Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina

Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly

CELLS

IF5.2

2023-02-165

OAAI

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

在近亲的巴基斯坦家庭中，ERCC8中的一种新的错义突变与小脑共济失调共分离

CELLS

IF5.2

2022-09-301

OAAI

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-07-0115

OAAI

Asif, Maria; Kaygusuz, Emrah; Shinawi, Marwan; Nickelsen, Anna; Hsieh, Tzung-Chien; Wagle, Prerana; Budde, Birgit S.; Hochscherf, Jennifer; Abdullah, Uzma; Honing, Stefan; Nienberg, Christian; Lindenblatt, Dirk; Noegel, Angelika A.; Altmuller, Janine; Thiele, Holger; Motameny, Susanne; Fleischer, Nicole; Segal, Idan; Pais, Lynn; Tinschert, Sigrid; Samra, Nadra Nasser; Savatt, Juliann M.; Rudy, Natasha L.; De Luca, Chiara; Fortugno, Paola; White, Susan M.; Krawitz, Peter; Hurst, Anna C. E.; Niefind, Karsten; Jose, Joachim; Brancati, Francesco; Nurnberg, Peter; Hussain, Muhammad Sajid

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (vol 108, pg 739, 2021)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2022-03-010

OAAI

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

GENETICS IN MEDICINE

IF6.2

2021-11-0114

OAAI

Iqbal, Maria; Maroofian, Reza; Cavdarli, Busranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal K.; Li, Yun; Hertecant, Jozef; Baig, Shahid Mahmood; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Ali, Zafar; de Almeida, Tobias Scherf; Molinari, Florence; Mignon-Ravix, Cecile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair T.; Jackson, Adam; Douzgou, Sofia; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid Mahmood; Sultan, Tipu; Alvi, Javeria Raza; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika A.; Budde, Birgit; Altmueller, Janine; Motameny, Susanne; Hoehne, Wolfgang; Houlden, Henry; Nuernberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan Sami; Osmond, Matthew; Hussain, Muhammad Sajid; Yigit, Gokhan

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-04-0116

OAAI

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42

HUMAN MUTATION

IF3.7

2019-05-245

OAAI

Mutations of KIF14 cause primary microcephaly by impairing cytokinesis

ANNALS OF NEUROLOGY