Louise S Bicknell

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 19

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Tyrosine Kinase

Top Venues

European journal of human genetics : EJHG

Journal of medical genetics

American journal of medical genetics. Part A

Journal of human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Y Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, null null, Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
A second hotspot for pathogenic exon-skipping variants in CDC45. European journal of human genetics : EJHG 32 (7) (2024)
Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Y Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, null null, Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
A second hotspot for pathogenic exon-skipping variants in CDC45. European journal of human genetics : EJHG 32 (7) (2024)
Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Y Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, null null, Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
A second hotspot for pathogenic exon-skipping variants in CDC45. European journal of human genetics : EJHG 32 (7) (2024)
Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Y Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, null null, Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
A second hotspot for pathogenic exon-skipping variants in CDC45. European journal of human genetics : EJHG 32 (7) (2024)
Kelly Schoch, Mischa S G Ruegg, Bridget J Fellows, Joseph Y Cao, Sabine Uhrig, Stephanie Einsele-Scholz, Saskia Biskup, Samuel R A Hawarden, Vincenzo Salpietro, Valeria Capra, null null, Chris M Brown, Andrea Accogli, Vandana Shashi, Louise S Bicknell
A second hotspot for pathogenic exon-skipping variants in CDC45. European journal of human genetics : EJHG (2024)
Karen Knapp, Nihar Naik, Sankalita Ray, Gijs van Haaften, Louise S Bicknell
Histones: coming of age in Mendelian genetic disorders. Journal of medical genetics 60 (3) (2023)
Meghan R Mulligan, Louise S Bicknell
The molecular genetics of nELAVL in brain development and disease. European journal of human genetics : EJHG (2023)
Karen Knapp, Nihar Naik, Sankalita Ray, Gijs van Haaften, Louise S Bicknell
Histones: coming of age in Mendelian genetic disorders. Journal of medical genetics (2023)
Bridget J Fellows, Giovanna Cantini Tolezano, Sara Ferreira Pires, Mischa S G Ruegg, Karen M Knapp, Ana Cristina Victorino Krepischi, Louise S Bicknell
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly. American journal of medical genetics. Part A (2023)
Karen Knapp, Nihar Naik, Sankalita Ray, Gijs van Haaften, Louise S Bicknell
Histones: coming of age in Mendelian genetic disorders. Journal of medical genetics 60 (3) (2023)
Emily Nielsen-Dandoroff, Mischa S G Ruegg, Louise S Bicknell
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome. European journal of human genetics : EJHG (2023)
Karen Knapp, Nihar Naik, Sankalita Ray, Gijs van Haaften, Louise S Bicknell
Histones: coming of age in Mendelian genetic disorders. Journal of medical genetics 60 (3) (2023)
Shannon Carter, Bridget J Fellows, Kate Gibson, Louise S Bicknell
Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome. European journal of human genetics : EJHG 30 (10) (2022)
Karen M Knapp, Danielle E Jenkins, Rosie Sullivan, Frederike L Harms, Leonie von Elsner, Charlotte W Ockeloen, Sonja de Munnik, Ernie M H F Bongers, Jennie Murray, Nicholas Pachter, Jonas Denecke, Kerstin Kutsche, Louise S Bicknell
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. European journal of human genetics : EJHG 29 (7) (2021)
Alexander J M Blakes, Emily Gaul, Wayne Lam, Nora Shannon, Karen M Knapp, Louise S Bicknell, Meremaihi R Jackson, Emma M Wade, Stephen P Robertson, Susan M White, Raoul Heller, Andrew Chase, Diana Baralle, Andrew G L Douglas
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European journal of human genetics : EJHG 29 (4) (2020)
Karen M Knapp, Jennie Murray, I Karen Temple, Louise S Bicknell
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. American journal of medical genetics. Part A 185 (3) (2020)
Karen M Knapp, Rebecca Luu, Melissa Baerenfaenger, Fokje Zijlstra, Hans J C T Wessels, Danielle Jenkins, Dirk J Lefeber, Katherine Neas, Louise S Bicknell
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability. Journal of human genetics 65 (9) (2020)
Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G Wilson, Andrew P Jackson, Carlos Ferreira, Louise S Bicknell
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. Journal of medical genetics 57 (3) (2019)
Karen M Knapp, Gemma Poke, Danielle Jenkins, Werner Truter, Louise S Bicknell
Expanding the phenotypic spectrum associated with DPF2: A new case report. American journal of medical genetics. Part A 179 (8) (2019)