SuneetaMadan-KhetarpalMD

PubMed

• Congenital Disorder of Glycosylation in a Child with Macrosomia.
  Suneeta Madan-Khetarpal, Maio He, Parith Wongkittichote, Steven F Dobrowolski> ;Clinical Chemistry. 2023 Dec 1
• 3 citations
  The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
  Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, S...> ;Brain. 2023 Aug 1
• 1 citations
  A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
  Ying-Chen Claire Hou, Michael J Evenson, Meagan M Corliss, Lily Mahapatra, Ali Aldawood, David F Carpentieri, Sarah L Chamlin, Ann M Kulungowski, Suneeta Madan-Khetarp...> ;Genetics in Medicine. 2023 Mar 1
• Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots.
  Mahmoud Aarabi, Jacqueline Baumann, Melanie Babcock, Elena Kessler, Jessica Sebastian, Suneeta Madan-Khetarpal, Jie Hu, Zhishuo Ou, Svetlana Yatsenko> ;Psychiatric Genetics. 2022 Oct 1
• 6 citations
  GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
  Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Yue Hua, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael A ...> ;The Journal of Clinical Investigation. 2022 Oct 3
• 8 citations
  De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
  Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Lina Zhao, Haowei Du, Emily Calamaro, Amanda Gerard, Sen Zhao, Jill Kelsay, Ashley Lahr, Chl...> ;NPJ Genomic Medicine. 2021 Dec 7
• 6 citations
  A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.
  Sharavana Gurunathan, Jessica Sebastian, Jennifer Baker, Hoda Z. Abdel-Hamid, Shawn C. West, Brian Feingold, Vivek S. Peche, Miguel Reyes-Múgica, Suneeta Madan-Khetarp...> ;American Journal of Medical Genetics. Part A. 2021 Dec 4
• 8 citations
  Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
  Chun-An Chen, John Lattier, Wenmiao Zhu, Jill A. Rosenfeld, Lei Wang, Tiana M. Scott, Haowei Du, Vipulkumar Patel, Anh Dang, Pilar L. Magoulas, Haley Streff, Jessica S...> ;Genetics in Medicine. 2021 Nov 1
• 13 citations
  CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
  Michelle E. Ernst, Evan H. Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Nicholas Stong, Maureen S. Mulhern, Sulagna Kushary, Cigdem I. Akman, Erin L. Heinzen, Ray...> ;Epilepsia. 2021 May 26
• 1 citations
  Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
  Jun Liao, Keith A. Coffman, Joseph Locker, Quasar S Padiath, Bruce Nmezi, Robyn A. Filipink, Jie Hu, Malini Sathanoori, Suneeta Madan-Khetarpal, Marianne McGuire, Alli...> ;Molecular Genetics & Genomic Medicine. 2021 Mar 5
• 44 citations
  SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
  Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andres Hernandez-Garcia, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam...> ;American Journal of Human Genetics. 2021 Mar 4
• 6 citations
  A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis
  Fady P. Marji, Jennifer Hall, Erin Anstadt, Suneeta Madan-Khetarpal, Jesse A. Goldstein, Joseph E. Losee> ;Journal of Pediatric Genetics. 2021 Mar 1
• 2 citations
  Copy number alterations involving 59 ACMG‐recommended secondary findings genes
  Mahmoud Aarabi, Jie Hu, Urvashi Surti, Damara Ortiz, Suneeta Madan-Khetarpal, Devereux N. Saller, Daniel B. Bellissimo, Aleksandar Rajkovic> ;Clinical Genetics. 2020 Oct 10
• 8 citations
  Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
  Ximena Montenegro-Garreaud, Adam W. Hansen, Michael M. Khayat, Varuna Chander, Christopher M. Grochowski, Yunyun Jiang, He Li, Tadahiro Mitani, Elena Kessler, Joy Jaya...> ;Human Mutation. 2020 Sep 15
• 2 citations
  Ocular findings of albinism in DYRK1A-related intellectual disability syndrome.
  Julia Ernst, Michelle L Alabek, Amgad Eldib, Suneeta Madan-Khetarpal, Jessica Sebastian, Aashim Bhatia, Alkiviades Liasis, Ken K. Nischal> ;Ophthalmic Genetics. 2020 Aug 24
• 22 citations
  Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations
  Megan E. Rech, John M. McCarthy, Chun-An Chen, Jane C. Edmond, Veeral Shah, Daniëlle G. M. Bosch, Gerard T. Berry, Linford Williams, Suneeta Madan-Khetarpal, Dmitriy N...> ;American Journal of Medical Genetics. Part A. 2020 Apr 10
• Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (Genetics in Medicine, (2019), 21, ...
  Alexandria T.M. Blackburn, Nasim Bekheirnia, Vanessa C. Uma, Mark E. Corkins, Yuxiao Xu, Jill A. Rosenfeld, Matthew N. Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Ma...> ;Genetics in Medicine. 2020 Apr 1
• 35 citations
  Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
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• 6 citations
  Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
  Jie Hu, Zhishuo Ou, Urvashi Surti, Sally J. Kochmar, Lori Hoffner, Suneeta Madan-Khetarpal, Georgianne L. Arnold, Leslie Walsh, Roxanne Acquaro, Jessica Sebastian, Sve...> ;American Journal of Medical Genetics. Part A. 2020 Jan 8
• 7 citations
  DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
  Alexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, Mark E Corkins, Yuxiao Xu, Jill A Rosenfeld, Matthew N Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Madan-K...> ;Genetics in Medicine. 2019 Dec 1
• 12 citations
  Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.
  Lina Ghaloul-Gonzalez, Al-Walid Mohsen, Anuradha Karunanidhi, Bianca Seminotti, Hey Chong, Suneeta Madan-Khetarpal, Jessica Sebastian, Catherine Walsh Vockley, Miguel ...> ;Scientific Reports. 2019 Oct 31
• 25 citations
  Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
  Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D J Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutie...> ;Molecular Autism. 2019 Oct 22
• 25 citations
  Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
  Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A. Gillentine, Cenying Liu, Hailun Ni, Pengw...> ;Science Advances. 2019 Sep 25
• 5 citations
  RASopathy in Patients With Isolated Sagittal Synostosis
  Amani A Davis, Giulio Zuccoli, Mostafa M. Haredy, Joseph E. Losee, Ian F. Pollack, Suneeta Madan-Khetarpal, Jesse A. Goldstein, Ken K. Nischal> ;Global Pediatric Health. 2019 May 12
• 11 citations
  Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.
  Mahmoud Aarabi, Elena Kessler, Suneeta Madan-Khetarpal, Urvashi Surti, Daniel B. Bellissimo, Aleksandar Rajkovic> ;European Journal of Medical Genetics. 2019 Apr 1
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