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Brain

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Acta Neuropathologica

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Caroline Alby, Kevin Piquand, Céline Huber, +27

The American Journal of Human Genetics

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Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Zinan Zhang, Florian Gothe, Perrine Pennamen, +25

The Journal of Experimental Medicine

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerrière, Dana Jaber, Emanuela Abiusi, +86

Journal of Medical Genetics

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Justine Besseau-Ayasse, C. Violle-Poirsier, Anne Bazin, +39

Prenatal Diagnosis

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

Tiong Yang Tan, Claudia Gonzaga‐Jauregui, Elizabeth Bhoj, +31

The American Journal of Human Genetics

Monoallelic Bmp2 VariantsCraniofacial DisorderGenetic DisorderGeneticsCardiac Features Overlapping +7

Contribution of referent pathologists to the quality of trophoblastic diseases diagnosis

François Golfier, Jérôme Clerc, Touria Hajri, +12

Human Reproduction

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

Laura Mary, Kirsley Chennen, Corinne Stoetzel, +27

Clinical Genetics

Reduced Placental Telomere Length during Pregnancies Complicated by Intrauterine Growth Restriction

Jérôme Toutain, Martina Prochazkova‐Carlotti, David Cappellen, +11

PLoS ONE