Literature DB >> 35260823

Good genotype-phenotype relationships in rare disease are hard to find.

Alisdair McNeill1,2.   

Abstract

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Year:  2022        PMID: 35260823      PMCID: PMC8904513          DOI: 10.1038/s41431-022-01062-5

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


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  8 in total

1.  Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome.

Authors:  Michael S Hildebrand; Samuel F Berkovic; Timothy E Green; Mareike Schimmel; Susanna Schubert; Johannes R Lemke; Mark F Bennett
Journal:  Eur J Hum Genet       Date:  2022-01-16       Impact factor: 4.246

2.  The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community.

Authors:  Florence Riccardi; Ruta Marcinkute; Celia Azevedo Soares; Patricia Stefana Calapod; Juliana Miranda Cerqueira; Elena Avram; Can Ding
Journal:  Eur J Hum Genet       Date:  2022-01-14       Impact factor: 4.246

3.  Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

Authors:  Alexander J M Dingemans; Kim M G Truijen; Jung-Hyun Kim; Zahide Alaçam; Laurence Faivre; Kathleen M Collins; Erica H Gerkes; Mieke van Haelst; Ingrid M B H van de Laar; Kristin Lindstrom; Mathilde Nizon; James Pauling; Edyta Heropolitańska-Pliszka; Astrid S Plomp; Caroline Racine; Rani Sachdev; Margje Sinnema; Jon Skranes; Hermine E Veenstra-Knol; Eline A Verberne; Anneke T Vulto-van Silfhout; Marlon E F Wilsterman; Eun-Young Erin Ahn; Bert B A de Vries; Lisenka E L M Vissers
Journal:  Eur J Hum Genet       Date:  2021-09-15       Impact factor: 5.351

4.  Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

Authors:  Inga Harting; Steffen Syrbe; Julian Schröter; Bernt Popp; Heiko Brennenstuhl; Jan H Döring; Stephany H Donze; Emilia K Bijlsma; Arie van Haeringen; Dagmar Huhle; Leonie Jestaedt; Andreas Merkenschlager; Maria Arelin; Daniel Gräfe; Sonja Neuser; Stephanie Oates; Deb K Pal; Michael J Parker; Johannes R Lemke; Georg F Hoffmann; Stefan Kölker
Journal:  Eur J Hum Genet       Date:  2022-01-11       Impact factor: 4.246

5.  Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.

Authors:  Claire Forde; Emma Burkitt-Wright; Peter D Turnpenny; Eric Haan; John Ealing; Sahar Mansour; Muriel Holder; Nayana Lahiri; Abhijit Dixit; Annie Procter; Laurence Pacot; Dominique Vidaud; Yline Capri; Marion Gerard; Hélène Dollfus; Elise Schaefer; Chloé Quelin; Sabine Sigaudy; Tiffany Busa; Gabriella Vera; Lena Damaj; Ludwine Messiaen; David A Stevenson; Peter Davies; Sheila Palmer-Smith; Alison Callaway; Pierre Wolkenstein; Eric Pasmant; Meena Upadhyaya
Journal:  Eur J Hum Genet       Date:  2021-12-13       Impact factor: 4.246

Review 6.  Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

Authors:  Anthony McGuigan; James Whitworth; Avgi Andreou; Timothy Hearn; Marc Tischkowitz; Eamonn R Maher
Journal:  Eur J Hum Genet       Date:  2022-01-04       Impact factor: 4.246

7.  A tool for translating polygenic scores onto the absolute scale using summary statistics.

Authors:  Oliver Pain; Alexandra C Gillett; Jehannine C Austin; Lasse Folkersen; Cathryn M Lewis
Journal:  Eur J Hum Genet       Date:  2022-01-04       Impact factor: 4.246

8.  Polygenic risk modeling for prediction of epithelial ovarian cancer risk.

Authors:  Eileen O Dareng; Jonathan P Tyrer; Daniel R Barnes; Michelle R Jones; Xin Yang; Katja K H Aben; Muriel A Adank; Simona Agata; Irene L Andrulis; Hoda Anton-Culver; Natalia N Antonenkova; Gerasimos Aravantinos; Banu K Arun; Annelie Augustinsson; Judith Balmaña; Elisa V Bandera; Rosa B Barkardottir; Daniel Barrowdale; Matthias W Beckmann; Alicia Beeghly-Fadiel; Javier Benitez; Marina Bermisheva; Marcus Q Bernardini; Line Bjorge; Amanda Black; Natalia V Bogdanova; Bernardo Bonanni; Ake Borg; James D Brenton; Agnieszka Budzilowska; Ralf Butzow; Saundra S Buys; Hui Cai; Maria A Caligo; Ian Campbell; Rikki Cannioto; Hayley Cassingham; Jenny Chang-Claude; Stephen J Chanock; Kexin Chen; Yoke-Eng Chiew; Wendy K Chung; Kathleen B M Claes; Sarah Colonna; Linda S Cook; Fergus J Couch; Mary B Daly; Fanny Dao; Eleanor Davies; Miguel de la Hoya; Robin de Putter; Joe Dennis; Allison DePersia; Peter Devilee; Orland Diez; Yuan Chun Ding; Jennifer A Doherty; Susan M Domchek; Thilo Dörk; Andreas du Bois; Matthias Dürst; Diana M Eccles; Heather A Eliassen; Christoph Engel; Gareth D Evans; Peter A Fasching; James M Flanagan; Renée T Fortner; Eva Machackova; Eitan Friedman; Patricia A Ganz; Judy Garber; Francesca Gensini; Graham G Giles; Gord Glendon; Andrew K Godwin; Marc T Goodman; Mark H Greene; Jacek Gronwald; Eric Hahnen; Christopher A Haiman; Niclas Håkansson; Ute Hamann; Thomas V O Hansen; Holly R Harris; Mikael Hartman; Florian Heitz; Michelle A T Hildebrandt; Estrid Høgdall; Claus K Høgdall; John L Hopper; Ruea-Yea Huang; Chad Huff; Peter J Hulick; David G Huntsman; Evgeny N Imyanitov; Claudine Isaacs; Anna Jakubowska; Paul A James; Ramunas Janavicius; Allan Jensen; Oskar Th Johannsson; Esther M John; Michael E Jones; Daehee Kang; Beth Y Karlan; Anthony Karnezis; Linda E Kelemen; Elza Khusnutdinova; Lambertus A Kiemeney; Byoung-Gie Kim; Susanne K Kjaer; Ian Komenaka; Jolanta Kupryjanczyk; Allison W Kurian; Ava Kwong; Diether Lambrechts; Melissa C Larson; Conxi Lazaro; Nhu D Le; Goska Leslie; Jenny Lester; Fabienne Lesueur; Douglas A Levine; Lian Li; Jingmei Li; Jennifer T Loud; Karen H Lu; Jan Lubiński; Phuong L Mai; Siranoush Manoukian; Jeffrey R Marks; Rayna Kim Matsuno; Keitaro Matsuo; Taymaa May; Lesley McGuffog; John R McLaughlin; Iain A McNeish; Noura Mebirouk; Usha Menon; Austin Miller; Roger L Milne; Albina Minlikeeva; Francesmary Modugno; Marco Montagna; Kirsten B Moysich; Elizabeth Munro; Katherine L Nathanson; Susan L Neuhausen; Heli Nevanlinna; Joanne Ngeow Yuen Yie; Henriette Roed Nielsen; Finn C Nielsen; Liene Nikitina-Zake; Kunle Odunsi; Kenneth Offit; Edith Olah; Siel Olbrecht; Olufunmilayo I Olopade; Sara H Olson; Håkan Olsson; Ana Osorio; Laura Papi; Sue K Park; Michael T Parsons; Harsha Pathak; Inge Sokilde Pedersen; Ana Peixoto; Tanja Pejovic; Pedro Perez-Segura; Jennifer B Permuth; Beth Peshkin; Paolo Peterlongo; Anna Piskorz; Darya Prokofyeva; Paolo Radice; Johanna Rantala; Marjorie J Riggan; Harvey A Risch; Cristina Rodriguez-Antona; Eric Ross; Mary Anne Rossing; Ingo Runnebaum; Dale P Sandler; Marta Santamariña; Penny Soucy; Rita K Schmutzler; V Wendy Setiawan; Kang Shan; Weiva Sieh; Jacques Simard; Christian F Singer; Anna P Sokolenko; Honglin Song; Melissa C Southey; Helen Steed; Dominique Stoppa-Lyonnet; Rebecca Sutphen; Anthony J Swerdlow; Yen Yen Tan; Manuel R Teixeira; Soo Hwang Teo; Kathryn L Terry; Mary Beth Terry; Mads Thomassen; Pamela J Thompson; Liv Cecilie Vestrheim Thomsen; Darcy L Thull; Marc Tischkowitz; Linda Titus; Amanda E Toland; Diana Torres; Britton Trabert; Ruth Travis; Nadine Tung; Shelley S Tworoger; Ellen Valen; Anne M van Altena; Annemieke H van der Hout; Els Van Nieuwenhuysen; Elizabeth J van Rensburg; Ana Vega; Digna Velez Edwards; Robert A Vierkant; Frances Wang; Barbara Wappenschmidt; Penelope M Webb; Clarice R Weinberg; Jeffrey N Weitzel; Nicolas Wentzensen; Emily White; Alice S Whittemore; Stacey J Winham; Alicja Wolk; Yin-Ling Woo; Anna H Wu; Li Yan; Drakoulis Yannoukakos; Katia M Zavaglia; Wei Zheng; Argyrios Ziogas; Kristin K Zorn; Zdenek Kleibl; Douglas Easton; Kate Lawrenson; Anna DeFazio; Thomas A Sellers; Susan J Ramus; Celeste L Pearce; Alvaro N Monteiro; Julie Cunningham; Ellen L Goode; Joellen M Schildkraut; Andrew Berchuck; Georgia Chenevix-Trench; Simon A Gayther; Antonis C Antoniou; Paul D P Pharoah
Journal:  Eur J Hum Genet       Date:  2022-01-14       Impact factor: 5.351

  8 in total

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