James Lupski
Baylor College of Medicine
H-index: 156
North America-United States
Top articles of James Lupski
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder | Genetics in Medicine | Reza Maroofian Mina Zamani Rauan Kaiyrzhanov Lutz Liebmann Ehsan Ghayoor Karimiani | 2024/3/1 |
Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder | Clinical genetics | Mohammed Almannai Dana Marafi Maha S Zaki Reza Maroofian Stephanie Efthymiou | 2024/2/14 |
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis | Journal of Experimental Medicine | Michael E Horesh Marta Martin-Fernandez Conor Gruber Sofija Buta Tom Le Voyer | 2024/4/2 |
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles | medRxiv | Sissy Bassani Jacqueline Chrast Giovanna Ambrosini Norine Voisin Frédéric Schütz | 2024 |
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS | medRxiv | Avinash V Dharmadhikari Maria Alba Abad Sheraz Khan Reza Maroofian Tristan T Sands | 2024 |
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt | The American Journal of Human Genetics | James L Shepherdson Katie Hutchison Dilan Wellalage Don George McGillivray Tae-Ik Choi | 2024/2/5 |
Defining and Reducing Variant Classification Disparities | medRxiv | Moez Dawood Shawn Fayer Sriram Pendyala Mason Post Divya Kalra | 2024 |
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature | Priya T Bhola Radha Mishra Jennifer E Posey Leslie E Hamilton Gail E Graham | 2024/3 | |
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders | Brain | Rauan Kaiyrzhanov Aboulfazl Rad Sheng-Jia Lin Aida Bertoli-Avella Wouter W Kallemeijn | 2024/4 |
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders | medRxiv | Daniel G Calame Jovi Huixin Wong Puravi Panda Dat Tuan Nguyen Nancy CP Leong | 2024 |
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data | Nucleic Acids Research | Haowei Du Zain Dardas Angad Jolly Christopher M Grochowski Shalini N Jhangiani | 2024/2/28 |
Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations | Proceedings of the National Academy of Sciences | Xin Feng Yongyu Ye Jianan Zhang Yuanqiang Zhang Sen Zhao | 2024/4/30 |
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for … | Genetics in Medicine | Mengqi Ma Mythily Ganapathi Yiming Zheng Kai-Li Tan Oguz Kanca | 2024/3/21 |
Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency | Journal of Allergy and Clinical Immunology | Joshua B Alinger Emily M Mace Justin R Porter Annelise Y Mah-Som Allyssa L Daugherty | 2024/1/1 |
P634: Exonic SVs driven by Alu/Alu-mediated genomic rearrangements contribute on a large scale to alleles underlying human Mendelian rare disease traits | Genetics in Medicine Open | Ruizhi Duan Haowei Du Zain Dardas James Lupski | 2024/1/1 |
β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination | The Journal of Immunology | Abigail E Reed Jackeline Peraza Frederique van den Haak Evelyn R Hernandez Richard A Gibbs | 2024/2/5 |
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders | BMC Medical Genomics | Tugce Bozkurt-Yozgatli Davut Pehlivan Richard A Gibbs Ugur Sezerman Jennifer E Posey | 2024/4/16 |
Clinical and molecular characterization of patients with YWHAG‐related epilepsy | Peer Review | Aline Sampaio Jamel Erich Vinicius De Paula Gabriela Góes Yamaguti Hayakawa Hayakawa Nelson Abrahim Fraiji José Pereira de Moura Neto | 2024/1/19 |
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability | The American Journal of Human Genetics | María del Rocío Pérez Baca Eva Z Jacobs Lies Vantomme Pontus Leblanc Elke Bogaert | 2024/2/26 |
The impact of the Turkish population variome on the genomic architecture of rare disease traits | Genetics in Medicine Open | Zeynep Coban-Akdemir Xiaofei Song Francisco C Ceballos Davut Pehlivan Ender Karaca | 2024/1/1 |
