未登录Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency
Riedhammer, Korbinian M.; Burgemeister, Anna L.; Cantagrel, Vincent; Amiel, Jeanne; Siquier, Karine; Boddaert, Nathalie; Hertecant, Jozef; Kannouche, Patricia L.; Pouvelle, Caroline; Htun, Stephanie; Slavotinek, Anne M.; Beetz, Christian; Diego-Alvarez, Dan; Kampe, Kapil; Fleischer, Nicole; Awamleh, Zain; Weksberg, Rosanna; Kopajtich, Robert; Meitinger, Thomas; Suleiman, Jehan; El-Hattab, Ayman W. .png)
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收藏Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesIqbal, 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 分享 收藏 Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1TALDO1突变儿童的肝病和肝细胞癌风险Grammatikopoulos, Tassos; Hadzic, Nedim; Foskett, Pierre; Strautnieks, Sandra; Samyn, Marianne; Vara, Roshni; Dhawan, Anil; Hertecant, Jozef; Al Jasmi, Fatma; Rahman, Obydur; Deheragoda, Maesha; Bull, Laura N.; Thompson, Richard J. 分享 收藏 De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy与严重发育性和癫痫性脑病相关的从头SCN8A和遗传性罕见CACNA1H变体Stringer, Robin N.; Jurkovicova-Tarabova, Bohumila; Souza, Ivana A.; Ibrahim, Judy; Vacik, Tomas; Fathalla, Waseem Mahmoud; Hertecant, Jozef; Zamponi, Gerald W.; Lacinova, Lubica; Weiss, Norbert 分享 收藏 Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (vol 13, 22, 2020)Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M.; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J.; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A.; Banka, Siddharth 分享 收藏 A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeCuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M.; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J.; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A.; Banka, Siddharth 分享 收藏 Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases大脑中UGP2的缺失导致严重的癫痫性脑病，强调必需基因的双等位基因亚型特异性起始缺失突变可导致遗传性疾病Perenthaler, Elena; Nikoncuk, Anita; Yousefi, Soheil; Berdowski, Woutje M.; Alsagob, Maysoon; Capo, Ivan; van der Linde, Herma C.; van den Berg, Paul; Jacobs, Edwin H.; Putar, Darija; Ghazvini, Mehrnaz; Aronica, Eleonora; van IJcken, Wilfred F. J.; de Valk, Walter G.; Medici-van den Herik, Evita; van Slegtenhorst, Marjon; Brick, Lauren; Kozenko, Mariya; Kohler, Jennefer N.; Bernstein, Jonathan A.; Monaghan, Kristin G.; Begtrup, Amber; Torene, Rebecca; Al Futaisi, Amna; Al Murshedi, Fathiya; Mani, Renjith; Al Azri, Faisal; Kamsteeg, Erik-Jan; Mojarrad, Majid; Eslahi, Atieh; Khazaei, Zaynab; Darmiyan, Fateme Massinaei; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Vandrovcova, Jana; Zafar, Faisal; Rana, Nuzhat; Kandaswamy, Krishna K.; Hertecant, Jozef; Bauer, Peter; AlMuhaizea, Mohammed A.; Salih, Mustafa A.; Aldosary, Mazhor; Almass, Rawan; Al-Quait, Laila; Qubbaj, Wafa; Coskun, Serdar; Alahmadi, Khaled O.; Hamad, Muddathir H. A.; Alwadaee, Salem; Awartani, Khalid; Dababo, Anas M.; Almohanna, Futwan; Colak, Dilek; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Gunel, Murat; Ercan-Sencicek, A. Gulhan; Passi, Gouri Rao; Cheema, Huma Arshad; Efthymiou, Stephanie; Houlden, Henry; Bertoli-Avella, Aida M.; Brooks, Alice S.; Retterer, Kyle; Maroofian, Reza; Kaya, Namik; van Ham, Tjakko J.; Barakat, Tahsin Stefan 分享 收藏 RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMendes, Marisa, I; Green, Lydia M. C.; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H.; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Daniela; Taroni, Franco; Koenig, Mary K.; Moroni, Isabella; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rhee, Jullie; Mendelsohn, Bryce A.; Helbig, Ingo; Helbig, Katherine; Muhle, Hiltrud; Ismayl, Omar; Vanderver, Adeline L.; Salomons, Gajja S.; van der Knaap, Marjo S.; Wolf, Nicole, I 分享 收藏 Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolismAl-Dirbashi, Osamay; Alfadhel, Majid; Al-Thihli, Khalid; Al Dhahouri, Nahid; Langhans, Claus-Dieter; Al Hammadi, Zalikha; Al-Shamsi, Aisha; Hertecant, Jozef; Okun, Juergen G.; Hoffmann, Georg F.; Al-Jasmi, Fatma 分享 收藏 Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionPPP1R21中功能变体的双等位基因丢失导致神经发育综合征，内吞功能受损Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al-Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; Wu, Kaman; Al-Jasmi, Fatma; Helmstaedter, Martin; Arnold, Sebastian J.; Xia, Fan; Richmond, Christopher; Liu, Pengfei; Karimiani, Ehsan Ghayoor; Madani, GholamReza Karami; Lunke, Sebastian; El-Shanti, Hatem; Eng, Christine M.; Antonarakis, Stylianos E.; Hertecant, Jozef; Walkiewicz, Magdalena; Yang, Yaping; Schmidts, Miriam 分享 收藏 EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndromePathak, Sagar J.; Mueller, James L.; Okamoto, Kevin; Das, Barun; Hertecant, Jozef; Greenhalgh, Lynn; Cole, Trevor; Pinsk, Vered; Yerushalmi, Baruch; Gurkan, Odul E.; Yourshaw, Michael; Hernandez, Erick; Oesterreicher, Sandy; Naik, Sandhia; Sanderson, Ian R.; Axelsson, Irene; Agardh, Daniel; Boland, C. Richard; Martin, Martin G.; Putnam, Christopher D.; Sivagnanam, Mamata 分享 收藏 Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategiesRodan, Lance H.; Hauptman, Marissa; D'Gama, Alissa M.; Qualls, Anita E.; Cao, Siqi; Tuschl, Karin; Al-Jasmi, Fatma; Hertecant, Jozef; Hayflick, Susan J.; Wessling-Resnick, Marianne; Yang, Edward T.; Berry, Gerard T.; Gropman, Andrea; Woolf, Alan D.; Agrawal, Pankaj B. 分享 收藏 MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspectsEl-Hattab, Ayman W.; Wang, Julia; Dai, Hongzheng; Almannai, Mohammed; Staufner, Christian; Alfadhel, Majid; Gambello, Michael J.; Prasun, Pankaj; Raza, Saleem; Lyons, Hernando J.; Afqi, Manal; Saleh, Mohammed A. M.; Faqeih, Eissa A.; Alzaidan, Hamad I.; Alshenqiti, Abduljabbar; Flore, Leigh Anne; Hertecant, Jozef; Sacharow, Stephanie; Barbouth, Deborah S.; Murayama, Kei; Shah, Amit A.; Lin, Henry C.; Wong, Lee-Jun C. 分享 收藏 Phenotypic and Molecular Spectrum of Aicardi-Goutieres Syndrome: A Study of 24 PatientsAl Mutairi, Fuad; Alfadhel, Majid; Nashabat, Marwan; El-Hattab, Ayman W.; Ben-Omran, Tawfeg; Hertecant, Jozef; Eyaid, Wafaa; Ali, Rehab; Alasmari, Ali; Kara, Majdi; Al-Twaijri, Waleed; Filimban, Rana; Alshenqiti, Abduljabbar; Al-Owain, Mohammed; Faqeih, Eissa; Alkuraya, Fowzan S. 分享 收藏 Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiencyYau, Mabel; Haider, Shozeb; Khattab, Ahmed; Ling, Chen; Mathew, Mehr; Zaidi, Samir; Bloch, Madison; Patel, Monica; Ewert, Sinead; Abdullah, Wafa; Toygar, Aysenur; Mudryi, Vitalii; Al Badi, Maryam; Alzubdi, Mouch; Wilson, Robert C.; Al Azkawi, Hanan Said; Ozdemir, Hatice Nur; Abu-Amer, Wahid; Hertecant, Jozef; Razzaghy-Azar, Maryam; Funder, John W.; Al Senani, Aisha; Sun, Li; Kim, Se-Min; Yuen, Tony; Zaidi, Mone; New, Maria I. 分享 收藏 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile deathMIPEP隐性变异导致左心室致密化不全，肌张力低下和婴儿死亡的综合征Eldomery, Mohammad K.; Akdemir, Zeynep C.; Voegtle, F. -Nora; Charng, Wu-Lin; Mulica, Patrycja; Rosenfeld, Jill A.; Gambin, Tomasz; Gu, Shen; Burrage, Lindsay C.; Al Shamsi, Aisha; Penney, Samantha; Jhangiani, Shalini N.; Zimmerman, Holly H.; Muzny, Donna M.; Wang, Xia; Tang, Jia; Medikonda, Ravi; Ramachandran, Prasanna V.; Wong, Lee-Jun; Boerwinkle, Eric; Gibbs, Richard A.; Eng, Christine M.; Lalani, Seema R.; Hertecant, Jozef; Rodenburg, Richard J.; Abdul-Rahman, Omar A.; Yang, Yaping; Xia, Fan; Wang, Meng C.; Lupski, James R.; Meisinger, Chris; Sutton, V. Reid 分享 收藏 分享 收藏 分享 收藏 Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway diseaseLee, Melissa; Vecchio-Pagan, Briana; Sharma, Neeraj; Waheed, Abdul; Li, Xiaopeng; Raraigh, Karen S.; Robbins, Sarah; Han, Sangwoo T.; Franca, Arianna L.; Pellicore, Matthew J.; Evans, Taylor A.; Arcara, Kristin M.; Hien Nguyen; Luan, Shan; Belchis, Deborah; Hertecant, Jozef; Zabner, Joseph; Sly, William S.; Cutting, Garry R. 分享 收藏 A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch developmentNahorski, Michael S.; Al-Gazali, Lihadh; Hertecant, Jozef; Owen, David J.; Borner, Georg H. H.; Chen, Ya-Chun; Benn, Caroline L.; Carvalho, Ofelia P.; Shaikh, Samiha S.; Phelan, Anne; Robinson, Margaret S.; Royle, Stephen J.; Woods, C. Geoffrey 分享 收藏 
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