LaDonnaLImmkenMD

PubMed

• 4 citations
  Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
  Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, Dean Sarco, Sara Cherny, Emily Bryant, Laura Schultz-Rogers, Wendy K Chung, Stephanie Sacharow, Ladonna L...> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• 8 citations
  Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
  Xenia Latypova, Marie Vincent, Alice Molle, Oluwadamilare A. Adebambo, Cynthia Fourgeux, Tahir N. Khan, Alfonso Caro, Mónica Roselló, Carmen Orellana, Dmitriy Niyazov,...> ;American Journal of Human Genetics. 2021 May 6
• 24 citations
  Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Genetics in Medicine. 2021 Mar 3
• 7 citations
  Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
  Lisa Emrick, Jill A. Rosenfeld, Seema R. Lalani, Mahim Jain, Nilesh K. Desai, Austin Larson, Kimberly A. Kripps, Adeline Vanderver, Ryan J. Taft, Krista Bluske, Denise...> ;Genetics in Medicine. 2019 Jul 1
• 45 citations
  Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
  Bo Yuan, Juanita Neira, Davut Pehlivan, Teresa Santiago-Sim, Xiaofei Song, Jill A. Rosenfeld, Jennifer E. Posey, Vipulkumar Patel, Weihong Jin, Margaret P. Adam, Emma ...> ;Genetics in Medicine. 2019 Mar 1
• 48 citations
  Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
  Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa Mihalic Mosher, Anne Slavo...> ;Annals of Clinical and Translational Neurology. 2018 Sep 15
• 2 citations
  Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
  Samin A. Sajan, Zöe Powis, Katherine L. Helbig, Honey Nagakura, LaDonna Immken, Sha Tang, Wendy Alcaraz> ;Clinical Case Reports. 2018 May 8
• 21 citations
  Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
  Zöe Powis, K.D. Farwell Hagman, Cameron Mroske, Kirsty McWalter, Julie S. Cohen, R. Colombo, Alessandro Serretti, Ali Fatemi, K.L. David, J.F. Reynolds, L. Immken, H. ...> ;Clinical Genetics. 2018 Apr 1
• 11 citations
  De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)
  Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle C...> ;American Journal of Human Genetics. 2018 Jan 4
• 113 citations
  Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
  Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P. Bar...> ;American Journal of Human Genetics. 2018 Jan 4
• 20 citations
  A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
  Elizabeth E. Palmer, Raman Kumar, Christopher T. Gordon, Marie Shaw, Laurence Hubert, Renee Carroll, Marlène Rio, Lucinda Murray, Melanie Leffler, Tracy Dudding-Byth, ...> ;American Journal of Human Genetics. 2017 Dec 7
• 19 citations
  De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
  Davor Lessel, Claudia Schob, Sébastien Küry, Margot R F Reijnders, Tamar Harel, Mohammad K Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle Col...> ;American Journal of Human Genetics. 2017 Nov 2
• 45 citations
  Identification of novel candidate disease genes from de novo exonic copy number variants
  Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren De...> ;Genome Medicine. 2017 Sep 21
• 18 citations
  MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
  Karthika Balasubramanian, Bing Li, Deborah Krakow, Lisette Nevarez, Patric J. Ho, Julia A. Ainsworth, Deborah A. Nickerson, Michael J. Bamshad, LaDonna Immken, Ralph S...> ;American Journal of Medical Genetics. Part A. 2017 Jul 25
• 45 citations
  Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Human Genetics. 2017 Apr 6
• 42 citations
  Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder
  Francisca Millan, Megan T. Cho, Kyle Retterer, Kristin G. Monaghan, Renkui Bai, Patrik Vitazka, David B. Everman, Brooke T. Smith, Brad Angle, Victoria Roberts, LaDonn...> ;American Journal of Medical Genetics. Part A. 2016 Jul 1
• 38 citations
  Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
  Sirisha Peddibhotla, Sandesh C.S. Nagamani, Ayelet Erez, Jill V. Hunter, J. Lloyd Holder, Mary E. Carlin, Patricia I. Bader, Helene M.F. Perras, Judith Allanson, Lesli...> ;European Journal of Human Genetics. 2015 Jan 11
• 33 citations
  Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
  Claudia M.B. Carvalho, Shivakumar Vasanth, Marwan Shinawi, Chad Russell, Melissa B. Ramocki, Chester W. Brown, Jesper Graakjaer, Anne-Bine Skytte, Angela Maria Vianna-...> ;American Journal of Human Genetics. 2014 Nov 6
• 8 citations
  Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay
  Jens Witsch, Przemyslaw Szafranski, Chun-An Chen, LaDonna Immken, Gayle Patel, Patricia Hixson, Sau Wai Cheung, Pawel Stankiewicz, Christian P. Schaaf> ;European Journal of Human Genetics. 2013 Nov 1
• 34 citations
  TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
  Wojciech Wiszniewski, Jill V. Hunter, Neil A. Hanchard, Jason R. Willer, Chad A. Shaw, Qi Tian, Anna Illner, Xueqing Wang, Sau Wai Cheung, Ankita Patel, Ian M. Campbel...> ;American Journal of Human Genetics. 2013 Aug 8
• 11 citations
  Clinical Comparison of Overlapping Deletions of 19p13.3
  Hiba Risheg, Romela Pasion, Stephanie Sacharow, Virginia K. Proud, LaDonna Immken, Stuart Schwartz, Jim Tepperberg, Peter Papenhausen, Tiong Yang Tan, Joris Andrieux, ...> ;American Journal of Medical Genetics. Part A. 2013 May 1
• 163 citations
  Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
  Martin H. Berryer, Fadi F. Hamdan, Laura L. Klitten, Rikke S. Møller, Lionel Carmant, Jeremy Schwartzentruber, Lysanne Patry, Sylvia Dobrzeniecka, Daniel Rochefort, Ma...> ;Human Mutation. 2013 Feb 1
• 37 citations
  Deletions in chromosome 6p22.3-p24.3, including ATXN1 , are associated with developmental delay and autism spectrum disorders
  Patrícia B. S. Celestino-Soper, Cindy Skinner, Richard J. Schroer, Patricia A. Eng, Jayant P. Shenai, Malgorzata M.J. Nowaczyk, Deborah Terespolsky, Donna Cushing, Gay...> ;Molecular Cytogenetics. 2012 Apr 5
• 321 citations
  Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
  Pengfei Liu, Ayelet Erez, Sandesh C.S. Nagamani, Shweta U. Dhar, Katarzyna E. Kolodziejska, Avinash V. Dharmadhikari, M. Lance Cooper, Joanna Wiszniewska, Feng Zhang, ...> ;Cell. 2011 Sep 16
• 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
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Journal Articles

• Clinical Exome Sequencing Reveals Locus Heterogeneity and Phenotypic Variability of Cohesinopathies  
  Scott E Hickey, Leah Slattery, James R Lupski, Margaret P Adam, Olivia Wenger, Davut Pehlivan, Laura Martin, Farida Abid, Dorothy Grange, Jennifer E Posey, Alison A Be..., Nature