| Title | Authors (identified) | Published In | Identifier(s) | Topic | Published Date | Match? |
|---|
| Cystinuria: clinical practice recommendation | [1]Aude Servais, [2]Kay Thomas, [3]Luca Dello Strologo, [4]John A Sayer, [5]Soumeya Bekri, [6]Aurelia Bertholet-Thomas, [7]Matthew Bultitude, [8]Giovanna Capolongo, [9]Rimante Cerkauskiene, [10]Michel Daudon, ..., [12]Valentine Gillion, [13]Silvia Gràcia-Garcia, [14]Jan Halbritter, [15]Laurence Heidet, [16]Marleen van den Heijkant, ... [Full author list] | Kidney International [missing] | DOI: 10.1016/J.KINT.2020.06.035 [ORCID]
PubMed: 32918941 [ORCID]
| | 2020-09-09 | |
| Novel Nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment | [1]Ria Schönauer, [2]Wenjun Jin, [3]Anastasia Ertel, [4]Melanie Nemitz-Kliemchen, [5]Nydia Panitz, [6]Elena Hantmann, [7]Anna Seidel, [8]Daniela A Braun, [9]Shirlee Shril, [10]Matthias Hansen, [11]Khurrum Shahzad, [12]Richard Sandford, [13]Sophie Saunier, [14]Alexandre Benmerah, [15]Carsten Bergmann, [16]Friedhelm Hildebrandt, [17]Jan Halbritter [Full author list] | Kidney International [missing] | DOI: 10.1016/J.KINT.2020.05.027 [ORCID]
PubMed: 32505465 [ORCID]
| | 2020-06-04 | Jan Halbritter (Q94548780; 19 items)
|
| Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation | [1]Friederike Petzold, [2]Anette Bachmann, [3]Carsten Bergmann, [4]Udo Helmchen, [5]Jan Halbritter [Full author list] | BMC Nephrology [missing] | DOI: 10.1186/S12882-019-1523-7 [ORCID]
PubMed: 31477057 [ORCID]
| Alport syndrome [missing] | 2019-09-02 | Jan Halbritter (Q94548780; 19 items)
|
| Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome | [1]Ria Schönauer, [2]Anna Seidel, [3]Maik Grohmann, [4]Tom H Lindner, [5]Carsten Bergmann, [6]Jan Halbritter [Full author list] | Frontiers in Genetics [missing] | DOI: 10.3389/FGENE.2019.00465 [ORCID]
PubMed: 31156713 [ORCID]
| atypical hemolytic uremic syndrome [missing] | 2019-05-15 | Jan Halbritter (Q94548780; 19 items)
|
| Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease | [1]Isabel Ottlewski, [2]Johannes Münch, [3]Timo Wagner, [4]Ria Schönauer, [5]Anette Bachmann, [6]Antje Weimann, [7]Julia Hentschel, [8]Tom H Lindner, [9]Daniel Seehofer, [10]Carsten Bergmann, [11]Rami Abou Jamra, [12]Jan Halbritter [Full author list] | Kidney International [missing] | DOI: 10.1016/J.KINT.2019.01.038 [ORCID]
PubMed: 31027891 [ORCID]
| kidney disease [missing] | 2019-03-15 | Jan Halbritter (Q94548780; 19 items)
|
| Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting | [1]Ria Schönauer, [2]Friederike Petzold, [3]Wilhelmina Lucinescu, [4]Anna Seidel, [5]Luise Müller, [6]Steffen Neuber, [7]Carsten Bergmann, [8]John A Sayer, [9]Andreas Werner, [10]Jan Halbritter [Full author list] | Urolithiasis [missing] | DOI: 10.1007/S00240-019-01116-2 [ORCID]
PubMed: 30798342 [ORCID]
| | 2019-02-23 | Jan Halbritter (Q94548780; 19 items)
|
| Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis | [1]Ali Amar, [2]Amar J Majmundar, [3]Ihsan Ullah, [4]Ayesha Afzal, [5]Daniela A Braun, [6]Shirlee Shril, [7]Ankana Daga, [8]Tilman Jobst-Schwan, [9]Mumtaz Ahmad, [10]John A Sayer, [11]Heon Yung Gee, [12]Jan Halbritter, [13]Thomas Knöpfel, [14]Nati Hernando, [15]Andreas Werner, [16]Carsten Wagner, [17]Shagufta Khaliq, [18]Amelie van der Ven [Full author list] | Human Genetics [missing] | DOI: 10.1007/S00439-019-01978-X [ORCID]
PubMed: 30778725 [ORCID]
| | 2019-02-18 | Jan Halbritter (Q94548780; 19 items)
|
| Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy | [1]Yo Jun Choi, [2]Jan Halbritter, [3]Daniela A Braun, [4]Markus Schueler, [5]David Schapiro, [6]John Hoon Rim, [7]Sumeda Nandadasa, [8]Won-Il Choi, [9]Eugen Widmeier, [10]Shirlee Shril, [11]Friederike Körber, [12]Sidharth K Sethi, [13]Richard P Lifton, [14]Bodo B Beck, [15]Suneel S Apte, [16]Heon Yung Gee, [17]Friedhelm Hildebrandt [Full author list] | American Journal of Human Genetics [missing] | DOI: 10.1016/J.AJHG.2018.11.003 [ORCID]
PubMed: 30609407 [ORCID]
| | 2019-01-01 | Jan Halbritter (Q94548780; 19 items)
|
| The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development | [1]Sylvia Hoff, [2]Daniel Epting, [3]Nathalie Falk, [4]Sophie Schroda, [5]Daniela A Braun, [6]Jan Halbritter, [7]Friedhelm Hildebrandt, [8]Albrecht Kramer-Zucker, [9]Carsten Bergmann, [10]Gerd Walz, [11]Soeren S Lienkamp [Full author list] | Journal of Biological Chemistry [missing] | DOI: 10.1074/JBC.RA117.000847 [ORCID]
PubMed: 30111592 [ORCID]
| molecular biology [missing] | 2018-09-28 | Jan Halbritter (Q94548780; 19 items)
|
| Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition | [1]Karl X Knaup, [2]Thomas Hackenbeck, [3]Bernt Popp, [4]Johanna Stoeckert, [5]Andrea Wenzel, [6]Maike Büttner-Herold, [7]Frederick Pfister, [8]Markus Schueler, [9]Didem Seven, [10]Annette M May, [11]Jan Halbritter, [12]Hermann-Josef Gröne, [13]André Reis, [14]Bodo B Beck, [15]Kerstin Amann, [16]Arif B. Ekici, [17]Michael S Wiesener [Full author list] | Journal of the American Society of Nephrology [missing] | DOI: 10.1681/ASN.2018030245 [ORCID]
PubMed: 30049680 [ORCID]
| nephrology [missing] | 2018-09-01 | Jan Halbritter (Q94548780; 19 items)
|
| Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations | [1]Amy Fearn, [2]Benjamin Allison, [3]Sarah J Rice, [4]Noel Edwards, [5]Jan Halbritter, [6]Soline Bourgeois, [7]Eva M Pastor-Arroyo, [8]Friedhelm Hildebrandt, [9]Velibor Tasic, [10]Carsten A Wagner, [11]Nati Hernando, [12]John A. Sayer, [13]Andreas Werner [Full author list] | Physiological Reports [missing] | DOI: 10.14814/PHY2.13715 [ORCID]
PubMed: 29924459 [ORCID]
| pathophysiology [missing] | 2018-06-01 | Jan Halbritter (Q94548780; 19 items)
|
| Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis | [1]Ankana Daga, [2]Amar J Majmundar, [3]Daniela A Braun, [4]Heon Yung Gee, [5]Jennifer A Lawson, [6]Shirlee Shril, [7]Tilman Jobst-Schwan, [8]Asaf Vivante, [9]David Schapiro, [10]Weizhen Tan, ..., [16]Neveen A Soliman, [17]Seema Hashmi, [18]Jan Halbritter, [19]Margarita Halty, [20]Jameela A Kari, ... [Full author list] | Kidney International [missing] | DOI: 10.1016/J.KINT.2017.06.025 [ORCID]
PubMed: 28893421 [ORCID]
| | 2017-09-08 | Jan Halbritter (Q94548780; 19 items)
|
| Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis | [1]Maxence S. Macia, [2]Jan Halbritter, [3]Marion Delous, [4]Cecilie Bredrup, [5]Arthur Gutter, [6]Emilie Filhol, [7]Anne E. C. Mellgren, [8]Sabine Leh, [9]Albane A Bizet, [10]Daniela A Braun, ..., [16-Q45929076]Patrick Nitschké, ... [Full author list] | American Journal of Human Genetics [missing] | DOI: 10.1016/J.AJHG.2016.12.011 [ORCID]
PubMed: 28089251 [ORCID]
| Mitogen-activated protein kinase binding protein 1 [missing] | 2017-02-02 | Jan Halbritter (Q94548780; 19 items)
|
| Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. | [1]Maxence S Macia, [2]Jan Halbritter, [3]Marion Delous, [4]Cecilie Bredrup, [5]Arthur Gutter, [6]Emilie Filhol, [7]Anne E C Mellgren, [8]Sabine Leh, [9]Albane A Bizet, [10]Daniela A Braun, ... [Full author list] | American Journal of Human Genetics [missing] | DOI: 10.1016/J.AJHG.2017.01.025 [ORCID]
PubMed: 28157543 [ORCID]
| | 2017-02-01 | Jan Halbritter (Q94548780; 19 items)
|
| Mutations in SLC26A1 Cause Nephrolithiasis | [1]Heon Yung Gee, [2]Ikhyun Jun, [3]Daniela A Braun, [4]Jennifer A Lawson, [5]Jan Halbritter, [6]Shirlee Shril, [7]Caleb P Nelson, [8]Weizhen Tan, [9]Deborah Stein, [10]Ari J. Wassner, [11]Michael A Ferguson, [12]Zoran Gucev, [13]John A. Sayer, [14]Danko Milosevic, [15]Michelle Baum, [16]Velibor Tasic, [17]Min Goo Lee, [18]Friedhelm Hildebrandt [Full author list] | American Journal of Human Genetics [missing] | DOI: 10.1016/J.AJHG.2016.03.026 [ORCID]
PubMed: 27210743 [ORCID]
| | 2016-05-18 | Jan Halbritter (Q94548780; 19 items)
|
| Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis | [1]Daniela A Braun, [2]Jennifer Ashley Lawson, [3]Heon Yung Gee, [4]Jan Halbritter, [5]Shirlee Shril, [6]Weizhen Tan, [7]Deborah Stein, [8]Ari J. Wassner, [9]Michael A Ferguson, [10]Zoran Gucev, [11]Brittany Fisher, [12]Leslie Spaneas, [13]Jennifer D Varner, [14]John A. Sayer, [15]Danko Milosevic, [16]Michelle Baum, [17]Velibor Tasic, [18]Friedhelm Hildebrandt [Full author list] | Clinical Journal of the American Society of Nephrology [missing] | DOI: 10.2215/CJN.07540715 [ORCID]
PubMed: 26787776 [ORCID]
| | 2016-01-19 | Jan Halbritter (Q94548780; 19 items)
|
| Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization | [1]Albane A Bizet, [2]Anita Becker-Heck, [3]Rebecca Ryan, [4]Kristina Weber, [5]Emilie Filhol, [6]Pauline Krug, [7]Jan Halbritter, [8]Marion Delous, [9]Marie-Christine Lasbennes, [10]Bolan Linghu, ... [Full author list] | Nature Communications [missing] | DOI: 10.1038/NCOMMS9666 [ORCID]
PubMed: 26487268 [ORCID]
| microtubule [missing]; TRAF3 interacting protein 1 [missing]; TRAF3 interacting protein 1 [missing]; Microtubule-associated protein 4 [missing]; TNF receptor-associated factor 3 interacting protein 1 [missing] | 2015-10-21 | Jan Halbritter (Q94548780; 19 items)
|
| Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association | [1]Alina C Hilger, [2]Jan Halbritter, [3]Tracie Pennimpede, [4]Amelie van der Ven, [5]Georgia Sarma, [6]Daniela A Braun, [7]Jonathan D Porath, [8]Stefan Kohl, [9]Daw-Yang Hwang, [10]Gabriel C Dworschak, [11]Bernhard G Hermann, [12]Anna Pavlova, [13]Osman El-Maarri, [14]Markus M Nöthen, [15]Michael Ludwig, [16]Heiko Reutter, [17]Friedhelm Hildebrandt [Full author list] | Human Mutation [missing] | DOI: 10.1002/HUMU.22859 [ORCID]
PubMed: 26294094 [ORCID]
| | 2015-08-21 | Jan Halbritter (Q94548780; 19 items)
|
| TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone | [1]Elle C Roberson, [2]William E Dowdle, [3]Aysegul Ozanturk, [4]Francesc R Garcia-Gonzalo, [5]Chunmei Li, [6]Jan Halbritter, [7]Nadia Elkhartoufi, [8]Jonathan D Porath, [9]Heidi Cope, [10]Allison Ashley-Koch, ... [Full author list] | Journal of Cell Biology [missing] | DOI: 10.1083/JCB.201411087 [ORCID]
PubMed: 25869670 [ORCID]
| MKS complex [missing]; TMEM (human TransMEMbrane protein) homolog CELE_T26A8.2 [missing] | 2015-04-01 | Jan Halbritter (Q94548780; 19 items)
|
| A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome | [1]Carolin E Sadowski, [2]Svjetlana Lovric, [3]Shazia Ashraf, [4]Werner L Pabst, [5]Heon Yung Gee, [6]Stefan Kohl, [7]Susanne Engelmann, [8]Virginia Vega-Warner, [9]Humphrey Fang, [10]Jan Halbritter, [11]Michael J Somers, [12]Weizhen Tan, ... [Full author list] | Journal of the American Society of Nephrology [missing] | DOI: 10.1681/ASN.2014050489 [ORCID]
PubMed: 25349199 [ORCID]
| | 2014-10-27 | Jan Halbritter (Q94548780; 19 items)
|
| Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis | [1]Jan Halbritter, [2]Michelle Baum, [3]Ann Marie Hynes, [4]Sarah J Rice, [5]David T Thwaites, [6]Zoran S Gucev, [7]Brittany Fisher, [8]Leslie Spaneas, [9]Jonathan D Porath, [10]Daniela A Braun, [11]Ari J. Wassner, [12]Caleb P Nelson, [13]Velibor Tasic, [14]John A Sayer, [15]Friedhelm Hildebrandt [Full author list] | Journal of the American Society of Nephrology [missing] | DOI: 10.1681/ASN.2014040388 [ORCID]
PubMed: 25296721 [ORCID]
| | 2014-10-08 | Jan Halbritter (Q94548780; 19 items)
|
| Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome | [1]Svjetlana Lovric, [2]Humphrey Fang, [3]Virginia Vega-Warner, [4]Carolin E Sadowski, [5]Heon Yung Gee, [6]Jan Halbritter, [7]Shazia Ashraf, [8]Pawaree Saisawat, [9]Neveen A. Soliman, [10]Jameela A Kari, [11]Edgar A. Otto, [12]Friedhelm Hildebrandt, [13]Nephrotic Syndrome Study Group [Full author list] | Clinical Journal of the American Society of Nephrology [missing] | DOI: 10.2215/CJN.09010813 [ORCID]
PubMed: 24742477 [ORCID]
| | 2014-04-17 | Jan Halbritter (Q94548780; 19 items)
|
| Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype | [1]Michael R Knowles, [2]Lawrence E Ostrowski, [3]Margaret W Leigh, [4]Patrick R Sears, [5]Stephanie D Davis, [6]Whitney E Wolf, [7]Milan J Hazucha, [8]Johnny L Carson, [9]Kenneth N Olivier, [10]Scott D Sagel, ..., [26]Heon Yung Gee, [27]Edgar A. Otto, [28]Jan Halbritter, [29]Stefan Kohl, [30]Martin Kircher, ... [Full author list] | American Journal of Respiratory and Critical Care Medicine [missing] | DOI: 10.1164/RCCM.201311-2047OC [ORCID]
PubMed: 24568568 [ORCID]
| phenotype [missing]; dyskinesia [missing]; primary ciliary dyskinesia [missing] | 2014-03-01 | Jan Halbritter (Q94548780; 19 items)
|
| Mutations in CSPP1 lead to classical Joubert syndrome | [1]Naiara Akizu, [2]Jennifer L Silhavy, [3]Rasim Ozgur Rosti, [4]Eric Scott, [5]Ali G Fenstermaker, [6]Jana Schroth, [7]Maha Zaki, [8]Henry Sanchez, [9]Neerja Gupta, [10]Madhulika Kabra, ..., [18]Mostafa Abdellateef, [19]Stacey Gabriel, [20]Jan Halbritter, [21]Friedhelm Hildebrandt, [22]Hans van Bokhoven, ... [Full author list] | American Journal of Human Genetics [missing] | DOI: 10.1016/J.AJHG.2013.11.015 [ORCID]
PubMed: 24360807 [ORCID]
| lead [missing] | 2013-12-19 | Jan Halbritter (Q94548780; 19 items)
|
| ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 | [1]Sylvia Hoff, [2]Jan Halbritter, [3]Daniel Epting, [4]Valeska Frank, [5]Thanh-Minh T Nguyen, [6]Jeroen van Reeuwijk, [7]Christopher Boehlke, [8]Christoph Schell, [9]Takayuki Yasunaga, [10]Martin Helmstädter, ... [Full author list] | Nature Genetics [missing] | DOI: 10.1038/NG.2681 [ORCID]
PubMed: 23793029 [ORCID]
| Ankyrin repeat and sterile alpha motif domain containing 6 [missing]; NIMA-related kinase 8 [missing]; Nephronophthisis 3 [missing] | 2013-06-23 | Jan Halbritter (Q94548780; 19 items)
|
| Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy | [1]Jan Halbritter, [2]Jonathan D Porath, [3]Katrina A Diaz, [4]Daniela A Braun, [5]Stefan Kohl, [6]Moumita Chaki, [7]Susan J Allen, [8]Neveen A. Soliman, [9]Friedhelm Hildebrandt, [10]Edgar A. Otto, [11]GPN Study Group [Full author list] | Human Genetics [missing] | DOI: 10.1007/S00439-013-1297-0 [ORCID]
PubMed: 23559409 [ORCID]
| | 2013-04-05 | Jan Halbritter (Q94548780; 19 items)
|
| High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing | [1]Jan Halbritter, [2]Katrina A Diaz, [3]Moumita Chaki, [4]Jonathan D Porath, [5]Brendan Tarrier, [6]Clementine Fu, [7]Jamie L Innis, [8]Susan J Allen, [9]Robert H Lyons, [10]Constantinos J Stefanidis, [11]Heymut Omran, [12]Neveen A. Soliman, [13]Edgar A. Otto [Full author list] | Journal of Medical Genetics [missing] | DOI: 10.1136/JMEDGENET-2012-100973 [ORCID]
PubMed: 23188109 [ORCID]
| patient [missing]; ciliopathy [missing] | 2012-11-27 | Jan Halbritter (Q94548780; 19 items)
|