Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.
Blood Advances
Kalot, Mohamad A MA; Husainat, Nedaa N; Abughanimeh, Omar O; Diab, Osama O; El Alayli, Abdallah A; Tayiem, Sammy S; Madoukh, Bader B; Dimassi, Ahmad A; Qureini, Aref A; Ameer, Barbara B; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicky V; Konkle, Barbara A BA; McRae, Simon S; Montgomery, Robert R; O'Donnell, James S JS; Brignardello-Petersen, Romina R; Flood, Veronica V; Connell, Nathan T NT; James, Paula P; Mustafa, Reem A RA
Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations.
Blood Advances
Sadler, Brooke B; Minard, Charles C; Haller, Gabe G; Gurnett, Christina A CA; O'Brien, Sarah H SH; Wheeler, Allison P AP; Jain, Shilpa S; Sharma, Mukta M; Zia, Ayesha A; Kulkarni, Roshni R; Mullins, Eric S ES; Ragni, Margaret V MV; Sidonio, Robert Francis RF; Dietrich, Jennifer E JE; Kouides, Peter P; Di Paola, Jorge J; Srivaths, Lakshmi Venkat LV
Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations.
Blood Advances
Sadler, Brooke B; Minard, Charles G CG; Haller, Gabe G; Gurnett, Christina A CA; O'Brien, Sarah H SH; Wheeler, Allison A; Jain, Shilpa S; Sharma, Mutka M; Zia, Ayesha A; Kulkarni, Roshni R; Mullins, Eric E; Ragni, Margaret V MV; Sidonio, Robert R; Dietrich, Jennifer E JE; Kouides, Peter A PA; Di Paola, Jorge J; Srivaths, Lakshmi L
Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Journal Of Thrombosis And Haemostasis : Jth
Maas, Dominique P M S M DPMSM; Atiq, Ferdows F; Blijlevens, Nicole M A NMA; Brons, Paul P T PPT; Krouwel, Sandy S; Laros-van Gorkom, Britta A P BAP; Leebeek, Frank W G FWG; Nieuwenhuizen, Laurens L; Schoormans, Selene C M SCM; Simons, Annet A; Meijer, Daniëlle D; van Heerde, Waander L WL; Schols, Saskia E M SEM
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Publication Date: 2021
Variant appearance in text: VWF: D1472H; rs1800383
ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease.
Blood Advances
James, Paula D PD; Connell, Nathan T NT; Ameer, Barbara B; Di Paola, Jorge J; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicki V; Konkle, Barbara B; McLintock, Claire C; McRae, Simon S; R Montgomery, Robert R; O'Donnell, James S JS; Scappe, Nikole N; Sidonio, Robert R; Flood, Veronica H VH; Husainat, Nedaa N; Kalot, Mohamad A MA; Mustafa, Reem A RA
Molecular coevolution of coagulation factor VIII and von Willebrand factor.
Blood Advances
Zakas, Philip M PM; Coyle, Christopher W CW; Brehm, Anja A; Bayer, Marion M; Solecka-Witulska, Barbara B; Radford, Caelan E CE; Brown, Christine C; Nesbitt, Kate K; Dwyer, Courtney C; Kannicht, Christoph C; Spencer, H Trent HT; Gaucher, Eric A EA; Doering, Christopher B CB; Lillicrap, David D
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Laboratory variability in the diagnosis of type 2 VWD variants.
Journal Of Thrombosis And Haemostasis : Jth
DiGiandomenico, Stefanie S; Christopherson, Pamela A PA; Haberichter, Sandra L SL; Abshire, Thomas C TC; Montgomery, Robert R RR; Flood, Veronica H VH; ,
Bleeding disorders in adolescents with heavy menstrual bleeding in a multicenter prospective US cohort.
Haematologica
Zia, Ayesha A; Jain, Shilpa S; Kouides, Peter P; Zhang, Song S; Gao, Ang A; Salas, Niavana N; Lau, May M; Wilson, Ellen E; DeSimone, Nicole N; Sarode, Ravi R
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: VWF: D1472H; rs1800383
Establishment of an International Reference Reagent for standardization of von Willebrand factor binding to recombinant glycoprotein Ib (VWF:GPIbM and VWF:GPIbR): Official Communication of the SSC.
Journal Of Thrombosis And Haemostasis : Jth
Hubbard, Anthony R AR; Haberichter, Sandra L SL; ,
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
An international collaborative study to compare different von Willebrand factor glycoprotein Ib binding activity assays: the COMPASS-VWF study.
Journal Of Thrombosis And Haemostasis : Jth
Szederjesi, A A; Baronciani, L L; Budde, U U; Castaman, G G; Lawrie, A S AS; Liu, Y Y; Montgomery, R R; Peyvandi, F F; Schneppenheim, R R; Várkonyi, A A; Patzke, J J; Bodó, I I
Clinical and laboratory phenotype variability in type 2M von Willebrand disease.
Journal Of Thrombosis And Haemostasis : Jth
Doruelo, A L AL; Haberichter, S L SL; Christopherson, P A PA; Boggio, L N LN; Gupta, S S; Lentz, S R SR; Shapiro, A D AD; Montgomery, R R RR; Flood, V H VH
Rapid discrimination of the phenotypic variants of von Willebrand disease.
Blood
Roberts, Jonathan C JC; Morateck, Patti A PA; Christopherson, Pamela A PA; Yan, Ke K; Hoffmann, Raymond G RG; Gill, Joan Cox JC; Montgomery, Robert R RR; ,
Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.
Blood
Flood, Veronica H VH; Christopherson, Pamela A PA; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Bellissimo, Daniel B DB; Udani, Rupa A RA; Dasgupta, Mahua M; Hoffmann, Raymond G RG; Ragni, Margaret V MV; Shapiro, Amy D AD; Lusher, Jeanne M JM; Lentz, Steven R SR; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Manco-Johnson, Marilyn J MJ; Gruppo, Ralph A RA; Boggio, Lisa N LN; Montgomery, Kate T KT; Goodeve, Anne C AC; James, Paula D PD; Lillicrap, David D; Peake, Ian R IR; Montgomery, Robert R RR
Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.
Blood
Chen, Junmei J; Hinckley, Jesse D JD; Haberichter, Sandra S; Jacobi, Paula P; Montgomery, Robert R; Flood, Veronica H VH; Wong, Randall R; Interlandi, Gianluca G; Chung, Dominic W DW; López, José A JA; Di Paola, Jorge J
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Blood
Johnsen, Jill M JM; Auer, Paul L PL; Morrison, Alanna C AC; Jiao, Shuo S; Wei, Peng P; Haessler, Jeffrey J; Fox, Keolu K; McGee, Sean R SR; Smith, Joshua D JD; Carlson, Christopher S CS; Smith, Nicholas N; Boerwinkle, Eric E; Kooperberg, Charles C; Nickerson, Deborah A DA; Rich, Stephen S SS; Green, David D; Peters, Ulrike U; Cushman, Mary M; Reiner, Alex P AP; ,
No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation.
Blood
Flood, Veronica H VH; Friedman, Kenneth D KD; Gill, Joan Cox JC; Haberichter, Sandra L SL; Christopherson, Pamela A PA; Branchford, Brian R BR; Hoffmann, Raymond G RG; Abshire, Thomas C TC; Dunn, Amy L AL; Di Paola, Jorge A JA; Hoots, W Keith WK; Brown, Deborah L DL; Leissinger, Cindy C; Lusher, Jeanne M JM; Ragni, Margaret V MV; Shapiro, Amy D AD; Montgomery, Robert R RR