Article

A clinical and genotype-phenotype analysis of MACF1 variants.

American journal of human genetics - 2 Oct 2025

Dekker Jordy, Schot Rachel, Aldinger Kimberly A, Everman David B, Washington Camerun, Jones Julie R, Sullivan Jennifer A, Spillmann Rebecca C, Shashi Vandana, Vitobello Antonio, Denommé-Pichon Anne-Sophie, Mosca-Boidron Anne-Laure, Perrin Laurence, Auvin Stéphane, Zaki Maha S, Gleeson Joseph G, Meave Naomi, Wallace Cassidy, Nambot Sophie, Delanne Julian, Ruggiero Sarah M, Helbig Ingo, Fitzgerald Mark P, Leventer Richard J, Grange Dorothy K, Argilli Emanuela, Sherr Elliott H, Prakash Supraja, Neilson Derek E, Nicita Francesco, Sferra Antonella, Bertini Enrico S, Aiello Chiara, Brockmann Knut, Kuranov Alexander B, Kaulfuss Silke, Basit Sulman, Alluqmani Majed, Almatrafi Ahmad, Friedman Jan M, Guimond Colleen, Mohammed Faruq, Sharma Pooja, Goel Divya, Wirth Thomas, Anheim Mathieu, Bahena Paulina, Koparir Asuman, Kolokotronis Konstantinos, Vona Barbara, Haaf Thomas, Kunstmann Erdmute, Maroofian Reza, Sczakiel Henrike L, Boschann Felix, Misra-Isrie Mala, Louie Raymond J, Stolerman Elliot S, Sanchez-Lara Pedro A, Mergler Sandra, Oegema Renske, Zarate Yuri A, Kariminejad Ariana, Tajsharghi Homa, Zeidler Shimriet, Kievit Anneke J A, Bouman Arjan, Cappuccio Gerarda, Brunetti-Pierri Nicola, Stuurman Kyra E, Swols Dayna Morel, Tekin Mustafa, Upadia Jariya, Martin Donna M, Craven Daniel, Hiatt Susan M, van de Pol Laura A, D'Arco Felice, Margot Henri, Wilke Martina, Yousefi Soheil, Barakat Tahsin Stefan, van Veghel-Plandsoen Monique M, Aronica Eleonora, Anink Jasper, Rogers Stephen L, Slep Kevin C, Doherty Dan, Dobyns William B, Mancini Grazia M S