Z. Powis

发表

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Xiang Li, Aaron Elliott, Xiang Li, 2014, Genetics in Medicine.

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

J. Rosenfeld, L. Reinholdt, F. Scaglia, 2017, Human molecular genetics.

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

I. Scheffer, H. Mefford, G. Cioni, 2021, Brain : a journal of neurology.

Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern

Sha Tang, K. Farwell, Z. Powis, 2015, Journal of Human Genetics.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.

M. Black, Sha Tang, D. El-Khechen, 2017, Pediatric neurology.

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

H. Freeze, C. Lebrilla, E. Faqeih, 2018, American journal of human genetics.

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

Joshua L. Deignan, Lora J. H. Bean, J. Rosenfeld, 2020, American journal of medical genetics. Part A.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

DIAGNOSTIC EXOME SEQUENCING IN PEDIATRIC PATIENTS WITH CONGENITAL HEART DISEASE

Z. Powis, Jill S. Dolinsky, D. Thrush, 2016 .

POGZ truncating alleles cause syndromic intellectual disability

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

Clinical spectrum of STX1B-related epileptic disorders

A. Pagnamenta, P. May, W. van Paesschen, 2019, Neurology.

POGZ truncating alleles cause syndromic intellectual disability

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

T. Mullen, S. Edvardson, A. Shaag, 2017, American journal of human genetics.

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

I. Helbig, C. Mroske, K. Helbig, 2016, 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.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

A. Serretti, A. Fatemi, K. Gripp, 2018, Clinical genetics.

Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent.

K. Nathanson, H. LaDuca, E. Chao, 2018, Cancer genetics.

When moments matter: Finding answers with rapid exome sequencing

J. Graham, L. Randolph, E. Palmaer, 2019, Molecular genetics & genomic medicine.

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

A. C. Chinault, Ankita Patel, J. Lupski, 2008, Journal of Medical Genetics.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

A. Toutain, R. Jobling, B. Krock, 2018, American journal of human genetics.

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

R. Erickson, Z. Powis, 2009, Journal of Applied Genetics.

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

Donald G Basel, E. Chao, Sha Tang, 2015, Prenatal diagnosis.

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.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Stephen W. Wilson, R. Holt, E. van Binsbergen, 2019, American journal of human genetics.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis

V. Speare, Sha Tang, K. D. Farwell Hagman, 2018, Genetics in Medicine.

Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

K. Helbig, D. Shinde, D. Grange, 2017, Human mutation.

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

S. Sajan, E. Palmaer, M. Towne, 2019, Clinical genetics.

Clinical whole‐exome sequencing results impact medical management

K. D. Farwell Hagman, Z. Powis, J. Cohen, 2018, Molecular genetics & genomic medicine.

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

E. Palmaer, Sha Tang, Z. Powis, 2017, BMC Medical Genetics.

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.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

R. Pfundt, T. Kleefstra, C. V. van Ravenswaaij-Arts, 2018, Clinical genetics.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

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.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

G. Cooper, S. Papuc, J. Schreiber, 2019, European Journal of Human Genetics.

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.

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features

J. Ganesh, S. Sajan, D. Shinde, 2018, Journal of Medical Genetics.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

Mosaic tetrasomy 12p with triplication of 12p detected by array‐based comparative genomic hybridization of peripheral blood DNA

K. Gunderson, M. L. Cooper, Ankita Patel, 2007, American journal of medical genetics. Part A.

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Xiaoping Yang, D. Liang, Xuefan Gu, 2018, American journal of human genetics.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Richard M Myers, Gregory M Cooper, Susan M Hiatt, 2018, bioRxiv.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

R. Pfundt, H. Firth, H. Brunner, 2019, American journal of human genetics.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, J. Rosenfeld, R. Pfundt, 2022, Molecular Psychiatry.

Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies

S. Pandya, S. Apkon, Z. Lu, 2014, Muscle & nerve.

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey

G. B. Schaefer, B. Helm, S. Kahler, 2017, American journal of medical genetics. Part A.

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Michael F. Wangler, A. Need, S. Levy, 2018, Human molecular genetics.

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

E. McPherson, C. Mroske, D. Shinde, 2015, BMC Medical Genetics.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Mouse screen reveals multiple new genes underlying mouse and human hearing loss

Jacqueline K. White, C. Lelliott, K. Steel, 2019, PLoS biology.

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

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

Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis

V. Speare, Sha Tang, K. D. Farwell Hagman, 2018, Genetics in Medicine.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

G. Cooper, S. Papuc, J. Schreiber, 2019, European Journal of Human Genetics.

Human Mutation

Colby T. Ford, Lipika R. Pal, Meng Wang, 2019 .

Clinical spectrum of STX1B-related epileptic disorders

A. Pagnamenta, P. May, W. van Paesschen, 2019, Neurology.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

H. J. Schelhaas, S. Naidu, E. Gardella, 2024, Epilepsia.