LakshmiMehtaMD

PubMed

• 7 citations
  Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy
  Tania Ruiz Maya, Veronica Fettig, Lakshmi Mehta, Bruce D. Gelb, Amy R Kontorovich> ;American Journal of Medical Genetics. Part A. 2021 Jul 30
• 17 citations
  Headaches in hypermobility syndromes: A pain in the neck?
  Anuj Malhotra, Anna Pace, Tania Ruiz Maya, Rachel Colman, Bruce D. Gelb, Lakshmi Mehta, Amy R Kontorovich> ;American Journal of Medical Genetics. Part A. 2020 Sep 17
• 36 citations
  Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients
  Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M....> ;Journal of Human Genetics. 2019 Dec 1
• 3 citations
  Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.
  Lisong Shi, Yan Bai, Yara Kharbutli, Andrea M. Oza, Sami S. Amr, Lisa Edelmann, Lakshmi Mehta, Stuart A. Scott> ;Molecular Genetics & Genomic Medicine. 2019 Jun 19
• 10 citations
  Molecular Genetics of Noonan Syndrome and RASopathies.
  Jun Liao, Lakshmi Mehta> ;Pediatric Endocrinology Reviews. 2019 May 1
• 1 citations
  Clinical Manifestations of Noonan Syndrome and Related Disorders.
  Margo Sheck Breilyn, Lakshmi Mehta> ;Pediatric Endocrinology Reviews. 2019 May 1
• 12 citations
  In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
  Daniel C. Koboldt, Rama D. Kastury, Megan A. Waldrop, Benjamin J. Kelly, Theresa Mihalic Mosher, Heather M. McLaughlin, Don Corsmeier, Jonathan L. Slaughter, Kevin M. ...> ;Cold Spring Harbor Molecular Case Studies. 2018 Oct 1
• 6 citations
  Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN
  Rachel D. Burnside, Sharon Molinari, Christina Botti, Susan Sklower Brooks, Wendy K. Chung, Lakshmi Mehta, Stuart Schwartz, Peter Papenhausen> ;American Journal of Medical Genetics. Part A. 2018 Sep 1
• 4 citations
  Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation.
  Edith Schussler, Rita V. Linkner, Jacob Levitt, Lakshmi Mehta, John A. Martignetti, Kimihiko Oishi> ;Advances in Genomics and Genetics. 2018 Jun 27
• 10 citations
  Hereditary Renal Diseases
  Lakshmi Mehta, Belinda Jim> ;Seminars in Nephrology. 2017 Jul 1
• 9 citations
  Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA.
  Jennifer Reiner, Lisa Karger, Ninette Cohen, Lakshmi Mehta, Lisa Edelmann, Stuart A. Scott> ;The Journal of Molecular Diagnostics. 2017 May 1
• 18 citations
  Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
  Lisong Shi, Bryn D. Webb, Ashley H Birch, L. Elkhoury, J. McCarthy, Xiaoqiang Cai, Kimihiko Oishi, Lakshmi Mehta, George A. Diaz, Lisa Edelmann, Ruth Kornreich> ;Clinical Genetics. 2017 Apr 1
• 6 citations
  Genetic Techniques in the Evaluation of Short Stature
  Christopher J. Romero, Lakshmi Mehta, Robert Rapaport> ;Endocrinology and Metabolism Clinics of North America. 2016 Jun 1
• 6 citations
  ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories
  Jinlian Wang, Jun Liao, Jinglan Zhang, Wei-Yi Cheng, Jörg Hakenberg, Meng Ma, Bryn D. Webb, Rajasekar Ramasamudram-chakravarthi, Lisa Karger, Lakshmi Mehta, Ruth Kornr...> ;Genome Medicine. 2015 Jul 29
• 57 citations
  CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein
  Anne Slavotinek, Julie Kaylor, Heather Pierce, Michelle Cahr, Stephanie J DeWard, Dina Schneidman-Duhovny, Adnan Alsadah, Fadi Salem, Gabriela Schmajuk, Lakshmi Mehta> ;American Journal of Human Genetics. 2015 Jan 8
• 13 citations
  A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.
  Bryn D. Webb, Tracy Brandt, Liu Liu, Chaim Jalas, Jun Liao, Anastasia Fedick, Michael D. Linderman, George A. Diaz, Ruth Kornreich, H. Trachtman, Lakshmi Mehta, Lisa E...> ;Clinical Genetics. 2014 Aug 1
• 14 citations
  Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade.
  Carolyn A. Brydon, Julia C Conway, Rochelle R. Kling, Lakshmi Mehta, Ethylin Wang Jabs, Peter J. Taub> ;The Journal of Craniofacial Surgery. 2014 Sep 1
• 16 citations
  Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
  Anastasia Fedick, Lisong Shi, Chaim Jalas, Nathan R. Treff, Josef Ekstein, Ruth Kornreich, Lisa Edelmann, Lakshmi Mehta, S.A. Savage> ;Clinical Genetics. 2015 Aug 1
• 15 citations
  46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.
  Tracy Brandt, Leah Blanchard, Khyati Desai, Saroj Nimkarn, Ninette Cohen, Lisa Edelmann, Lakshmi Mehta> ;European Journal of Medical Genetics. 2013 Nov 1
• 56 citations
  Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
  Amy Yang, Bobby G. Ng, Steven A. Moore, Jeffrey S. Rush, Charles J. Waechter, Kimiyo Raymond, Tobias Willer, Kevin P. Campbell, Hudson H. Freeze, Lakshmi Mehta> ;Molecular Genetics and Metabolism. 2013 Nov 1
• 25 citations
  Atypical Chediak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.
  James D. Weisfeld-Adams, Lakshmi Mehta, Janet C. Rucker, Francine R. Dembitzer, Arnold H. Szporn, Fred D. Lublin, Wendy J. Introne, Vikas Bhambhani, Michael C Chicka, ...> ;Orphanet Journal of Rare Diseases. 2013 Mar 22
• 28 citations
  8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
  John C K Barber, Jill A. Rosenfeld, Nicola Foulds, Sophie R. Laird, Mark S. Bateman, N. Simon Thomas, Samantha Baker, Viv K. Maloney, Arayamparambil C. Anilkumar, Wend...> ;American Journal of Medical Genetics. Part A. 2013 Mar 1
• 22 citations
  Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1
  James D. Weisfeld-Adams, Lisa Edelmann, Inder K. Gadi, Lakshmi Mehta> ;European Journal of Medical Genetics. 2012 Dec 1
• 15 citations
  Complex autism spectrum disorder in a patient with a 17q12 microduplication.
  Tracy Brandt, Khyati Desai, David Grodberg, Lakshmi Mehta, Ninette Cohen, Ana Tryfon, Alexander Kolevzon, Latha Soorya, Joseph D. Buxbaum, Lisa Edelmann> ;American Journal of Medical Genetics. Part A. 2012 Apr 4
• 4 citations
  Mandibular distraction in the setting of chromosome 4q deletion
  Peter J. Taub, Michael Wolfeld, Jessica Cohen-Pfeffer, Lakshmi Mehta> ;Journal of Plastic, Reconstructive & Aesthetic Surgery. 2012 Apr 1
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Journal Articles

• Features of Feingold Syndrome 1 Dominate in Subjects with 2p Deletions Including MYCN  
  Susan Sklower Brooks, Lakshmi Mehta, Christina Botti, American Journal of Medical Genetics Part A