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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiencySaskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
HGG Advances|April 30, 2026
Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in miceKassidy E Grover, Zoe R Cappel, Avery Volz, et al.
European Journal of Human Genetics : EJHG|October 17, 2022
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathyTamara T Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, et al.
Biorxiv : the Preprint Server for Biology|December 25, 2025
Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in miceKassidy E Grover, Zoe R Cappel, Avery Volz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactylyRhonda E Schnur, Sairah Yousaf, James Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2022
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndromeFrancis Ramond, Caroline Dalgliesh, Mona Grimmel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouseAnne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, et al.
American Journal of Human Genetics|April 2, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentVincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, et al.
Neuron|March 15, 2020
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different MechanismsHyung-Lok Chung, Michael F Wangler, Paul C Marcogliese, et al.
Nature Genetics|July 14, 2015
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorderAlexander J Abrams, Robert B Hufnagel, Adriana Rebelo, et al.
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