FrankJosephProbstMDPh.D.

PubMed

• 4 citations
  Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.
  Sureni V. Mullegama, Steven D Klein, Stephen R. Williams, Jeffrey W. Innis, Frank J. Probst, Chad R. Haldeman-Englert, Julian A. Martinez-Agosto, Ying Yang, Yuchen Tia...> ;Scientific Reports. 2021 May 28
• 23 citations
  Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
  Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloes, Amelle Shillington, Kosuke Izumi, A...> ;Genetics in Medicine. 2020 May 19
• 72 citations
  De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
  Margot R.F. Reijnders, Vasilios Zachariadis, Brooke L. Latour, Lachlan A. Jolly, G. M. S. Mancini, Rolph Pfundt, Ka Man Wu, Conny M. A. van Ravenswaaij-Arts, Hermine E...> ;American Journal of Human Genetics. 2016 Feb 4
• 16 citations
  Triangulating the sexually dimorphic brain through high-resolution neuroimaging of murine sex chromosome aneuploidies
  Armin Raznahan, Yanhe Lue, Frank J. Probst, Deanna Greenstein, Jay N. Giedd, Christina Wang, Jason P. Lerch, Ronald S. Swerdloff> ;Brain Structure & Function. 2015 Nov 1
• 8 citations
  De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations
  Frank J. Probst, Regis A. James, Lindsay C. Burrage, Jill A. Rosenfeld, T. P. Bohan, C. H. Ward Melver, Pilar L. Magoulas, Elise G. Austin, A. I. A. Franklin, Mahshid ...> ;Orphanet Journal of Rare Diseases. 2015 Jun 14
• 9 citations
  Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
  Avinash V. Dharmadhikari, Tomasz Gambin, Przemyslaw Szafranski, Wenjian Cao, Frank J. Probst, Weihong Jin, Ping Fang, Krzysztof Gogolewski, Anna Gambin, Jaya K George-...> ;BMC Medical Genetics. 2014 Dec 4
• 6 citations
  Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome.
  Jennifer E. Posey, Vedanta S. Dariya, Joseph L. Edmonds, Edward I. Lee, Frank J. Probst, Muralidhar H. Premkumar> ;European Journal of Pediatrics. 2014 Nov 12
• 80 citations
  Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies
  M. Marttila, Vilma-Lotta Lehtokari, Steven B. Marston, Tuula A. Nyman, Christine Barnerias, Alan H. Beggs, Enrico Bertini, OÖzge Ceyhan-Birsoy, Pascal Cintas, Marion G...> ;Human Mutation. 2014 May 1
• 91 citations
  Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
  Michael F. Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy J. Moss, Atul R. Chopra, Frank J. Probst, Fan Xia, Yaping Yang, Steven L. Werlin,...> ;Plos Genetics. 2014 Mar 27
• 90 citations
  Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
  Joanna Wiszniewska, Weimin Bi, Chad A. Shaw, Pawel Stankiewicz, Sung-Hae L. Kang, Amber N. Pursley, Seema R. Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai, Han...> ;European Journal of Human Genetics. 2014 Jan 1
• 6 citations
  A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus).
  Frank J. Probst, Rebecca R. Corrigan, Daniela del Gaudio, Andrew P. Salinger, Isabel Lorenzo, Simon S. Gao, Ilene Chiu, Anping Xia, John S. Oghalai, Monica J. Justice> ;Plos One. 2013 Nov 26
• 22 citations
  Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
  Sirisha Peddibhotla, Mohamed Khalifa, Frank J. Probst, Jennifer Stein, Leslie L. Harris, Debra L. Kearney, Gail H. Vance, Marilyn J. Bull, Dorothy K. Grange, Gunter Sc...> ;American Journal of Medical Genetics. Part A. 2013 Dec 1
• 29 citations
  High resolution whole brain imaging of anatomical variation in XO, XX, and XY mice.
  Armin Raznahan, Frank J. Probst, Mark R. Palmert, Jay N. Giedd, Jason P. Lerch> ;Neuroimage. 2013 Dec 1
• 5 citations
  Currents in contemporary bioethics. Identifying consanguinity through routine genomic analysis: reporting requirements.
  Amy L. McGuire, Melody J. Wang, Frank J. Probst> ;The Journal of Law, Medicine & Ethics. 2012 Dec 1
• 8 citations
  Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events
  Weimin Bi, Frank J. Probst, Joanna Wiszniewska, Katie Plunkett, Erin K. Roney, Brian S. Carter, M. Williams, Pawel Stankiewicz, Ankita Patel, Cathy A. Stevens, James R...> ;Journal of Medical Genetics. 2012 Nov 1
• 18 citations
  Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function
  Ayelet Erez, Frank J. Probst, Patricia I. Bader, Patricia Evans, Linda A. Baker, Ping Fang, Terry Bertin, Patricia Hixson, Pawel Stankiewicz, David L. Nelson, Ankita P...> ;Neurogenetics. 2012 Aug 14
• 69 citations
  Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivator.
  Harry J. Han, Carolyn C. Allen, Christie M. Buchovecky, Michael J. Yetman, Heather A. Born, Miguel A. Marin, Shaefali P. Rodgers, Bryan J. Song, Hui-Chen Lu, Monica J....> ;The Journal of Neuroscience. 2012 Aug 1
• 92 citations
  Mutation discovery in mice by whole exome sequencing
  Heather Fairfield, Griffith J Gilbert, Mary Barter, Rebecca R. Corrigan, Michelle Curtain, Yueming Ding, Mark D'Ascenzo, Daniel J. Gerhardt, Chao He, Wenhui Huang, Tod...> ;Genome Biology. 2011 Sep 14
• 1 citations
  Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
  Amy M. Breman, Frank J. Probst, Maria Blazo, Christian P. Schaaf, Erin K. Roney, William J. Craigen, Carlos A. Bacino, Sau Wai Cheung> ;American Journal of Medical Genetics. Part A. 2011 Jun 1
• 203 citations
  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 Nowakowsk...> ;Human Mutation. 2010 Dec 1
• 106 citations
  Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
  Przemyslaw Szafranski, Christian P. Schaaf, Richard E. Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema R. Lalani, ...> ;Human Mutation. 2010 Jul 1
• 363 citations
  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, Ga...> ;Journal of Medical Genetics. 2010 May 1
• 23 citations
  Mouse Mutagenesis with the Chemical Supermutagen ENU
  Frank J. Probst, Monica J. Justice> ;Methods in Enzymology. 2010 Jan 1
• 37 citations
  Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.
  Melissa K. Boles, Bonney Wilkinson, Laurens G. Wilming, Bin Liu, Frank J. Probst, Jennifer Harrow, Darren Grafham, Kathryn E. Hentges, Lanette S. Woodward, Andrea Maxw...> ;Plos Genetics. 2009 Dec 11
• 91 citations
  Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
  Sandesh C.S. Nagamani, Feng Zhang, Oleg A. Shchelochkov, Weimin Bi, Zhishuo Ou, Fernando Scaglia, Frank J. Probst, Marwan Shinawi, Christine M. Eng, Jill V. Hunter, St...> ;Journal of Medical Genetics. 2009 Jul 6
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