Publications by authors named "Roger Ladda"

Claim this Profile
D
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE CAUSE A NEURODEVELOPMENTAL DISORDER.
Wallid Deb, Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Roger L Ladda

medRxiv· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
James P Allen, Kathryn B Garber, Riley Perszyk, Cara T Khayat, Steven A Kell, Roger L Ladda

Hum Mol Genet· February 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
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, Roger L Ladda

Eur J Hum Genet· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Kelly Smallwood, Kristin E N Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Roger Ladda

Am J Hum Genet· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
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, Roger L Ladda

Genet Med· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings.
Rea Mittal, Ashutosh Kumar, Roger Ladda, Gayatra Mainali, Ermal Aliu

Child Neurol Open· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Camille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, Ehsan Ghayoor Karimiani, Salman Kirmani, Roger L Ladda

Genet Med· October 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
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, Roger L Ladda

Genet Med· April 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Redefining the Etiologic Landscape of Cerebellar Malformations.
Kimberly A Aldinger, Andrew E Timms, Zachary Thomson, Ghayda M Mirzaa, James T Bennett, Roger L Ladda

Am J Hum Genet· September 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
Floor A Duijkers, Andrew McDonald, Georges E Janssens, Marco Lezzerini, Aldo Jongejan, Roger L Ladda

Am J Hum Genet· June 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Failure to Thrive: An Expanded Differential Diagnosis.
Alexandra Lazzara, Carrie Daymont, Roger Ladda, Jordan Lull, Can Ficicioglu

J Pediatr Genet· March 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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, Roger Ladda

Am J Hum Genet· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
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, Roger Ladda

Am J Hum Genet· January 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
U
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Nataliya Di Donato, Alma Kuechler, Samantha Vergano, Wolfram Heinritz, Joann Bodurtha, Roger Ladda

Am J Med Genet A· October 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A.
Priti G Dalal, Melissa Coleman, Meagan Horst, Dorothy Rocourt, Roger L Ladda

F1000Res· February 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
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 Grant, Karen W Gripp, Carol Anderson, Roger Ladda

Am J Med Genet A· August 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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, Roger Ladda

Am J Hum Genet· February 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.
Eugen-Matthias Strehle, Linbo Yu, Jill A Rosenfeld, Sandra Donkervoort, Yulin Zhou, Roger L Ladda

Am J Med Genet A· September 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
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, Roger Ladda

Hum Mutat· April 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, Aaron Theisen, Patricia I Bader, Roger L Ladda

Hum Genet· January 2012

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
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

Genet Med· August 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
"
"Mosaic trachea" in a child with trisomy 9 mosaicism.
John P Gniady, Glenn Isaacson, Roger L Ladda

Int J Pediatr Otorhinolaryngol· October 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Mary C O'Driscoll, Sarah B Daly, Jill E Urquhart, Graeme C M Black, Daniela T Pilz, Roger L Ladda

Am J Hum Genet· September 2010

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature.
Joel Verbrugge, Arabinda Kumar Choudhary, Roger Ladda

Am J Med Genet A· October 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Hershey Medical Center Technical Workshop Report: optimizing the design and interpretation of epidemiologic studies for assessing neurodevelopmental effects from in utero chemical exposure.
Robert W Amler, Stanley Barone, Aysenil Belger, Cheston M Berlin, Christopher Cox, Roger Ladda

Neurotoxicology· September 2006

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis