Table of Contents page: Genetics in Medicine

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Volume 25, In Progress

Commentaries

The value of intersectionality for genomic research on human behavior

Lucas J. Matthews,
Daphne O. Martschenko,
Maya Sabatello

Published online: April 20, 2023

100860

Articles

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

Cosima M. Schmid,
Anne Gregor,
Gregory Costain,
...
Care4Rare Canada,
Wendy K. Chung,
Christiane Zweier

Published online: April 10, 2023

100839

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

Margot R.F. Reijnders,
Annette Seibt,
Melanie Brugger,
...
Ronald Roepman,
James A. Poulter,
Felix Distelmaier

Published online: April 10, 2023

100838

Open Access

The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy

Carole A. Samango-Sprouse,
Mary P. Hamzik,
Eliana Gropman,
...
Alexa M. Taylor,
Teresa Sadeghin,
Andrea L. Gropman

Published online: April 12, 2023

100847

De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy

Lydia von Wintzingerode,
Bruria Ben-Zeev,
Claudia Cesario,
...
Heinrich Sticht,
Rami Abou Jamra,
Henry Oppermann

Published online: April 20, 2023

100859

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

Bobby K. Brar,
Michael B. Bober,
Ethan Gough,
...
Cory Smid,
Janet M. Legare,
Julie E. Hoover-Fong

Published online: April 12, 2023

100845

Barriers to completion of expanded carrier screening in an inner city population

Tirtza S. Strauss,
Emily Schneider,
Emily Boniferro,
...
Graham Ashmead,
Zainab Al-ibraheemi,
Lois Brustman

Published online: April 20, 2023

100858

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use

Lauriane Le Collen,
Brigitte Delemer,
Christine Poitou,
...
Johanne Le Beyec-Le Bihan,
Philippe Froguel,
Amélie Bonnefond

Published online: April 20, 2023

100857

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

Anne-Sophie Denommé-Pichon,
Stephan C. Collins,
Ange-Line Bruel,
...
Christophe Philippe,
Laurence Faivre,
Binnaz Yalcin

Published online: March 28, 2023

100835

Open Access

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July 2023

Volume 25, In Progress

Commentaries

The value of intersectionality for genomic research on human behavior

Articles

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy

De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

Barriers to completion of expanded carrier screening in an inner city population

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse