D. del Gaudio

发表

Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO

D. Waggoner, Maria V. Salguero, K. Chan, 2022, Journal of the Endocrine Society.

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

J. Lupski, S. Cheung, H. Zoghbi, 2011, Nature Genetics.

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

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Soma Das, G. Alkorta-Aranburu, S. Greeley, 2014, Molecular genetics and metabolism.

A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.

L. Shao, D. del Gaudio, I. B. Van den Veyver, 2008, Molecular human reproduction.

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

Lora J. H. Bean, D. Arjona, Laura M. Sack, 2019, Genetics in Medicine.

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid

R. Finnell, P. Moretti, N. Blau, 2005, Neurology.

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

Channabasavaiah B. Gurumurthy, Rolen M. Quadros, A. Ashworth, 2017, bioRxiv.

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

Soma Das, M. Shinawi, D. del Gaudio, 2014, Gene.

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

Z. Ou, P. Stankiewicz, Ankita Patel, 2010 .

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

Soma Das, D. del Gaudio, L. Godley, 2020, Human mutation.

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

D. del Gaudio, K. Arndt, C. Hawkes, 2020, American journal of medical genetics. Part A.

Regional genomic instability predisposes to complex dystrophin gene rearrangements

L. D. White, A. Breman, C. Eng, 2009, Human Genetics.

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes

N. Young, G. Alkorta-Aranburu, D. del Gaudio, 2017, Leukemia.

Novel compound heterozygous LRBA deletionsin a 6-month old with neonatal diabetes.

D. del Gaudio, May Sanyoura, E. Lundgrin, 2021, Diabetes research and clinical practice.

Germline variants drive myelodysplastic syndrome in young adults

T. Walsh, M. King, K. Döhner, 2021, Leukemia.

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

B. Glaser, Soo-young Park, L. Philipson, 2018, Pediatric diabetes.

Frequency of incidental pathogenic and likely pathogenic germline variants detected via tumor-only mesothelioma genomic profiling

S. Armato, J. Donington, A. Husain, 2022, medRxiv.

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

G. B. Schaefer, D. del Gaudio, Jennifer A. Lee, 2017, American journal of medical genetics. Part A.

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

L. Vissers, R. Pfundt, B. D. de Vries, 2020, American journal of human genetics.

Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach

Soma Das, G. Alkorta-Aranburu, D. del Gaudio, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

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

Soma Das, D. Waggoner, D. del Gaudio, 2013, Molecular genetics & genomic medicine.

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

J. Lupski, S. Cheung, C. Schaaf, 2012, BMC Medical Genetics.

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

Soma Das, Bailey Gallinger, M. Meyn, 2022, Hematological oncology.

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

M. Shinawi, G. Raca, D. del Gaudio, 2020, Genetics in Medicine.

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

S. Ellard, L. Aguilar-Bryan, T. Laver, 2020, Human mutation.

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

L. Philipson, M. Atkinson, G. Alkorta-Aranburu, 2018, The Journal of clinical endocrinology and metabolism.

Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.

T. Walsh, M. King, R. Collins, 2020, Blood advances.

Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis

S. Topper, D. del Gaudio, K. Arndt, 2016, Clinical genetics.

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

Soma Das, M. Burmeister, C. Gomez, 2018, Genetics in Medicine.

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

Joshua L. Deignan, W. Grody, G. Cutting, 2020, Genetics in Medicine.

Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis

K. Sund, R. Hopkin, Jinoh Kim, 2014, American journal of medical genetics. Part A.

A Point Mutation in the Gene for Asparagine-Linked Glycosylation 10B (Alg10b) Causes Nonsyndromic Hearing Impairment in Mice (Mus musculus)

Simon S. Gao, M. Justice, D. del Gaudio, 2013, PloS one.

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

I. Krantz, Soma Das, S. Tremblay, 2017, Journal of Human Genetics.

Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation

S. Mundlos, N. Brunetti‐Pierri, C. Ott, 2008, American journal of medical genetics. Part A.

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

Rebecca C. Spillmann, D. Goldstein, D. Wechsler, 2017, Genetics in Medicine.

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

J. Weissman, M. Leonetti, S. Hughes, 2018, Nature.

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

I. Krantz, Soma Das, S. Tremblay, 2018, Journal of Human Genetics.

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

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

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

Golder N Wilson, E. Roeder, D. Horn, 2020, Brain : a journal of neurology.

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

Lora J. H. Bean, D. Arjona, Laura M. Sack, 2019, Genetics in Medicine.

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

Soma Das, M. Burmeister, C. Gomez, 2018, Genetics in Medicine.

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

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

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

S. Ellard, Soma Das, L. Burrage, 2018, Genetics in Medicine.

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory

D. del Gaudio, K. Arndt, S. Das, 2014, Clinical genetics.

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

Z. Ou, P. Stankiewicz, S. Cheung, 2010 .

Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma

S. Armato, J. Donington, A. Husain, 2023, JAMA network open.

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

Jonathan S. Weissman, Alan Ashworth, Antoni Ribas, 2017, Nature.

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

L. Philipson, S. Greeley, D. del Gaudio, 2019, Diabetes research and clinical practice.

Dystrophinopathy in Girls With Limb Girdle Muscular Dystrophy Phenotype

S. Iannaccone, D. del Gaudio, S. Agadi, 2010, Journal of clinical neuromuscular disease.

Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: Results of over 1.5 million tests

V. Jobanputra, C. Marshall, H. Rehm, 2022, medRxiv.

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

P. Stankiewicz, Z. Xia, Ankita Patel, 2010, Human mutation.

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.

J. Gastier-Foster, D. Bartholomew, D. del Gaudio, 2013, European journal of medical genetics.