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HGG Advances
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April 26, 2022
Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Andrew K Sobering, Laura M Bryant, Dong Li, et al.
European Journal of Human Genetics : EJHG
|
November 16, 2021
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Anne-Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, et al.
European Journal of Medical Genetics
|
July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
American Journal of Human Genetics
|
October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
Adrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
European Journal of Human Genetics : EJHG
|
April 4, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
Christel Thauvin-Robinet, Aurore Garde, Maud Favier, et al.
BMJ Open
|
October 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
Camille Level, Christel Thauvin-Robinet, Christine Binquet, et al.
American Journal of Human Genetics
|
May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Alban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2021
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, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 26, 2020
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, et al.
Page
of 9
Search research articles
Search
Showing results (51-60 of 83) with videos related to
Sort By:
Page
of 9
HGG Advances
|
April 26, 2022
Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Andrew K Sobering, Laura M Bryant, Dong Li, et al.
European Journal of Human Genetics : EJHG
|
November 16, 2021
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Anne-Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, et al.
European Journal of Medical Genetics
|
July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
American Journal of Human Genetics
|
October 15, 2020
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
Adrian Palencia-Campos, Phillip C Aoto, Erik M F Machal, et al.
European Journal of Human Genetics : EJHG
|
April 4, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
Christel Thauvin-Robinet, Aurore Garde, Maud Favier, et al.
BMJ Open
|
October 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
Camille Level, Christel Thauvin-Robinet, Christine Binquet, et al.
American Journal of Human Genetics
|
May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Alban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2021
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, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 26, 2020
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, et al.
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of 9