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Select item 107720711.

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism

Patrick Yap, Lisa G. Riley, Purvi M. Kakadia, Stefan K. Bohlander, Ben Curran, Meer Jacob Rahimi, Salam Alburaiky, Ian Hayes, Henry Oppermann, Cristin Print, Sandra T. Cooper, Polona Le Quesne Stabej

Eur J Hum Genet. 2024 Jan; 32(1): 125–129. Published online 2023 Nov 6. doi: 10.1038/s41431-023-01484-9

PMCID:: PMC10772071

Abstract Article PDF–1.3M

Select item 105212542.

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D. Overton, Jing Xiao, Ariel Martinez, Max Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah Elsea, Valérie Cormier-Daire, Carlos R. Ferreira

Bone. Author manuscript; available in PMC 2023 Sep 26.

Published in final edited form as: Bone. 2020 Apr; 133: 115219. Published online 2020 Jan 7. doi: 10.1016/j.bone.2019.115219

PMCID:: PMC10521254

Abstract Article PDF–1.0M

Select item 101819323.

Precise modulation of transcription factor levels identifies features underlying dosage sensitivity

Sahin Naqvi, Seungsoo Kim, Hanne Hoskens, Harold S. Matthews, Richard A. Spritz, Ophir D. Klein, Benedikt Hallgrímsson, Tomek Swigut, Peter Claes, Jonathan K. Pritchard, Joanna Wysocka

Nat Genet. 2023; 55(5): 841–851. Published online 2023 Apr 6. doi: 10.1038/s41588-023-01366-2

PMCID:: PMC10181932

Abstract Article PDF–15M

Select item 97433604.

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Kateryna Venger, Miriam Elbracht, Julia Carlens, Peter Deutz, Felix Zeppernick, Lisa Lassay, Christian Kratz, Martin Zenker, Jung Kim, Douglas R. Stewart, Ilse Wieland, Kris Ann P. Schultz, Nicolaus Schwerk, Ingo Kurth, Udo Kontny

Fam Cancer. 2023; 22(4): 475–480. Published online 2021 Jul 31. doi: 10.1007/s10689-021-00271-z

PMCID:: PMC9743360

Abstract Article PDF–735K

Select item 96910165.

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10

Marta Owczarek-Lipska, Fenja Markus, Eva Bültmann, G. Christoph Korenke, John Neidhardt

Genes (Basel) 2022 Nov; 13(11): 2154. Published online 2022 Nov 18. doi: 10.3390/genes13112154

PMCID:: PMC9691016

Abstract Article PDF–1.9M

Select item 96837186.

Integration of 3D genome topology and local chromatin features uncovers enhancers underlying craniofacial-specific cartilage defects

Qiming Chen, Jiewen Dai, Qian Bian

Sci Adv. 2022 Nov; 8(47): eabo3648. Published online 2022 Nov 23. doi: 10.1126/sciadv.abo3648

PMCID:: PMC9683718

Abstract Article PDF–2.4M

Select item 94989077.

Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene

Jing-Jing Sun, Qin Cai, Miao Xu, Yan-Na Liu, Wan-Rui Li, Juan Li, Li Ma, Cheng Cai, Xiao-Hui Gong, Yi-Tao Zeng, Zhao-Rui Ren, Fanyi Zeng

Genes (Basel) 2022 Sep; 13(9): 1558. Published online 2022 Aug 29. doi: 10.3390/genes13091558

PMCID:: PMC9498907

Abstract Article PDF–1.8M

Select item 91516918.

Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome

Andres Ramirez-Martinez, Yichi Zhang, Marie-Jose van den Boogaard, John R. McAnally, Cristina Rodriguez-Caycedo, Andreas C. Chai, Francesco Chemello, Maarten P.G. Massink, Inge Cuppen, Martin G. Elferink, Robert J.J. van Es, Nard G. Janssen, Linda P.A.M. Walraven-van Oijen, Ning Liu, Rhonda Bassel-Duby, Richard H. van Jaarsveld, Eric N. Olson

J Clin Invest. 2022 Jun 1; 132(11): e159002. Published online 2022 Jun 1. doi: 10.1172/JCI159002

PMCID:: PMC9151691

Abstract Article PDF–3.1M

Select item 88959099.

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

M. Mouillé, M. Rio, S. Breton, M. L. Piketty, A. Afenjar, J. Amiel, Y. Capri, A. Goldenberg, C. Francannet, C. Michot, C. Mignot, L. Perrin, C. Quelin, J. Van Gils, G. Barcia, V. Pingault, G. Maruani, E. Koumakis, V. Cormier-Daire

Orphanet J Rare Dis. 2022; 17: 100. Published online 2022 Mar 3. doi: 10.1186/s13023-022-02229-5

PMCID:: PMC8895909

Abstract Article PDF–940K

Select item 837093410.

Clinical characterization of 266 patients and family members with cleft lip and/or palate with associated malformations and syndromes

Theodosia Bartzela, Björn Theuerkauf, Elisabeth Reichardt, Malte Spielmann, Charlotte Opitz

Clin Oral Investig. 2021; 25(9): 5531–5540. Published online 2021 Mar 24. doi: 10.1007/s00784-021-03863-2

PMCID:: PMC8370934

Abstract Article PDF–835K

Select item 835359511.

DIFFERENTIATING MOEBIUS SYNDROME AND OTHER CONGENITAL FACIAL WEAKNESS DISORDERS WITH ELECTRODIAGNOSTIC STUDIES

TANYA LEHKY, REVERSA JOSEPH, CAMILO TORO, TIANXIA WU, CAROL VAN RYZIN, ANDREA GROPMAN, FLAVIA M. FACIO, BRYN D. WEBB, ETHYLIN WANG JABS, BRENDA S. BARRY, ELIZABETH C. ENGLE, FRANCIS S. COLLINS, IRINI MANOLI, “Moebius Syndrome Research Consortium”

Muscle Nerve. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Muscle Nerve. 2021 Apr; 63(4): 516–524. Published online 2021 Jan 19. doi: 10.1002/mus.27159

PMCID:: PMC8353595

Abstract Article PDF–428K

Select item 822756812.

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts

Genes (Basel) 2021 Jun; 12(6): 879. Published online 2021 Jun 7. doi: 10.3390/genes12060879

PMCID:: PMC8227568

Abstract Article PDF–2.0M

Select item 820616213.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, Anupriya Kaur, Parneet Kaur, Rolph Pfundt, Hermine Veenstra-Knol, Grazia M.S. Mancini, Gerarda Cappuccio, Nicola Brunetti-Pierri, Fanny Kortüm, Maja Hempel, Jonas Denecke, Anna Lehman, CAUSES Study, Tjitske Kleefstra, Kyra E. Stuurman, Martina Wilke, Michelle L. Thompson, E. Martina Bebin, Emilia K. Bijlsma, Mariette J.V. Hoffer, Cacha Peeters-Scholte, Anne Slavotinek, William A. Weiss, Tiffany Yip, Ugur Hodoglugil, Amy Whittle, Janette diMonda, Juanita Neira, Sandra Yang, Amelia Kirby, Hailey Pinz, Rosan Lechner, Frank Sleutels, Ingo Helbig, Sarah McKeown, Katherine Helbig, Rebecca Willaert, Jane Juusola, Jennifer Semotok, Medard Hadonou, John Short, Genomics England Research Consortium, Naomi Yachelevich, Sajel Lala, Alberto Fernández-Jaen, Janvier Porta Pelayo, Chiara Klöckner, Susanne B. Kamphausen, Rami Abou Jamra, Maria Arelin, A. Micheil Innes, Anni Niskakoski, Sam Amin, Maggie Williams, Julie Evans, Sarah Smithson, Damian Smedley, Anna de Burca, Usha Kini, Martin B. Delatycki, Lyndon Gallacher, Alison Yeung, Lynn Pais, Michael Field, Ellenore Martin, Perrine Charles, Thomas Courtin, Boris Keren, Maria Iascone, Anna Cereda, Gemma Poke, Véronique Abadie, Christel Chalouhi, Padmini Parthasarathy, Benjamin J. Halliday, Stephen P. Robertson, Stanislas Lyonnet, Jeanne Amiel, Christopher T. Gordon

Am J Hum Genet. 2021 Jun 3; 108(6): 1138–1150. Published online 2021 Apr 27. doi: 10.1016/j.ajhg.2021.04.007

PMCID:: PMC8206162

Abstract Article PDF–3.0M

Select item 798913914.

Med23 Regulates Sox9 Expression during Craniofacial Development

S. Dash, S. Bhatt, K.T. Falcon, L.L. Sandell, P.A. Trainor

J Dent Res. 2021 Apr; 100(4): 406–414. Published online 2020 Nov 6. doi: 10.1177/0022034520969109

PMCID:: PMC7989139

Abstract Article PDF–4.0M

Select item 773739915.

Further Delineation of the Clinical Spectrum of KAT6B Disorders and Allelic Series of Pathogenic Variants

Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloes, Amelle G. Shillington, Kosuke Izumi, Alyssa L. Ritter, Beth Keena, Elaine Zackai, Dong Li, Elizabeth Bhoj, Jennifer M. Tarpinian, Emma Bedoukian, Mary K. Kukolich, A. Micheil Innes, Grace U. Ediae, Sarah L. Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R. Subbaraman, Frank J. Probst, Jennifer A. Bassetti, Reid V. Sutton, Richard A. Gibbs, Chester Brown, Philip M. Boone, Ingrid A. Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance F. Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan Patel, Ana Bracho, Francisco Cammarata-Scalisi, Alper Gezdirici, Alberto Fernandez-Jaen, Natalie Hauser, Yuri A. Zarate, Katherine A. Bosanko, Klaus Dieterich, John C. Carey, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Brendan H. Lee, Xiang-Jiao Yang, James R. Lupski, Philippe M. Campeau

Genet Med. Author manuscript; available in PMC 2020 Dec 15.

Published in final edited form as: Genet Med. 2020 Aug; 22(8): 1338–1347. Published online 2020 May 19. doi: 10.1038/s41436-020-0811-8

PMCID:: PMC7737399

Abstract Article PDF–1.2M

Select item 765552616.

Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder

Hannah K. Long, Marco Osterwalder, Ian C. Welsh, Karissa Hansen, James O.J. Davies, Yiran E. Liu, Mervenaz Koska, Alexander T. Adams, Robert Aho, Neha Arora, Kazuya Ikeda, Ruth M. Williams, Tatjana Sauka-Spengler, Matthew H. Porteus, Tim Mohun, Diane E. Dickel, Tomek Swigut, Jim R. Hughes, Douglas R. Higgs, Axel Visel, Licia Selleri, Joanna Wysocka

Cell Stem Cell. 2020 Nov 5; 27(5): 765–783.e14. doi: 10.1016/j.stem.2020.09.001