W. Alcaraz

发表

Molecular findings among patients referred for clinical whole-exome sequencing.

Magalie S Leduc, Ankita Patel, J. Lupski, 2014, JAMA.

Three cases of Troyer syndrome in two families of Filipino descent

K. Helbig, L. Seaver, W. Alcaraz, 2016, American journal of medical genetics. Part A.

Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher

Meghan C Towne, B. Wayburn, M. Towne, 2021, Human mutation.

Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation

Eric Raponi, B. Hamilton, W. Alcaraz, 2006, Proceedings of the National Academy of Sciences.

Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant

Meghan C Towne, Colin A. Ellis, T. Olson, 2022, British journal of haematology.

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

C. Stevens, S. Sajan, B. Wayburn, 2019, Genetics in Medicine.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss‐of‐function mutation in ADAMTS3

C. Timmons, A. Scheuerle, D. Shinde, 2018, American journal of medical genetics. Part A.

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Ankita Patel, J. Lupski, R. Gibbs, 2015 .

Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

J. Rivière, K. Boycott, J. Thevenon, 2017, Clinical genetics.

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

S. Sajan, K. Helbig, L. Immken, 2018, Clinical case reports.

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2016, Genetics in Medicine.

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2018, Genetics in Medicine.

MAGEL2‐related disorders: A study and case series

I. Thiffault, F. Santos-Simarro, E. Engle, 2019, Clinical genetics.

Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation

W. Alcaraz, Z. Powis, K. Barañano, 2016, American journal of medical genetics. Part A.

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy

A. Fatemi, J. Pevsner, D. Shinde, 2017, American journal of medical genetics. Part A.

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

R. Schüle, L. Schöls, H. Lerche, 2016, Annals of neurology.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

Strain-Dependent Modifier Genes Determine Survival in Zfp423 Mice

W. Alcaraz, E. Chen, Dorothy Concepcion, 2020, bioRxiv.

Modifier genes and non-genetic factors reshape anatomical deficits in Zfp423-deficient mice.

W. Alcaraz, Y. Lo, Jennifer M Vo, 2011, Human molecular genetics.

Kufor‐Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese‐American Brothers

N. Hellmers, E. Noch, C. Henchcliffe, 2018, Movement disorders clinical practice.