration of genetic researcher priorities in selecting shared data resources

  • M. Grace Trinidad,
  • Kerry A. Ryan,
  • Chris D. Krenz,
  • ...
  • Madison Kent,
  • David Wilborn,
  • Kayte Spector-Bagdady
Published online: November 13, 2022

November 9, 2022

Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests

  • Elise A. Ferreira,
  • Annemarijne R.J. Veenvliet,
  • Udo F.H. Engelke,
  • ...
  • Clara D.M. van Karnebeek,
  • Richard J. Rodenburg,
  • Karlien L.M. Coene
Published online: November 09, 2022
Open Access

November 6, 2022

Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome

  • Cora M. Taylor,
  • Brenda M. Finucane,
  • Andres Moreno-De-Luca,
  • Lauren K. Walsh,
  • Christa Lese Martin,
  • David H. Ledbetter
Published online: November 06, 2022

November 3, 2022

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

  • Heba Morsy,
  • Mehdi Benkirane,
  • Elisa Cali,
  • ...
  • Henry Houlden
  • On behalf of Queen Square Genomics,
  • On behalf of Genomics England Research Consortium
Published online: November 03, 2022
Open Access

November 2, 2022

Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: A systematic review

  • Courtney K. Wallingford,
  • Hannah Kovilpillai,
  • Chris Jacobs,
  • ...
  • H. Peter Soyer,
  • Aideen M. McInerney-Leo,
  • Tatiane Yanes
Published online: November 02, 2022

November 1, 2022

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

  • Richard H. van Jaarsveld,
  • Jack Reilly,
  • Marie-Claire Cornips,
  • ...
  • Bekim Sadikovic,
  • Mariëlle Alders,
  • Renske Oegema
Published online: November 01, 2022
Open Access

October 31, 2022

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

  • Ken Saida,
  • Reza Maroofian,
  • Toru Sengoku,
  • ...
  • James R. Lupski,
  • Henry Houlden,
  • Naomichi Matsumoto
Published online: October 31, 2022

October 28, 2022

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

  • Georg F. Vogel,
  • Yael Mozer-Glassberg,
  • Yuval E. Landau,
  • ...
  • Jian-She Wang,
  • Daniel Weghuber,
  • Saskia Wortmann
Published online: October 28, 2022
Open Access

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

  • Masamune Sakamoto,
  • Kazuhiro Iwama,
  • Masayuki Sasaki,
  • ...
  • Takeshi Mizuguchi,
  • Noriko Miyake,
  • Naomichi Matsumoto
Published online: October 28, 2022

October 27, 2022

Genetics professionals are key to the integration of genetic testing within the practice of frontline clinicians

  • Maren T. Scheuner,
  • Paloma Sales,
  • Katherine Hoggatt,
  • Ning Zhang,
  • Mary A. Whooley,
  • Michael J. Kelley
Published online: October 27, 2022

October 19, 2022

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

  • Daniel Quiat,
  • Andrew T. Timberlake,
  • Justin J. Curran,
  • ...
  • Carrie L. Heike,
  • Jonathan G. Seidman,
  • Christine E. Seidman
Published online: October 19, 2022
Open Access

October 18, 2022

COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis

  • Jineta Banerjee,
  • Jan M. Friedman,
  • Laura J. Klesse,
  • ...
  • Scott Plotkin,
  • Robert J. Allaway,
  • Jaishri O. Blakeley
Published online: October 18, 2022

October 12, 2022

An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes

  • Kelsey E. Breen,
  • Bryson W. Katona,
  • Amanda Catchings,
  • ...
  • Alicia Latham,
  • Matthew B. Yurgelun,
  • Zsofia K. Stadler
Published online: October 12, 2022

October 10, 2022

October 4, 2022

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

  • Auriane Cospain,
  • Ana Rivera-Barahona,
  • Erwan Dumontet,
  • ...
  • Koen Devriendt,
  • Laurent Pasquier,
  • Luis A. Pérez-Jurado
Published online: October 04, 2022

October 3, 2022

Estimation of the number of people with Down syndrome in Australia and New Zealand

  • Gert de Graaf,
  • Ellen Skladzien,
  • Frank Buckley,
  • Brian G. Skotko
Published online: October 03, 2022

De novo variants are a common cause of genetic hearing loss

  • Miles J. Klimara,
  • Carla Nishimura,
  • Donghong Wang,
  • ...
  • Kathy L. Frees,
  • Richard J.H. Smith,
  • Hela Azaiez
Published online: October 03, 2022

September 29, 2022

September 28, 2022

High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer

  • Nicola Flaum,
  • Emma J. Crosbie,
  • Richard Edmondson,
  • ...
  • Miriam J. Smith,
  • Helene Schlecht,
  • D. Gareth Evans
Published online: September 28, 2022
Open Access

A pragmatic clinical trial of cascade testing for familial hypercholesterolemia

  • Alexandra A. Miller,
  • Hana Bangash,
  • Carin Y. Smith,
  • Christina M. Wood-Wentz,
  • Kent R. Bailey,
  • Iftikhar J. Kullo
Published online: September 28, 2022

September 27, 2022

Response to Grosse and Gudgeon

  • Tara A. Lavelle,
  • Xue Feng,
  • Marlena Keisler,
  • ...
  • Paula S. Espinal,
  • Samuel B. Weidner,
  • Jill L. Maron
Published online: September 27, 2022

September 23, 2022

Genetic drivers of Cushing’s disease: Frequency and associated phenotypes

  • Laura C. Hernández-Ramírez,
  • Nathan Pankratz,
  • John Lane,
  • ...
  • Zachary Beethem,
  • James L. Mills,
  • Constantine A. Stratakis
Published online: September 23, 2022

The natural history of fibrodysplasia ossificans progressiva: A prospective, global 36-month study

  • Robert J. Pignolo,
  • Geneviève Baujat,
  • Matthew A. Brown,
  • ...
  • Rose Marino,
  • Andrew Strahs,
  • Frederick S. Kaplan
Published online: September 23, 2022
Open Access

September 22, 2022

Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020

  • Jessica C. Tiner,
  • Leah E. Mechanic,
  • Lisa Gallicchio,
  • Elizabeth M. Gillanders,
  • Kathy J. Helzlsouer
Published online: September 22, 2022
Open Access

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

  • Adriana P. Rebelo,
  • Ariel Ruiz,
  • Maike F. Dohrn,
  • ...
  • Jonathan Baets,
  • Rebecca Schüle,
  • Stephan Zuchner
Published online: September 22, 2022

September 21, 2022

September 19, 2022

Response to Ramos et al

  • Eleanor G. Seaby,
  • Diana Baralle,
  • Heidi L. Rehm,
  • Anne O’Donnell-Luria,
  • Sarah Ennis
Published online: September 19, 2022

September 18, 2022

Desperately seeking solutions

  • William A. Gahl,
  • Mary Perry
Published online: September 18, 2022

September 15, 2022

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study

  • Ravi Savarirayan,
  • Melita Irving,
  • Paul Harmatz,
  • ...
  • Elena Fisheleva,
  • Alice Huntsman-Labed,
  • Jonathan Day
Published online: September 15, 2022
Open Access

September 13, 2022

Correspondence on “A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes” by Seaby et al

  • Luiza Lorena Pires Ramos,
  • João Paulo Kitajima,
  • Larissa Sampaio de Athayde Costa,
  • Fabiola Paoli Monteiro,
  • Fernando Kok
Published online: September 13, 2022

January 31, 2022

Standardizing variation: Scaling up clinical genomics in Australia

  • Stephanie Best,
  • Janet C. Long,
  • Jeffrey Braithwaite,
  • Natalie Taylor
Published online: January 31, 2022
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