November 2020

In This Issue

News

Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)

• Kim L. McBride,
• Susan A. Berry,
• Nancy Braverman
• ACMG Therapeutics Committee

A six-attribute classification of geneticmosaicism

• Víctor Martínez-Glez,
• Jair Tenorio,
• Julián Nevado,
• ...
• Rudolf Happle,
• Leslie G. Biesecker,
• Pablo Lapunzina

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

• James S. Acierno,
• Cheng Xu,
• Georgios E. Papadakis,
• ...
• Jacques Young,
• Federico A. Santoni,
• Nelly Pitteloud

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

• Tomasz Gambin,
• Qian Liu,
• Justyna A. Karolak,
• ...
• Pengfei Liu,
• James R. Lupski,
• Paweł Stankiewicz

Genetics and pediatric hospital admissions, 1985 to 2017

• Stephanie Gjorgioski,
• Jane Halliday,
• Merilyn Riley,
• David J. Amor,
• Martin B. Delatycki,
• Agnes Bankier

A molecular basis for neurofibroma-associated skeletal manifestations in NF1

• Yun Ma,
• Andrea M. Gross,
• Eva Dombi,
• ...
• Brigitte C. Widemann,
• Jonathan J. Rios,
• Florent Elefteriou

Late morbidity and mortality in adult survivors of childhood glioma with neurofibromatosis type 1: report from the Childhood Cancer Survivor Study

• Peter de Blank,
• Nan Li,
• Michael J. Fisher,
• ...
• Leslie L. Robison,
• Gregory T. Armstrong,
• Kevin R. Krull

Validation of the BOADICEA model and a 313-variant polygenic risk score for breast cancer risk prediction in a Dutch prospective cohort

• Inge M.M. Lakeman,
• Mar Rodríguez-Girondo,
• Andrew Lee,
• ...
• André G. Uitterlinden,
• Jeroen van Rooij,
• Peter Devilee

Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time

• Jeroen van Rooij,
• Pascal Arp,
• Linda Broer,
• ...
• Robert Kraaij,
• André Uitterlinden,
• Annemieke J.M.H. Verkerk

Participant choices for return of genomic results in the eMERGE Network

• Christin Hoell,
• Julia Wynn,
• Luke V. Rasmussen,
• ...
• Richard R. Sharp,
• Maureen E. Smith,
• Cynthia A. Prows

Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study

• Alexander A. Iyer,
• Julie R. Barzilay,
• Holly K. Tabor

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

• Gerarda Cappuccio,
• Camille Sayou,
• Pauline Le Tanno,
• ...
• Jérôme Govin,
• Antonio Vitobello,
• Nicola Brunetti-Pierri

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

• Thomas Roux,
• Mathieu Barbier,
• Mélanie Papin,
• ...
• Nethisinghe Suran,
• Thomas Warner,
• Nicholas Wood

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

• Dominic Lenz,
• Desirée E.C. Smith,
• Ellen Crushell,
• ...
• Holger Prokisch,
• Marisa I. Mendes,
• Christian Staufner

Clinical outcomes of a genomic screening program for actionable genetic conditions

• Adam H. Buchanan,
• H. Lester Kirchner,
• Marci L.B. Schwartz,
• ...
• David H. Ledbetter,
• Marc S. Williams,
• Amy C. Sturm

Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals

• Paul Lacaze,
• Robert Sebra,
• Moeen Riaz,
• ...
• Ingrid Winship,
• John J. McNeil,
• Eric Schadt

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

• Solveig Heide,
• Myrtille Spentchian,
• Stéphanie Valence,
• ...
• Marie-Laure Moutard,
• Boris Keren,
• Delphine Héron

Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

• My Linh Thibodeau,
• Kieran O’Neill,
• Katherine Dixon,
• ...
• Marco A. Marra,
• Kasmintan A. Schrader,
• Steven J.M. Jones

Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection

• Amber L. Beitelshees,
• James M. Stevenson,
• Nihal El Rouby,
• ...
• Todd C. Skaar,
• Sony Tuteja,
• Larisa H. Cavallari

Tracing the mutated HTT and haplotype of the African ancestor who spread Huntington disease into the Middle East

• Ferdinando Squitieri,
• Tommaso Mazza,
• Sabrina Maffi,
• ...
• Bernard G. Landwhermeyer,
• Umberto Sabatini,
• Michael R. Hayden

The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases

• M. Rebecca Heiner-Fokkema,
• Jennifer van der Krogt,
• Foekje de Boer,
• ...
• Ronald G.H.J. Maatman,
• Irene J. Hoogeveen,
• Terry G.J. Derks

Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation

• Shiva Ganesan,
• Peter D. Galer,
• Katherine L. Helbig,
• ...
• Pouya Khankhanian,
• Colin A. Ellis,
• Ingo Helbig