F
Frank J. Probst
Researcher at Baylor College of Medicine
Publications - 41
Citations - 3329
Frank J. Probst is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Mutation & Copy-number variation. The author has an hindex of 25, co-authored 41 publications receiving 3066 citations. Previous affiliations of Frank J. Probst include University of Michigan & Boston Children's Hospital.
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Journal ArticleDOI
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Marwan Shinawi,Pengfei Liu,Sung Hae L. Kang,Joseph J. Shen,John W. Belmont,Daryl A. Scott,Frank J. Probst,William J. Craigen,Brett H. Graham,Amber Pursley,Gary D. Clark,Jennifer A. Lee,Monica Proud,Amber Stocco,Diana L. Rodriguez,Beth A. Kozel,Steven Sparagana,Elizabeth Roeder,Susan G. McGrew,Thaddeus W. Kurczynski,Leslie J. Allison,Stephen Amato,Sarah Savage,Ankita Patel,Pawel Stankiewicz,Arthur L. Beaudet,Sau Wai Cheung,James R. Lupski +27 more
TL;DR: Recurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity and support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders.
Journal ArticleDOI
Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3
Aihui Wang,Yong Liang,Robert A. Fridell,Frank J. Probst,Edward R. Wilcox,Jeffrey W. Touchman,Cynthia C. Morton,Robert J. Morell,Konrad Noben-Trauth,Sally A. Camper,Thomas B. Friedman +10 more
TL;DR: A human unconventional myosin gene, MYO15, was identified by combining functional and positional cloning approaches in searching for shaker-2 and DFNB3, revealing two missense mutations and one nonsense mutation that cosegregated with congenital recessive deafness.
Journal ArticleDOI
Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene
Frank J. Probst,Robert A. Fridell,Yehoash Raphael,Thomas L. Saunders,Aihui Wang,Yong Liang,Robert J. Morell,Jeffrey W. Touchman,Robert H. Lyons,Konrad Noben-Trauth,Thomas B. Friedman,Sally A. Camper +11 more
TL;DR: Shaker-2 mice were found to have an amino acid substitution at a highly conserved position within the motor domain of this myosin this article, which suggests that Myo15 is necessary for actin organization in the hair cells of the cochlea.
Journal ArticleDOI
Detection of clinically relevant exonic copy‐number changes by array CGH
Philip M. Boone,Carlos A. Bacino,Chad A. Shaw,Patricia A. Eng,Patricia Hixson,Amber N. Pursley,Sung Hae L. Kang,Yaping Yang,Joanna Wiszniewska,Beata Nowakowska,Beata Nowakowska,Daniela del Gaudio,Zhilian Xia,Gayle Simpson-Patel,La Donna Immken,James B. Gibson,Anne C.H. Tsai,Jennifer A. Bowers,Tyler Reimschisel,Christian P. Schaaf,Lorraine Potocki,Fernando Scaglia,Tomasz Gambin,Tomasz Gambin,Maciej Sykulski,Maciej Sykulski,Magdalena Bartnik,Katarzyna Derwińska,Barbara Wisniowiecka-Kowalnik,Seema R. Lalani,Frank J. Probst,Weimin Bi,Arthur L. Beaudet,Ankita Patel,James R. Lupski,Sau Wai Cheung,Pawel Stankiewicz +36 more
TL;DR: The utility of a custom‐designed, exon‐targeted oligonucleotide array to detect intragenic copy‐number changes in patients with various clinical phenotypes is demonstrated.
Journal ArticleDOI
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.
Yong Liang,Yong Liang,Aihui Wang,Aihui Wang,Inna A. Belyantseva,David W. Anderson,Frank J. Probst,Thomas D. Barber,Thomas D. Barber,Webb Miller,Jeffrey W. Touchman,Long Jin,Susan L. Sullivan,James R. Sellers,Sally A. Camper,Ricardo V. Lloyd,Bechara Kachar,Thomas B. Friedman,Robert A. Fridell +18 more
TL;DR: In this paper, the genomic and mRNA structures of the human (myO15) and mouse (Myo15) myosin XV genes were determined by combining direct cDNA analyses with a comparison of 95.2 kb of genomic DNA sequence from human chromosome 17p11.2 and 88.4 kb from the homologous region on mouse chromosome 11.