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Duran, I. et al. Mutations in IFT-A satellite core component genes and produce short rib polydactyly syndrome with distinctive campomelia. Cilia 6, 7 (2017).

Bosakova, M. et al. Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. EMBO Mol Med 12, e11739 (2020).

Nguyen, T. Tuyet Mai et al. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet 101, 856-865 (2017).

Nguyen, T. Tuyet Mai et al. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet 101, 856-865 (2017).

Nguyen, T. Tuyet Mai et al. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet 101, 856-865 (2017).

Cox, T. C. et al. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Hum Mutat 40, 1813-1825 (2019).

Cox, T. C. et al. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Hum Mutat 40, 1813-1825 (2019).

Cox, T. C. et al. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Hum Mutat 40, 1813-1825 (2019).

Cox, T. C. et al. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Hum Mutat 40, 1813-1825 (2019).

Lee, C. Syng et al. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet 101, 815-823 (2017).

Lee, C. Syng et al. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet 101, 815-823 (2017).

Lee, C. Syng et al. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet 101, 815-823 (2017).

Isrie, M. et al. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet 97, 790-800 (2015).

Isrie, M. et al. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet 97, 790-800 (2015).

Harms, F. Leonie et al. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet 100, 117-127 (2017).

Harms, F. Leonie et al. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet 100, 117-127 (2017).

Harms, F. Leonie et al. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet 100, 117-127 (2017).

Harms, F. Leonie et al. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet 100, 117-127 (2017).

Harms, F. Leonie et al. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet 100, 117-127 (2017).

S Taylor, P. et al. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun 6, 7092 (2015).

Badiner, N. et al. Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. Clin Genet 92, 158-165 (2017).

Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).

Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).

Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).

Sanna-Cherchi, S. et al. Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med 369, 621-9 (2013).

Akizu, N. et al. Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet 94, 80-6 (2014).

Boyden, L. M. et al. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. Am J Hum Genet 107, 158-163 (2020).

Van De Weghe, J. C. et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet 101, 23-36 (2017).

Link, N. et al. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Dev Cell 51, 713-729.e6 (2019).

Link, N. et al. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Dev Cell 51, 713-729.e6 (2019).

Shenje, L. T. et al. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun 5, 3416 (2014).

Shenje, L. T. et al. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun 5, 3416 (2014).

Shenje, L. T. et al. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun 5, 3416 (2014).

Shenje, L. T. et al. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun 5, 3416 (2014).

Shenje, L. T. et al. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun 5, 3416 (2014).

Shenje, L. T. et al. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun 5, 3416 (2014).

Shenje, L. T. et al. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun 5, 3416 (2014).

Jin, S. Chih et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 52, 1046-1056 (2020).

Jin, S. Chih et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 52, 1046-1056 (2020).

Jin, S. Chih et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 52, 1046-1056 (2020).

Jin, S. Chih et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 52, 1046-1056 (2020).

Jin, S. Chih et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 52, 1046-1056 (2020).

Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).

Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).

Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).

Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).

Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).

Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).

Romberg, N. et al. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet 46, 1135-1139 (2014).

Bustamante-Marin, X. M. et al. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. PLoS Genet 16, e1008691 (2020).

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