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

Genetics in medicine, 2019-01, Vol.21 (1), p.195-206

2019

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

Nature genetics, 2011-10, Vol.43 (11), p.1074-1081

2011

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Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA

The journal of clinical endocrinology and metabolism, 2018-01, Vol.103 (1), p.35-45

2018

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

Genetics in medicine, 2020-07, Vol.22 (7), p.1133-1141

2020

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

Journal of human genetics, 2015-07, Vol.60 (7), p.363-369

2015

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

Journal of human genetics, 2018-03, Vol.63 (3), p.349-356

2018

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

Nature (London), 2018-07, Vol.559 (7714), p.405-409

2018

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

Genetics in medicine, 2020-08, Vol.22 (8), p.1288-1295

2020

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Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders

Human mutation, 2022-07, Vol.43 (7), p.950-962

2022

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

Nature genetics, 2008-06, Vol.40 (6), p.719-721

2008

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Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation

Haematologica (Roma), 2024-04

2024

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Exome sequencing identifies PD‐L2 as a potential predisposition gene for lymphoma

Hematological oncology, 2022-08, Vol.40 (3), p.475-478

2022

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GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants

Diabetes research and clinical practice, 2019-05, Vol.151, p.231-236

2019

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Alu‐mediated deletion of PIGL in a Patient with CHIME syndrome

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1378-1382

2017

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Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.889-893

2021

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A novel telomere biology disease‐associated gastritis identified through a whole exome sequencing‐driven approach

The journal of pathology. Clinical research, 2024-01, Vol.10 (1), p.e349-n/a

2024

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FOXP3 mutations causing early‐onset insulin‐requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome

Pediatric diabetes, 2018-05, Vol.19 (3), p.388-392

2018

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Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

Molecular genetics & genomic medicine, 2014-03, Vol.2 (2), p.115-123

2014

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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

American journal of human genetics, 2020-03, Vol.106 (3), p.405-411

2020

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

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders

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

Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA

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

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

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

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

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

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

Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

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

Germline variants drive myelodysplastic syndrome in young adults

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders

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

Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation

Exome sequencing identifies PD‐L2 as a potential predisposition gene for lymphoma

Detection of clinically relevant exonic copy-number changes by array CGH

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants

Alu‐mediated deletion of PIGL in a Patient with CHIME syndrome

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants

A novel telomere biology disease‐associated gastritis identified through a whole exome sequencing‐driven approach

FOXP3 mutations causing early‐onset insulin‐requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

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