RogerLLaddaMD

PubMed

• 1 citations
  Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
  Allen, J., Garber, K., Perszyk, R., Khayat, C., Kell, S., Kaneko, M., Quindipan, C., Saitta, S., Ladda, R., Hewson, S., Inbar-Feigenberg, M., Prasad, C., Prasad, A., O...> ;Human Molecular Genetics. 2024 Feb 1
• 1 citations
  Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
  Vani Jain, Seow Hoong Foo, Stephen Chooi, Celia Moss, Richard Goodwin, Siren Berland, Angus J Clarke, Sally J Davies, Sian Corrin, Oliver Murch, Samantha Doyle, Gail E...> ;European Journal of Human Genetics. 2023 Dec 1
• 4 citations
  POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
  Kelly Smallwood, Kristin E N Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P Adam, Amber Begtrup, Debora R Ber...> ;American Journal of Human Genetics. 2023 May 4
• 1 citations
  Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
  Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Jos P N Ruiter, Alida E M van Lint, Mia Pras-Raves, Eric Wever, Francisca Mill...> ;Genetics in Medicine. 2021 Dec 1
• 3 citations
  PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
  Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Fizza Akbar, Shahnaz Ibrahim, Bushra Afroze, Mohammad Doosti...> ;Genetics in Medicine. 2021 Jun 10
• 5 citations
  Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings.
  Rea Mittal, Ashutosh Kumar, Roger L. Ladda, Gayatra Mainali, Ermal Aliu> ;Child Neurology Open. 2021 Nov 10
• 26 citations
  An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
  Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Jos P N Ruiter, Alida E M van Lint, Mia Pras-Raves, Eric Wever, Francisca Mill...> ;Genetics in Medicine. 2021 Apr 1
• 51 citations
  Redefining the Etiologic Landscape of Cerebellar Malformations.
  Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson, Ghayda M. Mirzaa, James T. Bennett, Alexander B. Rosenberg, Charles M. Roco, Matthew Hirano, Fatima Abidi, Part...> ;American Journal of Human Genetics. 2019 Sep 5
• 24 citations
  HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans
  Floor A. M. Duijkers, Andrew McDonald, Georges E. Janssens, Marco Lezzerini, Aldo Jongejan, Silvana van Koningsbruggen, Wendela G. Leeuwenburgh-Pronk, Marcin W. Wlodar...> ;American Journal of Human Genetics. 2019 Jun 6
• 2 citations
  Failure to Thrive: An Expanded Differential Diagnosis.
  Alexandra Lazzara, Carrie Daymont, Roger L. Ladda, Jordan Lull, Can Ficicioglu, Jennifer L. Cohen, Justen Aprile> ;Journal of Pediatric Genetics. 2019 Mar 1
• 9 citations
  Erratum: De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental...
  Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda H. Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio...> ;American Journal of Human Genetics. 2019 Feb 7
• 14 citations
  De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
  Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska van Belle, Sonja A de Munnik, Ernie M H F Bongers, Jolanda H Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, H...> ;American Journal of Human Genetics. 2019 Jan 3
• 41 citations
  Major depression, antidepressant use, and male and female fertility.
  E.A. Evans-Hoeker, Esther Eisenberg, Michael P. Diamond, Richard S. Legro, Ruben Alvero, Christos Coutifaris, Peter R. Casson, Gregory M. Christman, Karl R. Hansen, He...> ;Fertility and Sterility. 2018 May 1
• 26 citations
  Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
  Nataliya Di Donato, Alma Kuechler, Samantha A. Schrier Vergano, Wolfram Heinritz, Joann Bodurtha, Sabiha Merchant, Galen N. Breningstall, Roger L. Ladda, Susan Sell, J...> ;American Journal of Medical Genetics. Part A. 2016 May 30
• 2 citations
  Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A.
  Priti G. Dalal, Melissa Coleman, Meagan Horst, Dorothy V. Rocourt, Roger L. Ladda, Piotr K. Janicki> ;F1000research. 2015 Dec 10
• 32 citations
  Assessment of multiple intrauterine gestations from ovarian stimulation (AMIGOS) trial: Baseline characteristics
  Michael P. Diamond, Richard S. Legro, Christos Coutifaris, Ruben Alvero, Randal D. Robinson, Peter Casson, Gregory M. Christman, Joel W. Ager, Hao Huang, Karl R. Hanse...> ;Fertility and Sterility. 2015 Apr 1
• 49 citations
  The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
  Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant, Karen W. Gripp, Carol E. Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christi...> ;American Journal of Medical Genetics. Part A. 2013 Aug 1
• 8 citations
  Prosthodontic management of hypohidrotic ectodermal dysplasia with anodontia: a case report in pediatric patient and review of literature.
  Roger L. Ladda, SA Gangadhar, Vikrant O Kasat, Aruna J. Bhandari> ;Annals of Medical and Health Sciences Research. 2013 Apr 1
• 120 citations
  Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
  Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt...> ;American Journal of Human Genetics. 2013 Feb 7
• 53 citations
  Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.
  Eugen Matthias Strehle, Linbo Yu, Jill A. Rosenfeld, Sandra Donkervoort, Yulin Zhou, Tian Jian Chen, Jose E. Martinez, Yao Shan Fan, Deborah Barbouth, Hongbo Zhu, Alic...> ;American Journal of Medical Genetics. Part A. 2012 Sep 1
• 79 citations
  Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
  Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra J Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy A...> ;Human Mutation. 2012 Apr 1
• 98 citations
  High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with ...
  Blake C. Ballif, Jill A. Rosenfeld, Ryan N. Traylor, Aaron Theisen, Patricia I. Bader, Roger L. Ladda, Susan Sell, Michelle Steinraths, Urvashi Surti, Marianne McGuire...> ;Human Genetics. 2012 Jan 1
• 177 citations
  The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
  Suhrad G. Banugaria, Sean N. Prater, Yiu Ki Ng, Joyce A. Kobori, Richard S. Finkel, Roger L. Ladda, Yuan-Tsong Chen, Amy S. Rosenberg, Priya S. Kishnani> ;Genetics in Medicine. 2011 Aug 1
• 2 citations
  Mosaic trachea in a child with trisomy 9 mosaicism
  John P. Gniady, Glenn Isaacson, Roger L. Ladda> ;International Journal of Pediatric Otorhinolaryngology. 2010 Oct 1
• 104 citations
  Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria
  Mary O'Driscoll, Sarah B. Daly, Jill E. Urquhart, Graeme C.M. Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada M H Abdel-Salam, Maha S. Zaki, Nicole I....> ;American Journal of Human Genetics. 2010 Sep 10
• Join now to see all