T. Grebe

发表

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Cell.

The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Marc S. Williams, L. Seaver, T. Grebe, 2020, Genetics in Medicine.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

Stephen W. Scherer, Lucy R. Osborne, Joann Bodurtha, 2001, Nature Genetics.

7p deletion syndrome: an adult with mild manifestations.

T. Grebe, S. Cassidy, M. Stevens, 1992, American journal of medical genetics.

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

A. Leha, H. Omran, D. Mitter, 2019, Annals of clinical and translational neurology.

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

B. V. van Bon, A. Hoischen, B. D. de Vries, 2017, PLoS genetics.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

E. van Binsbergen, S. Twigg, A. Wilkie, 2019, American journal of human genetics.

The Deciphering Developmental Disorders Study (2019). De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. American Journal of Human Genetics 104 (4),

M. V. Dooren, S. Twigg, A. Wilkie, 2019 .

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

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

Expanded phenotype of AARS1-related white matter disease

A. Vanderver, R. Schiffmann, R. Carrozzo, 2021, Genetics in Medicine.

Atypical Prader-Willi Syndrome

J. Conroy, B. Horsthemke, A. Laurie, 2006 .

Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation

T. Grebe, Sha Tang, R. Bhardwaj, 2016, Journal of child neurology.

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy

Matthew S. Lebo, W. Chung, M. Wheeler, 2020, Human mutation.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

Michael F. Wangler, Q. K. Tan, R. Pfundt, 2021, American journal of human genetics.

Genetic analysis of Hispanic individuals with cystic fibrosis.

W. W. Doane, D. Gozal, W. Seltzer, 1994, American journal of human genetics.

Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.

W. W. Doane, W. Seltzer, S. Rhodes, 1992, American journal of human genetics.

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

P. Stankiewicz, S. Rosengren, E. Roeder, 2008, Nature Genetics.

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017, Genetics in Medicine.

FOXG 1 syndrome : genotype – phenotype association in 83 patients with FOXG 1 variants

A. Fatemi, D. Mitter, N. Hauser, 2017 .

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

S. Scherer, B. Fernandez, R. Weksberg, 2002, Genomics.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

E. Zackai, B. Korf, V. Narayanan, 2009, JAMA.

Novel Case of Prader–Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management

T. Grebe, D. Mattia, C. Lindblade, 2022, Journal of Pediatric Genetics.

Complete detection of mutations in cystic fibrosis patients of Native American origin

X. Estivill, P. Pignatti, C. Férec, 1994, Human Genetics.

Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review.

H. Hoyme, M. Rimsza, T. Grebe, 1993, American journal of medical genetics.

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

Ankita Patel, J. Lupski, S. Cheung, 2006, Genetics in Medicine.

Autism and Increased Paternal Age Related Changes in Global Levels of Gene Expression Regulation

Dietrich A. Stephan, Rene Hen, D. Stephan, 2011, PloS one.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

Chronic pain in Noonan Syndrome: A previously unreported but common symptom

T. Grebe, S. Vegunta, R. Cotugno, 2015, American journal of medical genetics. Part A.

Multiple symmetric lipomatosis as a genetic disorder: a review

T. Grebe, E. Joganic, A. Olsen, 2012, European Journal of Plastic Surgery.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.

J. F. Kerrigan, T. Grebe, B. Appavu, 2016, Epileptic disorders : international epilepsy journal with videotape.

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

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.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

P. Stankiewicz, A. Beaudet, S. Lalani, 2017, Journal of autism and developmental disorders.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

P. Stankiewicz, S. Lalani, M. Shinawi, 2016, Journal of Autism and Developmental Disorders.

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

M. Poot, A. Federico, D. Schindler, 2017, Human mutation.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

S. Schwartz, K. Tsuchiya, J. Conroy, 1997, American journal of human genetics.

Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity?

T. Grebe, C. Clericuzio, 1996, American journal of medical genetics.

Prevalence of Autism Spectrum Disorders in Hispanic and Non-Hispanic White Children

S. Pettygrove, T. Grebe, C. Cunniff, 2012, Pediatrics.

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

A. Schäffer, E. Green, L. Biesecker, 1997, Journal of medical genetics.

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities

S. Szelinger, D. Craig, V. Narayanan, 2015, F1000Research.

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities

S. Szelinger, D. Craig, V. Narayanan, 2015, F1000Research.

Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection.

J. Trent, X. Guan, A. Sandberg, 1997, American journal of medical genetics.

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

E. Zackai, M. Deardorff, A. Telegrafi, 2018, American journal of medical genetics. Part A.

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

B. Graham, J. Abdenur, L. Wong, 2008, Molecular genetics and metabolism.

An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach

V. Narayanan, T. Grebe, K. Ramsey, 2016, Molecular genetics and metabolism reports.

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

A. Schäffer, J. Graham, S. Kang, 1996, Journal of medical genetics.

The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

L. Seaver, T. Grebe, G. Khushf, 2020, Genetics in Medicine.

Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.

T. Grebe, C. Clericuzio, Carol L Clericuzio, 2000, American journal of medical genetics.

Prenatal diagnosis of bilateral retinoblastomas by multimodality fetal imaging: case report and review of the literature.

T. Grebe, Aparna Ramasubramanian, Luis F. Goncalves, 2021, Clinical imaging.

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

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

15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature

T. A. Sivakumaran, T. Grebe, 2023, American journal of medical genetics. Part A.

A rational approach to cystic fibrosis mutation analysis in Hispanics: reply to Arzimanoglou et al.

W. W. Doane, W. Seltzer, T. Grebe, 1996, American journal of human genetics.

Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG).

E. Clayton, W. Grody, S. Topper, 2021, Genetics in Medicine.

A phenotypically diverse family with an atypical 22q11.2 deletion due to an unbalanced 18q23;22q11.2 translocation

Winnie S. Liang, Beate Peter, N. Scherer, 2021, American journal of medical genetics. Part A.

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities [version 1; referees: 2 approved]

S. Szelinger, V. Narayanan, M. Huentelman, 2015 .

Chronic pain in Noonan Syndrome: A previously unreported but common symptom

T. Grebe, R. Cotugno, Amber Williamson, 2015, American journal of medical genetics. Part A.

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

A. Schäffer, E. Green, L. Biesecker, 1997, Journal of medical genetics.