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Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease
JAMA CARDIOLOGY null; ?(?):?
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Kolvenbach CM, van der Ven AT, Kause F, Shril S, Scala M, Connaughton DM, Mann N, Nakayama M, Dai RF, Kitzler TM, Schneider R, Schierbaum L, Schneider S, Accogli A, Torella A, Piatelli G, Nigro V, Capra V, Hoppe B, Marzheuser S, Schmiedeke E, Rehm HL, Mane S, Lifton RP, Dworschak GC
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
AMERICAN JOURNAL OF MEDICAL GENETICS PART A null; ?(?):?
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Ogishi M, Yang R, Aytekin C, Langlais D, Bourgey M, Khan T, Al Ali F, Rahman M, Delmonte OM, Chrabieh M, Zhang P, Gruber C, Pelham SJ, Spaan AN, Rosain J, Lei WT, Drutman S, Hellmann MD, Callahan MK, Adamow M, Wong P, Wolchok JD, Rao G, Ma CS, Nakajima Y
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child
NATURE MEDICINE null; ?(?):?
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Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu JM, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou CC, Zhang JH, Li BY
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (vol 52, pg 1046, 2020)
NATURE GENETICS null; ?(?):?
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Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong WL, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li BY, Zhao HY, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen YH
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease
JAMA NEUROLOGY 2021 AUG; 78(8):993-1003
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Drzewiecki K, Choi J, Brancale J, Leney-Greene MA, Sari S, Dalgic B, Aksu AU, Sahin GL, Ozen A, Baris S, Karakoc-Aydiner E, Jain D, Kleiner D, Schmalz M, Radhakrishnan K, Zhang JH, Hoebe K, Su HC, Pereira JP, Lenardo MJ, Lifton RP, Vilarinho S
GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension
JOURNAL OF EXPERIMENTAL MEDICINE 2021 JUL 5; 218(7):? Article e20201745
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Ward T, Tai W, Morton S, Impens F, Van Damme P, Van Haver D, Timmerman E, Venturini G, Zhang KH, Jang MY, Willcox JAL, Haghighi A, Gelb BD, Chung WK, Goldmuntz E, Porter GA, Lifton RP, Brueckner M, Yost HJ, Bruneau BG, Gorham J, Kim Y, Pereira A, Homsy J, Benson CC
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency
CIRCULATION RESEARCH 2021 APR 16; 128(8):1156-1169
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Choi J, Manzano A, Dong WL, Bellone S, Bonazzoli E, Zammataro L, Yao XT, Deshpande A, Zaidi S, Guglielmi A, Gnutti B, Nagarkatti N, Tymon-Rosario JR, Harold J, Mauricio D, Zeybek B, Menderes G, Altwerger G, Jeong K, Zhao SM, Buza N, Hui P, Ravaggi A, Bignotti E, Romani C
Integrated mutational landscape analysis of uterine leiomyosarcomas
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 2021 APR 13; 118(15):? Article e2025182118
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Hwang JY, Nawaz S, Choi J, Wang HF, Hussain S, Nawaz M, Lopez-Giraldez F, Jeong K, Dong WL, Oh JN, Bilguvar K, Mane S, Lee CK, Bystroff C, Lifton RP, Ahmad W, Chung JJ
Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY 2021 APR 23; 9(?):? Article 662903
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Seidel E, Schewe J, Zhang JH, Dinh HA, Forslund SK, Marko L, Hellmig N, Peters J, Muller DN, Lifton RP, Nottoli T, Stolting G, Scholl UI
Enhanced Ca2+ signaling, mild primary aldosteronism, and hypertension in a familial hyperaldosteronism mouse model (Cacna1h(M1560V/+))
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 2021 APR 27; 118(17):? Article e2014876118
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