Nature Search

Germline variants drive myelodysplastic syndrome in young adults

Simone Feurstein
Jane E. Churpek
Lucy A. Godley
Research28 Jan 2021
Leukemia

Volume: 35, P: 2439-2444
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Trilochan Sahoo
Daniela del Gaudio
Arthur L Beaudet
Research25 May 2008
Nature Genetics

Volume: 40, P: 719-721
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Jim Lupski and colleagues report characterization of complex genomic rearrangements at the MECP2 and PLP1 loci. They show that all the complex rearrangement products share a common genomic organization wherein the triplicated segment is inverted and located between directly oriented duplicated genomic segments; these structures are mediated by inverted repeats that can be separated by over 300 kb.

Claudia M B Carvalho
Melissa B Ramocki
James R Lupski
Research02 Oct 2011
Nature Genetics

Volume: 43, P: 1074-1081
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

Maria Helgeson
Jennifer Keller-Ramey
Daniela del Gaudio
Research26 Dec 2017
Journal of Human Genetics

Volume: 63, P: 349-356
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Tracy Brandt
Laura M. Sack
Jeanne M. Meck
Research19 Sept 2019
Genetics in Medicine

Volume: 22, P: 336-344
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Miao Sun
Amy Knight Johnson
Soma Das
Research18 Jun 2018
Genetics in Medicine

Volume: 21, P: 195-206
Reprogramming human T cell function and specificity with non-viral genome targeting

A non-viral strategy to introduce large DNA sequences into T cells enables the correction of a pathogenic mutation that causes autoimmunity, and the replacement of an endogenous T-cell receptor with an engineered receptor that can recognize cancer antigens.

Theodore L. Roth
Cristina Puig-Saus
Alexander Marson
Research11 Jul 2018
Nature

Volume: 559, P: 405-409
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants

Tracy Brandt
Laura M. Sack
Jeanne M. Meck
Amendments and Corrections17 Dec 2019
Genetics in Medicine

Volume: 22, P: 670-671
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining

Junko Oshima
Jennifer A Lee
Daniela del Gaudio
Research19 May 2011
Journal of Human Genetics

Volume: 56, P: 516-523
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Loren D M Pena
Yong-Hui Jiang
Vandana Shashi
Research14 Sept 2017
Genetics in Medicine

Volume: 20, P: 464-469
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Zejuan Li
Rhonda Schonberg
Daniela del Gaudio
Research26 Mar 2015
Journal of Human Genetics

Volume: 60, P: 363-369
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

Trilochan Sahoo
Sau Wai Cheung
Christine M Eng
Research01 Nov 2006
Genetics in Medicine

Volume: 8, P: 719-727
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

Kai Lee Yap
Amy E. Knight Johnson
Daniela del Gaudio
Research15 Jun 2018
Genetics in Medicine

Volume: 21, P: 233-242
Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals”

Kai Lee Yap
Amy E. Knight Johnson
Daniela del Gaudio
Amendments and Corrections11 Aug 2018
Genetics in Medicine

Volume: 21, P: 262-265
Response to Mounts and Besser

Gordana Raca
Marwan Shinawi
Daniela del Gaudio
Correspondence20 Aug 2020
Genetics in Medicine

Volume: 23, P: 240-242
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Daniela del Gaudio
Ping Fang
Benjamin B Roa
Research01 Dec 2006
Genetics in Medicine

Volume: 8, P: 784-792
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

Daniela del Gaudio
Marwan Shinawi
Gordana Raca
Reviews16 Apr 2020
Genetics in Medicine

Volume: 22, P: 1133-1141
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan
Caroline Astbury
Sue Richards
Reviews14 May 2020
Genetics in Medicine

Volume: 22, P: 1288-1295

Search

Germline variants drive myelodysplastic syndrome in young adults

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

Reprogramming human T cell function and specificity with non-viral genome targeting

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals”

Response to Mounts and Besser

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

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