F. Probst

发表

Strain Background Influences Neurotoxicity and Behavioral Abnormalities in Mice Expressing the Tetracycline Transactivator

Michael J. Yetman, Christie M. Buchovecky, M. Justice, 2012, Journal of Neuroscience.

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

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

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

P. Stankiewicz, E. Roeder, Ankita Patel, 2009, Journal of Medical Genetics.

Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome.

Monica J Justice, M. L. Cooper, S. Cheung, 2008, The Journal of heredity.

Triangulating the sexually dimorphic brain through high-resolution neuroimaging of murine sex chromosome aneuploidies

J. Lerch, J. Giedd, D. Greenstein, 2015, Brain Structure and Function.

Dietary thyroid hormone replacement ameliorates hearing deficits in hypothyroid mice

Y. Raphael, L. Beyer, S. Camper, 2007, Mammalian Genome.

Discovery of Candidate Disease Genes in ENU–Induced Mouse Mutants by Large-Scale Sequencing, Including a Splice-Site Mutation in Nucleoredoxin

Kathryn E. Hentges, J. Harrow, T. Hubbard, 2009, PLoS genetics.

University of Groningen De Novo Loss-of-Function Mutations in USP 9 X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

R. Pfundt, M. Reijnders, J. Gécz, 2018 .

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

R. Pfundt, M. Reijnders, J. Gécz, 2016, American journal of human genetics.

Mouse mutagenesis with the chemical supermutagen ENU.

M. Justice, F. Probst, 2010, Methods in enzymology.

Skewed X‐inactivation in carriers establishes linkage in an X‐linked deafness–mental retardation syndrome

Donna M. Martin, J. Douglas, D. M. Martin, 2004 .

Exclusion of PITX2 mutations as a major cause of CHARGE association.

Donna M. Martin, J. Belmont, S. Camper, 2002, American journal of medical genetics.

Currents in Contemporary Bioethics

A. McGuire, F. Probst, Melody Wang, 2012, Journal of Law, Medicine & Ethics.

Characterisation and genetic mapping of a new X linked deafness syndrome

D. M. Martin, E. Petty, S. Camper, 2000, Journal of medical genetics.

A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).

J. Lupski, T. Friedman, S. Camper, 1999, Genomics.

Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis

P. Stankiewicz, Ankita Patel, S. Cheung, 2013, American journal of medical genetics. Part A.

Triangulating the sexually dimorphic brain through high-resolution neuroimaging of murine sex chromosome aneuploidies

J. Lerch, J. Giedd, D. Greenstein, 2015, Brain Structure and Function.

The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.

Y. Raphael, D. W. Anderson, L. Beyer, 2000, Human molecular genetics.

The role of mouse mutants in the identification of human hereditary hearing loss genes

S. Camper, F. Probst, 1999, Hearing Research.

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, J. Lupski, R. Gibbs, 2014, PLoS genetics.

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

P. Stankiewicz, P. Szafranski, S. Cheung, 2014, BMC Medical Genetics.

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

P. Stankiewicz, J. Wiszniewska, Ankita Patel, 2013, European Journal of Human Genetics.

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

C. Morton, J. Touchman, T. Friedman, 1998, Science.

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

Stephen R. Williams, C. Haldeman-Englert, T. Ezashi, 2021, Scientific Reports.

Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.

Y. Raphael, J. Touchman, T. Friedman, 1998, Science.

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

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

High resolution whole brain imaging of anatomical variation in XO, XX, and XY mice

Jay N. Giedd, Jason P. Lerch, Frank Probst, 2013, NeuroImage.

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events

P. Stankiewicz, J. Wiszniewska, Ankita Patel, 2012, Journal of Medical Genetics.

Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.

W. Miller, D. W. Anderson, J. Touchman, 1999, Genomics.

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

J. Lupski, T. Barber, T. Friedman, 1998, American journal of human genetics.

Construction of a 3-Mb contig and partial transcript map of the central region of mouse chromosome 11.

D. Watkins-Chow, S. Camper, M. Buckwalter, 1997, Genomics.

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation

Z. Ou, M. L. Cooper, E. Roeder, 2007, American journal of medical genetics. Part A.

Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

Z. Ou, P. Stankiewicz, Ankita Patel, 2009, Journal of Medical Genetics.

Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome

J. Posey, E. Lee, F. Probst, 2014, European Journal of Pediatrics.

Mutation discovery in mice by whole exome sequencing

E. Mauceli, F. Di Palma, K. Lindblad-Toh, 2011, Genome Biology.

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

C. Shaw, S. Cheung, T. Bohan, 2015, Orphanet Journal of Rare Diseases.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Transgene correction maintains normal cochlear structure and function in 6-month-old Myo15a mutant mice

Y. Raphael, L. Beyer, S. Camper, 2006, Hearing Research.

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.

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.

Donna M. Martin, Y. Raphael, L. Beyer, 2003, Human molecular genetics.

Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

E. Bertini, K. Pelin, E. Mercuri, 2014, Human mutation.

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q

S. Cheung, W. Craigen, C. Schaaf, 2011, American journal of medical genetics. Part A.

Hair cells in the inner ear of the pirouette and shaker 2 mutant mice

E. H. Lambert, Y. Raphael, L. Beyer, 2000, Journal of neurocytology.

Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

P. Stankiewicz, Ankita Patel, S. Cheung, 2012, neurogenetics.

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

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

Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis

P. Stankiewicz, Ankita Patel, M. Bull, 2013, American journal of medical genetics. Part A.